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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRAF2 Gene

protein-coding   GIFtS: 49
GCID: GC0XM048928

PRA1 domain family, member 2

(Previous name: PRA1 domain family 2 )
 Explore 4 diseases affiliated with
PRAF2 via our new
 Human Malady Compendium 
Biological research products
for PRAF2
    

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

Aliases
PRA1 Domain Family, Member 21 2
PRA1 Domain Family 21 2
JM41
Jena-Muenchen 42
PRA1 Family Protein 22

External Ids:    HGNC: 289111   Entrez Gene: 112302   Ensembl: ENSG000002432797   OMIM: 3008405   UniProtKB: O608313   

Export aliases for PRAF2 gene to outside databases

Previous GC identifers: GC0XM048685 GC0XM048815 GC0XM046585


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

UniProtKB/Swiss-Prot: PRAF2_HUMAN, O60831
Function: May be involved in ER/Golgi transport and vesicular traffic. Plays a proapoptic role in cerulenin-induced
neuroblastoma apoptosis




(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_000023.10  NC_018934.1  NT_079573.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRAF2 gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   Tal-1beta   E47   CREB   E2F-1   E2F   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRAF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRAF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRAF2


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

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

PRAF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRAF2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM048928:  view genomic region     (about GC identifiers)

Start:
48,928,818 bp from pter      End:
48,931,733 bp from pter
Size:
2,916 bases      Orientation:
minus 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: PRAF2_HUMAN, O60831 (See protein sequence)
Recommended Name: PRA1 family protein 2  
Size: 178 amino acids; 19258 Da
Subunit: Interacts with CCR5 and GDE1
Subcellular location: Endosome membrane; Multi-pass membrane protein (Probable)
Secondary accessions: B2RD20

Explore the universe of human proteins at neXtProt for PRAF2: NX_O60831

PRAF2 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_009144.1  
ENSEMBL proteins: 
 ENSP00000365570   ENSP00000365566  

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Uscn Proteins for PRAF2

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

GO IDQualified GO termEvidencePubMed IDs
GO:0010008endosome membrane IEA--
GO:0016021integral to membrane IEA--


PRAF2 for ontologies           About GeneDecksing



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

PRAF2 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR004895 Prenylated_rab_accept_PRA1

Graphical View of Domain Structure for InterPro Entry O60831

ProtoNet protein and cluster: O60831

UniProtKB/Swiss-Prot: PRAF2_HUMAN, O60831
Similarity: Belongs to the PRA1 family


(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: PRAF2_HUMAN, O60831
Function: May be involved in ER/Golgi transport and vesicular traffic. Plays a proapoptic role in cerulenin-induced
neuroblastoma apoptosis

miRNA
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hsa-miR-1321 hsa-miR-182 hsa-miR-3199 hsa-miR-631 hsa-miR-330-5p hsa-miR-326 hsa-miR-3661 hsa-miR-744*
SwitchGear 3'UTR luciferase reporter plasmidPRAF2 3' UTR sequence
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2 GenomeRNAi human phenotypes for PRAF2:
 Decreased cilium length  Decreased cilium length after  


(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 CentralTM Interacting Genes and Proteins Networks for PRAF2

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/10 Interacting proteins for PRAF2 (O608312, 3 ENSP000003655704) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
InteractantInteraction Details
GeneCardExternal ID(s)
ARL6IP5O759152, 3, ENSP000002732584MINT-58206 MINT-58200 MINT-58205 MINT-58202 I2D: score=3 STRING: ENSP00000273258
CCR5P516812, 3, ENSP000002923034MINT-58198 MINT-58199 MINT-58207 I2D: score=2 STRING: ENSP00000292303
PLIN3O606642, 3, ENSP000002219574MINT-58203 I2D: score=1 STRING: ENSP00000221957
CANXP278242, 3, ENSP000002474614MINT-58201 I2D: score=1 STRING: ENSP00000247461
RHOBP627453, ENSP000002722334I2D: score=1 STRING: ENSP00000272233
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0015031protein transport IEA--
GO:0015813L-glutamate transport ISS--


PRAF2 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 PRAF2
Search CenterWatch for drugs/clinical trials and news about PRAF2 

(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,
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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 PRAF2 gene: 
NM_007213.1  

Unigene Cluster for PRAF2:

PRA1 domain family, member 2
Hs.29595  [show with all ESTs]
Unigene Representative Sequence: BF982837
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000376390(uc004dmi.3) ENST00000491199 ENST00000376386

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hsa-miR-1321 hsa-miR-182 hsa-miR-3199 hsa-miR-631 hsa-miR-330-5p hsa-miR-326 hsa-miR-3661 hsa-miR-744*
SwitchGear 3'UTR luciferase reporter plasmidPRAF2 3' UTR sequence
Inhib. RNA
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Additional cDNA sequence: 

AJ005896.1 AK023433.1 AK310550.1 AK315374.1 BC021213.2 CR457023.1 

6 DOTS entries:

DT.87016785  DT.100796043  DT.95126895  DT.40249386  DT.121290065  DT.40110915 

24/247 AceView cDNA sequences (see all 247):

AI279534 AI560435 BQ674893 BU194666 CB155577 BQ672022 BI820498 BM699099 
CR597667 CD518846 BC021213 BE391049 BQ051986 AI962235 BM684565 BM552522 
AI360915 CF127497 AW327921 AU107631 BF057770 CB141564 AI184439 BQ943415 

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

PRAF2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCCTGTGTG

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See PRAF2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PRAF2

SOURCE GeneReport for Unigene cluster: Hs.29595

UniProtKB/Swiss-Prot: PRAF2_HUMAN, O60831
Tissue specificity: Strong expression in the brain, small intestine, lung, spleen, and pancreas as well as in tumor
tissues of the breast, colon, lung and ovary, with a weaker expression in normal tissues of the same patient. High
expression in neuroblastic tumors. Strongly expressed in Purkinje cells and more moderately in cells of the molecular
and the granular layers in the cerebellum. Detected in neuronal cells, but not in non-neuronal cells in the cerebral
cortex, hippocampus, and lateral ventricles

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In Situ
Assay Products:
 

 
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(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 animals.

Orthologs for PRAF2 gene from 4/14 species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
lizard
(Anolis carolinensis)
Reptilia PRAF26
--
66(a)
1 ↔ 1
GL343326.1(808765-819129)
zebrafish
(Danio rerio)
Actinopterygii praf21 PRA1 domain family, member 2 58.8(n)
58.43(a)
  550393  NM_001017698.1  NP_001017698.1 
fruit fly
(Drosophila melanogaster)
Insecta Jwa6
Jwa ortholog
28(a)
1 → many
2L(18704570-18705699)
worm
(Caenorhabditis elegans)
Secernentea praf-36
Prenylated Rab Acceptor 1 domain Family family mem...
28(a)
1 → many
IV(8379977-8381903)


ENSEMBL Gene Tree for PRAF2 (if available)
TreeFam Gene Tree for PRAF2 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for PRAF2 gene
ARL6IP52  ENSG000002502322  
2 SIMAP similar genes for PRAF2 using alignment to 2 protein entries:     PRAF2_HUMAN (see all proteins):
WDR45    ARL6IP5

PRAF2 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

10/39 NCBI SNPs in PRAF2 are shown (see all 39    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1130841171,2
C,--48928423(+) TGGCAC/TAATCA 1 -- ds50012Minor allele frequency- T:0.00WA CSA 3
rs1846651491,2
--48928532(+) TTTAAA/TTTTTT 1 -- ds50010--------
rs1887330951,2
--48928707(+) AAGGGC/TCTCAG 1 -- ds50010--------
rs1815152541,2
--48928917(+) TTGTCC/GATGGT 1 -- ut310--------
rs18029571,2
C,--48929167(-) CCTGGG/AGCAAG 1 -- ut312Minor allele frequency- A:0.00WA CSA 3
rs1449726071,2
C,--48929302(+) GTCCTA/GGGTTC 1 -- ut310--------
rs413097311,2
C,--48929392(+) AGGGCA/GGTCAC 1 -- ut310--------
rs1859042341,2
--48929562(+) GTGCCA/TCTAGT 2 E V mis10--------
rs1491812311,2
C,F--48929614(+) CTTGTT/GCTCAA 2 /N /H mis11Minor allele frequency- G:0.00NA 4544
rs1433451641,2
C--48929620(+) CTCAAT/GCTTGT 2 /I /L mis11Minor allele frequency- G:0.00NA 4546

HapMap Linkage Disequilibrium report for PRAF2 (48928818 - 48931733 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PRAF2
     1 CNV: 7789

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(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

PRAF2 for disorders           About GeneDecksing

OMIM gene information: 300840    OMIM disorders: --

4 diseases for PRAF2:    About MalaCards
malignant glioma    cerebritis    neuroblastoma    neuronitis


Export disorders for PRAF2 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 PRAF2 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with PRAF2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genomic organization, expression profile, and characterization of the new protein PRA1 domain family, member 2 (PRAF2). (PubMed id 16481131)1, 2, 3, 9 Fo C.S.... Bachmann A.S. (2006)
  2. Expression profile of PRAF2 in the human brain and enrichment in synaptic vesicles. (PubMed id 18395978)1, 2, 9 Koomoa D.-L.... Bachmann A.S. (2008)
  3. Expression of prenylated Rab acceptor 1 domain family, member 2 (PRAF2) in neuroblastoma: correlation with clinical features, cellular localization, and cerulenin-mediated apoptosis regulation. (PubMed id 17975142)1, 2 Geerts D.... Bachmann A.S. (2007)
  4. JM4 is a four-transmembrane protein binding to the CCR5 receptor. (PubMed id 15757671)1, 2 Schweneker M.... Moelling K. (2005)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
  8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
  9. Subcellular distribution and expression of prenylated Rab acceptor 1 domain family, member 2 (PRAF2) in malignant glioma: Influence on cell survival and migration. (PubMed id 20412121)1 Borsics T....Bachmann A.S. (2010)
  10. Praf2 is a novel Bcl-xL/Bcl-2 interacting protein wit h the ability to modulate survival of cancer cells. (PubMed id 21203533)1 Vento M.T....Iaccarino I. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 11230 HGNC: 28911 AceView: PRAF2 Ensembl:ENSG00000243279 euGenes: HUgn11230
ECgene: PRAF2 H-InvDB: PRAF2

(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
NameDescription
PharmGKB entry for PRAF2 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PRAF2 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for PRAF2 gene:
Search GeneIP for patents involving PRAF2

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

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 Browse OriGene Antibodies   OriGene shRNA RFP for PRAF2  
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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VWF
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von Willebrand factor
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