Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

INF2 Gene

protein-coding GIFtS: 52
GCID: GC14P105155

inverted formin, FH2 and WH2 domain containing

(Previous names: chromosome 14 open reading frame 151, chromosome 14 open...)
(Previous symbols: C14orf151, C14orf173)

Explore 6 diseases affiliated with
INF2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Inverted Formin, FH2 And WH2 Domain Containing¹ ²		Chromosome 14 Open Reading Frame 151¹
C14orf173¹ ² ³ ⁵		Chromosome 14 Open Reading Frame 173¹
C14orf151¹ ² ³		CMTDIE²
HBEBP2-Binding Protein C² ³		HBEAG-Binding Protein 2 Binding Protein C²
FSGS5² ⁵		Inverted Formin-2²
MGC13251¹		Pp9484¹

External Ids:	HGNC: 23791¹	Entrez Gene: 64423²	Ensembl: ENSG00000203485⁷	OMIM: 610982⁵	UniProtKB: Q27J81³

Export aliases for INF2 gene to outside databases

Previous GC identifers: GC14P104245 GC14P085353

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for INF2:

This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the

presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar

mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of

actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.(provided by

RefSeq, Aug 2010)

UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81

Function: Severs actin filaments and accelerates their polymerization and depolymerization (By similarity)

Gene Wiki entry for INF2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the INF2 gene promoter:
NCX/Ncx RelA NF-kappaB Evi-1 HEN1 NRF-2 HFH-1 NF-kappaB1 NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): INF2 promoter sequence

Search SABiosciences Chromatin IP Primers for INF2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat INF2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.33 Ensembl cytogenetic band: 14q32.33 HGNC cytogenetic band: 14q32.33

INF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INF2 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P105155: view genomic region (about GC identifiers)

Start:	105,155,943 bp from pter	End:	105,185,947 bp from pter
Size:	30,005 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81 (See protein sequence)

Recommended Name: Inverted formin-2

Size: 1249 amino acids; 135624 Da

Subunit: Interacts with actin at the FH2 domain (By similarity)

Subcellular location: Cytoplasm, perinuclear region

Sequence caution: Sequence=AAH08756.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=AAH64828.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=ABD59343.1;

Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=ABD59344.1; Type=Erroneous initiation;

Note=Translation N-terminally extended; Sequence=ABD59345.1; Type=Erroneous initiation; Note=Translation N-terminally

extended; Sequence=BAB15224.1; Type=Erroneous termination; Positions=636, 759; Note=Translated as Lys, Gln;

Sequence=EAW81872.1; Type=Erroneous gene model prediction;

Secondary accessions: Q27J83 Q69YL8 Q6P1X7 Q6PK22 Q86TR7 Q9BRM1 Q9H6N1

Alternative splicing: 3 isoforms: Q27J81-1 Q27J81-2 Q27J81-3 (Contains a phosphoserine at position 1229)

Explore the universe of human proteins at neXtProt for INF2: NX_Q27J81

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q27J81

INF2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001026884.3 NP_071934.3 NP_116103.1

ENSEMBL proteins:

ENSP00000376406 ENSP00000381380 ENSP00000376410 ENSP00000252527 ENSP00000452010

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 2): INF2 OriGene Protein Over-expression Lysate: INF2 OriGene Custom Protein Services for INF2
	GenScript Custom Purified and Recombinant Proteins Services for INF2
	Novus Biologicals INF2 Proteins Novus Biologicals INF2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for INF2

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005783	endoplasmic reticulum	IDA	--
GO:0048471	perinuclear region of cytoplasm	IDA	--

INF2 for ontologies About GeneDecksing

INF2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of INF2
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for INF2
	GenScript Custom Superior Antibodies Services for INF2
	Novus Biologicals INF2 Antibodies
	Search for Antibodies for INF2 at Abcam
	Uscn Antibodies for INF2
	Search ThermoFisher Antibodies for INF2

Assay Products for INF2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for INF2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for INF2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

INF2 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR010473 Drf_GTPase-bd

IPR010472 Drf_FH3

IPR003124 WH2_dom

IPR015425 FH2_actin-bd

IPR003104 Actin-bd_FH2/DRF_autoreg

Graphical View of Domain Structure for InterPro Entry Q27J81

ProtoNet protein and cluster: Q27J81

1 Blocks protein family: IPB003104 Actin-binding FH2

UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81

Domain: The WH2 domain acts as the DAD (diaphanous autoregulatory) domain and binds to actin monomers (By similarity)

Domain: Regulated by autoinhibition due to intramolecular GBD-DAD binding (By similarity)

Domain: The severing activity is dependent on covalent attachment of the FH2 domain to the C-terminus (By similarity)

Similarity: Belongs to the formin homology family

Similarity: Contains 1 FH2 (formin homology 2) domain

Similarity: Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain

Similarity: Contains 1 WH2 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81

Function: Severs actin filaments and accelerates their polymerization and depolymerization (By similarity)

Enzyme regulation: Phosphate inhibits both the depolymerization and severing activities

miRNA Products:		OriGene 3'-UTR Clone (see all 3): INF2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat INF2
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate INF2:
		hsa-miR-3910 hsa-miR-124 hsa-miR-555 hsa-miR-506 hsa-miR-3714
		SwitchGear 3'UTR luciferase reporter plasmids (see all 2): INF2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for INF2 OriGene shRNA RFP: INF2 OriGene siRNA: INF2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat INF2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for INF2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for INF2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for INF2 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): INF2 (NM_000934)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for INF2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INF2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for INF2
		Search LifeMap BioReagents cell lines for INF2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INF2

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0017048	Rho GTPase binding	IEA	--

INF2 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for INF2:

Decreased focal adhesion (FA)

Downregulation of NF-kappaB pa

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for INF2

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

5 Interacting proteins for INF2 (Q27J81^{2, 3} ENSP00000376410⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBE2R2	Q712K3²^,³, ENSP00000263228⁴	MINT-8276278 I2D: score=2 STRING: ENSP00000263228
XRCC6	P12956³	I2D: score=1
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
--	Q96FS5³	I2D: score=1
--	Q9WMX2²	MINT-7048477

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030036	actin cytoskeleton organization	IEA	--

INF2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for INF2
Search CenterWatch for drugs/clinical trials and news about INF2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for INF2 gene (3 alternative transcripts):

NM_001031714.3 NM_022489.3 NM_032714.2

Unigene Cluster for INF2:

Inverted formin, FH2 and WH2 domain containing

Hs.24956 [show with all ESTs]

Unigene Representative Sequence: NM_022489

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000330634(uc001ypc.2) ENST00000398337(uc001yoy.4) ENST00000392634(uc001ypb.2 uc010awz.1)

ENST00000252527 ENST00000474229 ENST00000480763 ENST00000477497 ENST00000481338

miRNA Products:		OriGene 3'-UTR Clone (see all 3): INF2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat INF2
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate INF2:
		hsa-miR-3910 hsa-miR-124 hsa-miR-555 hsa-miR-506 hsa-miR-3714
		SwitchGear 3'UTR luciferase reporter plasmids (see all 2): INF2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for INF2 OriGene shRNA RFP: INF2 OriGene siRNA: INF2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat INF2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for INF2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for INF2 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): INF2 (NM_000934)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for INF2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INF2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for INF2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat INF2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat INF2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat INF2

Additional cDNA sequence:

AF318379.1 AK025709.1 AK027105.1 AK225325.1 AK290083.1 AL832905.1 BC006173.1 BC008756.2

BC064828.1 BX248757.1 DQ395338.1 DQ395339.1 DQ499599.1

15 DOTS entries:

DT.92463730 DT.100790959 DT.421490 DT.100649163 DT.97812386 DT.301828 DT.120773363 DT.97847264

DT.100000609 DT.120773338 DT.92023265 DT.95364216 DT.99929124 DT.120773361 DT.91871257

24/250 AceView cDNA sequences (see all 250):

BM781687 BQ005261 BG820892 BX479267 AW291558 BQ961310 BI767270 AW006121

BU633644 AI860458 BE888234 BM931920 AI391455 BG056925 BM738319 AI524635

BP360445 BQ877818 BM710966 AI239678 BM053072 AW136722 BQ949116 AI814398

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

INF2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCAGCCCCT

About this image

INF2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Cerebral Cortex

Brain

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

See INF2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for INF2

SOURCE GeneReport for Unigene cluster: Hs.24956

UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81

Tissue specificity: Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells

SABiosciences Custom PCR Arrays for INF2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for INF2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat INF2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat INF2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat INF2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INF2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for INF2 gene from 8/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	INF2¹	inverted formin, FH2 and WH2 domain containing	62.42(n) 63.21(a)		423492 XM_421396.3 XP_421396.3
lizard (Anolis carolinensis)	Reptilia	INF2⁶	--	64(a)	1 ↔ 1	1(4251464-4281838)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.14810²	Transcribed sequence with moderate similarity to protein more	76.49(n)		BX747576.1
zebrafish (Danio rerio)	Actinopterygii	LOC100329652¹	inverted formin-2-like	65.15(n) 61.39(a)		100329652 XM_002667346.2 XP_002667392.2
fruit fly (Drosophila melanogaster)	Insecta	form3¹	formin 3	47.91(n) 34.04(a)		3346238 NM_001104057.1 NP_001097527.1
worm (Caenorhabditis elegans)	Secernentea	inft-1⁶	--	12(a)	1 → many	III(1103214-1112288)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G32400⁶ AT5G07780⁶ (see all 21)	formin-like protein 19 (see all 21)	23(a) 22(a) (see all 21)	possible ortholog possible ortholog (see all 21)	3(13356995-13360572) 5(2479514-2482850)
rice (Oryza sativa)	Liliopsida	-- -- (see all 20)	formin-like protein 20, putative (see all 20)	9(a) 8(a) (see all 20)	possible ortholog possible ortholog (see all 20)	6(4223296-4227007) 7(24273183-24275962)

ENSEMBL Gene Tree for INF2 (if available)
TreeFam Gene Tree for INF2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for INF2 gene

DIAPH1² DAAM1² FMNL3² FHDC1² FMNL1² DAAM2² FMNL2² GRID2IP²

FMN1² DIAPH2² DIAPH3² FMN2²

INF2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111299272^1,2		--	85350653(+)	`ACCAGG/ATGTGC`	3	--	us2k¹		1		CSA	2
rs7155833^1,2	C,	--	85350982(+)	`CCTCCA/GGGGTG`	3	--	us2k¹		1		NA	120
rs73356792^1,2	C,	--	85351668(+)	`CTGGCG/ACCGGT`	3	--	us2k¹		1		WA	2
rs113821377^1,2		--	85351671(+)	`GCGCCG/AGTTCT`	3	--	us2k¹		2		CSA WA	119
rs58473825^1,2	F,	--	85351760(+)	`GCTGCC/TAGTGG`	3	--	us2k¹		1		WA	118
rs3861679^1,2	C,F,A,	--	85353411(-)	`ACACAC/TGCCGC`	3	--	int¹		1		EA	120
rs75500618^1,2	F,	--	85354274(+)	`TACTCG/TCCCTC`	3	--	int¹		1		WA	118
rs74607458^1,2		--	85355048(+)	`CCCCTC/TCCCTA`	3	--	int¹		0	--	--	--	--
rs76608574^1,2	F,	--	85355191(+)	`TAGGAG/CCCAGT`	3	--	int¹		1		EA	120
rs76537067^1,2		--	85355624(+)	`GGGTCA/GCCCCT`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for INF2 (105155943 - 105185947 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for INF2
8 CNVs: 53213 29964 59556 49290 49291 29963 29962 53064
Human Gene Mutation Database (HGMD): INF2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing INF2

DNA2.0 Custom Variant and Variant Library Synthesis for INF2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

INF2 for disorders           About GeneDecksing

OMIM gene information: 610982
OMIM disorders: 613237
UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81

Defects in INF2 are the cause of focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]. A renal

pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular

filtration rate and edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state

requiring either dialysis therapy or kidney transplantation

Defects in INF2 are the cause of Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE)

[MIM:614455]. A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by

progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The

dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating

and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients

additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end- stage renal disease, and a

characteristic histologic pattern on renal biopsy

6 diseases for INF2: About MalaCards

focal segmental glomerulosclerosis glomerulosclerosis charcot-marie-tooth disease focal segmental glomerulosclerosis 5

tooth disease gallbladder cancer

1 disease from the University of Copenhagen DISEASES database for INF2:

Focal segmental glomerulosclerosis

Human Genome Epidemiology (HuGE) Navigator: INF2 (1 document)

Export disorders for INF2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for INF2 gene, integrated from 9 sources (see all 40):
(articles sorted by number of sources associating them with INF2)

Utopia: connect your pdf to the dynamic
world of online information

INF2 mutations in Charcot-Marie-Tooth disease with gl omerulopathy. (PubMed id 22187985)^{1, 2} Boyer O....Mollet G. (2011)
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. (PubMed id 20023659)^{1, 2} Brown E.J.... Pollak M.R. (2010)
INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization. (PubMed id 16818491)^{1, 3} Chhabra E.S. and Higgs H.N. (2006)
A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis. (PubMed id 22971997)² Sanchez-Ares M.... Garcia-Gonzalez M.A. (2013)
An actin-dependent step in mitochondrial fission media ted by the ER-associated formin INF2. (PubMed id 23349293)¹ Korobova F....Higgs H.N. (2013)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Inverted formin 2 mutations with variable expression i n patients with sporadic and hereditary focal and segmental glomerulosclerosis. (PubMed id 21866090)¹ Gbadegesin R.A....Winn M.P. (2012)
Mutations to the formin homology 2 domain of INF2 prot ein have unexpected effects on actin polymerization and severing. (PubMed id 22879592)¹ Ramabhadran V....Higgs H.N. (2012)
INF2 promotes the formation of detyrosinated microtubu les necessary for centrosome reorientation in T cells. (PubMed id 22986496)¹ Andres-Delgado L....Alonso M.A. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 64423	HGNC: 23791	AceView: C14orf173	Ensembl:ENSG00000203485	euGenes: HUgn64423
ECgene: INF2	H-InvDB: INF2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for INF2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for INF2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for INF2 gene:
Search GeneIP for patents involving INF2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

	Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
	Browse Small Molecules at EMD Millipore
	Browse Purified and Recombinant Proteins at EMD Millipore
	EMD Millipore Mono- and Polyclonal Antibodies for the study of INF2
	Browse Kits and Assays available from EMD Millipore
	Browse for Gene Knock-down Tools from EMD Millipore

	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for INF2
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for INF2		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for INF2
	OriGene Protein Over-expression Lysate for INF2		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for INF2		OriGene 3'-UTR Clone for INF2
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for INF2		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for INF2
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for INF2		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for INF2		OriGene Custom Protein Services for INF2
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat INF2
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing INF2
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat INF2
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat INF2
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat INF2
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat INF2

	GenScript Custom Purified and Recombinant Proteins Services for INF2		GenScript cDNA clones with any tag delivered in your preferred vector for INF2
	GenScript Custom Assay Services for INF2		GenScript Custom Superior Antibodies Services for INF2
	GenScript Custom overexpressing Cell Line Services for INF2		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in INF2 promoter
	Search Chromatin IP Primers for INF2
	RT² qPCR Primer Assay in human, mouse, rat INF2
	Search GNC Networks for INF2
	SABiosciences Custom PCR Arrays for INF2

Search Tocris compounds for INF2

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	INF2 antibodies
	INF2 proteins
	INF2 lysates

	Search for Antibodies for INF2 at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for INF2
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

INF2 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for INF2

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INF2

	SwitchGear 3'UTR luciferase reporter plasmids for INF2
	SwitchGear Promoter luciferase reporter plasmids for INF2

Search ThermoFisher Antibodies for INF2

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INF2

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes INF2 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

INF2 Gene

inverted formin, FH2 and WH2 domain containing

Aliases
for INF2 gene

Summaries
for INF2 gene

Genomic Views
for INF2 gene

Proteins
for INF2 gene

Protein Domains /
Families
for INF2 gene

Function
for INF2 gene

Pathways & Interactions
for INF2 gene

Drugs & Compounds
for INF2 gene

Transcripts
for INF2 gene

Expression
for INF2 gene

Orthologs
for INF2 gene

Paralogs
for INF2 gene

Genomic Variants
for INF2 gene

Disorders / Diseases
for INF2 gene

Publications
for INF2 gene

External Searches for INF2 gene

Genome Databases showing INF2 gene

Other Databases showing INF2 gene

Specialized Databases showing INF2 gene

Intellectual Property
for INF2 gene

Products
for INF2 gene

View Random Gene

Advanced Search

Export list of displayed genes

INF2 Gene

inverted formin, FH2 and WH2 domain containing

Aliasesfor INF2 gene

Summariesfor INF2 gene

Genomic Viewsfor INF2 gene

Proteinsfor INF2 gene

Protein Domains /Familiesfor INF2 gene

Functionfor INF2 gene

Pathways & Interactionsfor INF2 gene

Drugs & Compoundsfor INF2 gene

Transcriptsfor INF2 gene

Expression for INF2 gene

Orthologsfor INF2 gene

Paralogsfor INF2 gene

Genomic Variantsfor INF2 gene

Disorders / Diseasesfor INF2 gene

Publicationsfor INF2 gene

External Searches for INF2 gene

Genome Databases showing INF2 gene

Other Databases showing INF2 gene

Specialized Databases showing INF2 gene

Intellectual Propertyfor INF2 gene

Productsfor INF2 gene

View Random Gene

Aliases
for INF2 gene

Summaries
for INF2 gene

Genomic Views
for INF2 gene

Proteins
for INF2 gene

Protein Domains /
Families
for INF2 gene

Function
for INF2 gene

Pathways & Interactions
for INF2 gene

Drugs & Compounds
for INF2 gene

Transcripts
for INF2 gene

Expression
for INF2 gene

Orthologs
for INF2 gene

Paralogs
for INF2 gene

Genomic Variants
for INF2 gene

Disorders / Diseases
for INF2 gene

Publications
for INF2 gene

Intellectual Property
for INF2 gene

Products
for INF2 gene