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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCM2 Gene

protein-coding GIFtS: 57
GCID: GC07P045039

cerebral cavernous malformation 2

(Previous name: chromosome 7 open reading frame 22 )
(Previous symbol: C7orf22)

Explore 14 diseases affiliated with
CCM2 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
Cerebral Cavernous Malformation 2¹ ²		Chromosome 7 Open Reading Frame 22¹
C7orf22¹ ² ³ ⁵		OSM²
Cerebral Cavernous Malformations 2 Protein² ³		Malcavernin¹
MGC4607¹		MGC4067⁵

External Ids:	HGNC: 21708¹	Entrez Gene: 83605²	Ensembl: ENSG00000136280⁷	OMIM: 607929⁵	UniProtKB: Q9BSQ5³

Export aliases for CCM2 gene to outside databases

Previous GC identifers: GC07U990144 GC00U914335 GC07P044781 GC07P044813 GC07P045006 GC07P044924

(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 CCM2:

This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK)

signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a

phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure,

cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous

malformations. Multiple transcript variants encoding different isoforms have been found for this gene.(provided by

RefSeq, Nov 2009)

UniProtKB/Swiss-Prot: CCM2_HUMAN, Q9BSQ5

Function: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and

integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold

protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation

induced by hyperosmotic shock (By similarity)

Gene Wiki entry for CCM2

(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_000007.13 NC_018918.1 NT_007819.17 NT_079592.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCM2 gene promoter:
SRY AML1a Ik-2 Lmo2 XBP-1 Tal-1beta GATA-1 Arnt
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): CCM2 promoter sequence

Search SABiosciences Chromatin IP Primers for CCM2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCM2

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

Entrez Gene cytogenetic band: 7p13 Ensembl cytogenetic band: 7p13 HGNC cytogenetic band: 7p13

CCM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCM2 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P045039: view genomic region (about GC identifiers)

Start:	45,039,074 bp from pter	End:	45,116,069 bp from pter
Size:	76,996 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 45,078,823-45,155,546

(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: CCM2_HUMAN, Q9BSQ5 (See protein sequence)

Recommended Name: Malcavernin

Size: 444 amino acids; 48837 Da

Subunit: Part of a complex with MAP2K3, MAP3K3 and RAC1. Binds RAC1 directly and independently of its nucleotide-bound

state (By similarity). Interacts with HEG1 and KRIT1; KRIT1 greatly facilitates the interaction with HEG1 (By

similarity). Interacts with PDCD10

Subcellular location: Cytoplasm (By similarity)

1 PDB 3D structure from and Proteopedia for CCM2:

4FQN (3D)

Secondary accessions: A4D2L4 B3KUV0 D3DVL4 E9PDJ3 Q71RE5 Q8TAT4

Alternative splicing: 2 isoforms: Q9BSQ5-1 Q9BSQ5-2

Explore the universe of human proteins at neXtProt for CCM2: NX_Q9BSQ5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BSQ5

CCM2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001025006.1 NP_001161406.1 NP_001161407.1 NP_113631.1

ENSEMBL proteins:

ENSP00000258781 ENSP00000417251 ENSP00000417180 ENSP00000419474 ENSP00000418763

ENSP00000444725 ENSP00000438035 ENSP00000370503

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 Protein: CCM2 OriGene Protein Over-expression Lysate (see all 3): CCM2 OriGene Custom Protein Services for CCM2
	GenScript Custom Purified and Recombinant Proteins Services for CCM2
	Novus Biologicals CCM2 Proteins Novus Biologicals CCM2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CCM2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	16037064
GO:0043234	protein complex	--	--

CCM2 for ontologies About GeneDecksing

CCM2 Antibody Products:

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	Novus Biologicals CCM2 Antibodies
	Search for Antibodies for CCM2 at Abcam
	Uscn Antibodies for CCM2
	ThermoFisher Antibodies for CCM2

Assay Products for CCM2:

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	GenScript Custom Assay Services for CCM2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CCM2

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

CCM2 for domains About GeneDecksing

3 InterPro domains/families:

IPR011993 PH_like_dom

IPR006020 PTyr_interaction_dom

IPR026159 Malcavernin

Graphical View of Domain Structure for InterPro Entry Q9BSQ5

ProtoNet protein and cluster: Q9BSQ5

1 Blocks protein family: IPB006020 Phosphotyrosine interaction domain

UniProtKB/Swiss-Prot: CCM2_HUMAN, Q9BSQ5

Domain: The C-terminal region constitutes an independently folded domain that has structural similarity with the USH1C

(harmonin) N-terminus, despite very low sequence similarity

Similarity: Belongs to the CCM2 family

Similarity: Contains 1 PID 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: CCM2_HUMAN, Q9BSQ5

Function: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and

integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold

protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation

induced by hyperosmotic shock (By similarity)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CCM2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCM2
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate CCM2 (see all 20):
		hsa-miR-3607-5p hsa-miR-4251 hsa-miR-513a-5p hsa-miR-128 hsa-miR-944 hsa-miR-3921 hsa-miR-1323 hsa-miR-23a

		SwitchGear 3'UTR luciferase reporter plasmid: CCM2 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 CCM2 (see all 7) OriGene shRNA RFP: CCM2 OriGene siRNA: CCM2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCM2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CCM2

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 CCM2 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCM2 (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): CCM2 (NM_001029835)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCM2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCM2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CCM2
		Search LifeMap BioReagents cell lines for CCM2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCM2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	17657516

CCM2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for CCM2: Ccm2^tm1.1Kwhi Ccm2^tm1.1Etl Ccm2^tm1Sbn
     15 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Ccm2):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
growth/size	hematopoietic system	homeostasis/metabolism	immune system	integument
mortality/aging	muscle	nervous system	normal	vision/eye

CCM2 for phenotypes About GeneDecksing

(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

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Regulation of p38-alpha and p38-beta

Regulation of p38-alpha and p38-beta

1.00

p38 MAPK signaling pathway

p38 MAPK signaling pathway

1.00

2 BioSystems Pathways for CCM2

	p38 MAPK signaling pathway
	Regulation of p38-alpha and p38-beta

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CCM2

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/11 Interacting proteins for CCM2 (Q9BSQ5^{1, 2, 3} ENSP00000370503⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDCD10	Q9BUL8¹^,²^,³	EBI-1573056,EBI-2556229 MINT-8404432 I2D: score=1
KRIT1	O00522¹^,³, ENSP00000344668⁴	EBI-1573056,EBI-1573121 I2D: score=3 STRING: ENSP00000344668
STK25	O00506³, ENSP00000325748⁴	I2D: score=1 STRING: ENSP00000325748
ITGB1BP1	O14713³	I2D: score=1
MAP2K3	ENSP00000345083⁴	STRING: ENSP00000345083

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001568	blood vessel development	--	--
GO:0001570	vasculogenesis	IMP	14740320
GO:0001701	in utero embryonic development	--	--
GO:0001885	endothelial cell development	--	--
GO:0001944	vasculature development	--	--

CCM2 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 CCM2
Search CenterWatch for drugs/clinical trials and news about CCM2

(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 CCM2 gene (4 alternative transcripts):

NM_001029835.2 NM_001167934.1 NM_001167935.1 NM_031443.3

Unigene Cluster for CCM2:

Cerebral cavernous malformation 2

Hs.148272 [show with all ESTs]

Unigene Representative Sequence: BC063663

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000461377 ENST00000258781(uc003tmn.3 uc003tmo.3) ENST00000478582

ENST00000488727 ENST00000478169 ENST00000475551 ENST00000482714(uc011kcb.2)

ENST00000480658 ENST00000492883(uc011kcc.2) ENST00000474617 ENST00000472223

ENST00000476594 ENST00000481194 ENST00000477605 ENST00000480382 ENST00000470837

ENST00000541586(uc003tmp.3) ENST00000544363(uc003tmr.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CCM2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCM2
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate CCM2 (see all 20):
		hsa-miR-3607-5p hsa-miR-4251 hsa-miR-513a-5p hsa-miR-128 hsa-miR-944 hsa-miR-3921 hsa-miR-1323 hsa-miR-23a

		SwitchGear 3'UTR luciferase reporter plasmid: CCM2 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 CCM2 (see all 7) OriGene shRNA RFP: CCM2 OriGene siRNA: CCM2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCM2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCM2 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCM2 (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): CCM2 (NM_001029835)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCM2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCM2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCM2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CCM2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCM2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCM2

Additional cDNA sequence:

AF370392.1 AK025807.1 AK098005.1 AK124060.1 AK298671.1 AK303216.1 AK303534.1 BC004903.2

BC008859.2 BC016832.2 BC025958.1 BC063663.1 NR_030770.1

24/26 DOTS entries (see all 26):

DT.115138 DT.91748621 DT.95265625 DT.101985403 DT.101985404 DT.75177829 DT.100658551 DT.100708054

DT.40246656 DT.100874334 DT.421395 DT.100658554 DT.100658556 DT.95265630 DT.97854011 DT.97854012

DT.121115768 DT.95265627 DT.95265628 DT.100753867 DT.100865952 DT.95265624 DT.100869005 DT.121115819

24/354 AceView cDNA sequences (see all 354):

AI538498 BU930943 BF894867 BM696552 BX641167 BF477444 BM720365 BQ430893

BQ928880 CA397994 BM705833 BX404704 BC008859 BI093031 BQ233232 BM667711

BG770526 CR604060 BQ894632 AI568693 BX436554 BX415190 CB123887 BG341560

GeneLoc Exon Structure

5/28 Alternative Splicing Database (ASD) splice patterns (SP) for CCM2 (see all 28) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	^	3	^	4a	·	4b	^	5a	·	5b	^	6	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12a	·	12b	·	12c	·	12d	^	13a	·	13b	^	14a	·	14b	·	14c	^
SP1:											-		-		-		-		-		-						-		-		-												-
SP2:																					-						-		-		-												-
SP3:											-		-		-		-		-		-						-		-		-												-		-		-		-		-
SP4:											-		-		-		-		-								-		-		-												-		-		-		-		-
SP5:											-		-		-		-		-		-		-		-		-		-		-												-

ExUns:	15a	·	15b	·	15c	^	16a	·	16b	^	17a	·	17b	^	18	^	19a	·	19b	·	19c	^	20a	·	20b	·	20c	·	20d	^	21a	·	21b	·	21c	·	21d	·	21e	·	21f	·	21g
SP1:							-		-		-				-								-
SP2:							-		-		-				-								-
SP3:	-		-		-		-		-		-				-								-
SP4:							-		-		-				-
SP5:							-		-		-				-								-

ECgene alternative splicing isoforms for CCM2

(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

CCM2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATGTTCCTAT

About this image

CCM2 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)

Ovary

Primary Follicle

Primary Oocyte

Female Gametocytes, Germ Cells

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CCM2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCM2

SOURCE GeneReport for Unigene cluster: Hs.148272

SABiosciences Custom PCR Arrays for CCM2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCM2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CCM2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCM2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCM2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCM2

(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 chordates.

Orthologs for CCM2 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CCM2¹	cerebral cavernous malformation 2	80.23(n) 85.98(a)		420410 NM_001197144.1 NP_001184073.1
lizard (Anolis carolinensis)	Reptilia	CCM2⁶	--	80(a)	1 ↔ 1	GL344330.1(20645-39173)
African clawed frog (Xenopus laevis)	Amphibia	Xl.6991²	Xenopus laevis transcribed sequence with moderate similarity more	75.12(n)		BJ623365.1
zebrafish (Danio rerio)	Actinopterygii	ccm2¹	cerebral cavernous malformation 2	71.08(n) 77.49(a)		436586 NM_001002315.2 NP_001002315.1

ENSEMBL Gene Tree for CCM2 (if available)
TreeFam Gene Tree for CCM2 (if available)

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

Paralogs for CCM2 gene

CCM2L²

1 SIMAP similar gene for CCM2 using alignment to 7 protein entries: CCM2_HUMAN (see all proteins):

CCM2L

CCM2 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 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1476617^1,2	C,F,A,H,	--	45037734(+)	`TATCTT/CTAAAA`	1	--	us2k¹		11		NA WA CSA EA	372
rs141304751^1,2		--	45037834(+)	`AGAGAA/GAGACA`	4	--	us2k¹		0	--	--	--	--
rs150798844^1,2		--	45038218(+)	`TGTTGC/TTTACT`	4	--	us2k¹		0	--	--	--	--
rs139007367^1,2		--	45038244(+)	`AAATAC/TGCATT`	4	--	us2k¹		0	--	--	--	--
rs149461932^1,2		--	45038251(+)	`CATTTA/GTGGAA`	4	--	us2k¹		0	--	--	--	--
rs139881562^1,2		--	45038432(+)	`ATACTC/TATGCC`	4	--	us2k¹		0	--	--	--	--
rs189714959^1,2		--	45038489(+)	`ACATAA/GGCCCA`	4	--	us2k¹		0	--	--	--	--
rs6463259^1,2	C,F,H,	--	45038609(+)	`ATCACG/CAGGTC`	4	--	us2k¹		8		NS NA WA CSA	239
rs181357300^1,2		--	45038630(+)	`GACCAC/TGGTGA`	4	--	us2k¹		0	--	--	--	--
rs2158564^1,2	C,F,H,	--	45038881(+)	`TACCGA/GCAGAT`	4	--	us2k¹		25		NA EA NS WA CSA	2708

HapMap Linkage Disequilibrium report for CCM2 (45039074 - 45116069 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CCM2
1 Indel: 12928
Human Gene Mutation Database (HGMD): CCM2

SABiosciences Cancer Mutation PCR Assays

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

CCM2 for disorders           About GeneDecksing

OMIM gene information: 607929
OMIM disorders: 603284
UniProtKB/Swiss-Prot: CCM2_HUMAN, Q9BSQ5

Defects in CCM2 are the cause of cerebral cavernous malformations type 2 (CCM2) [MIM:603284]. Cerebral

cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in

hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. CCMs have an incidence of 0.1%-0.5%

in the general population and are usually present clinically during the 3rd to 5th decades of life. The lesions are

characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any

intervening neural tissue, ranging in diameter from a few millimeters to several centimeters

14 diseases for CCM2: About MalaCards

cerebral cavernous malformations cavernous malformation cerebral cavernous malformations-2 cerebritis

klippel-trenaunay syndrome cerebral cavernous malformations 3 cerebral angioma cerebrovascular accident

venous malformations acrocallosal syndrome vascular malformations headache

retinitis neuronitis

2 diseases from the University of Copenhagen DISEASES database for CCM2:

Cerebrovascular accident Acrocallosal syndrome

5 Novoseek disease relationships for CCM2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cerebral cavernous malformations	98.8	32	19088124 (2), 17345049 (2), 17657516 (2), 16373645 (1) (see all 19)
hemorrhagic stroke	84.7	1	19370760 (1)
vascular anomaly	76.7	1	15905966 (1)
malformation venous	71.7	1	16379592 (1)
klippel-trenaunay syndrome	60.6	1	16379592 (1)

GeneTests: CCM2

Familial Cerebral Cavernous Malformation

Human Genome Epidemiology (HuGE) Navigator: CCM2 (4 documents)

Export disorders for CCM2 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 CCM2 gene, integrated from 9 sources (see all 80):
(articles sorted by number of sources associating them with CCM2)

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

Mutations within the MGC4607 gene cause cerebral cavernous malformations. (PubMed id 14740320)^{1, 2, 9} Denier C....Tournier-Lasserve E. (2004)
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. (PubMed id 14624391)^{1, 2, 9} Liquori C.L.... Marchuk D.A. (2003)
Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)^{1, 2} Wan D....Gu J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)^{1, 2} Scherer S.W.... Tsui L.-C. (2003)
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. (PubMed id 9811928)^{1, 3} Craig H.D....Lifton R.P. (1998)
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex. (PubMed id 18300272)^{1, 9} Stahl S....Felbor U. (2008)
CCM2 expression parallels that of CCM1. (PubMed id 16373645)^{1, 9} Seker A....Gunel M. (2006)
Deletions in CCM2 are a common cause of cerebral cavernous malformations. (PubMed id 17160895)^{1, 9} Liquori C.L....Marchuk D.A. (2007)

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

		AND	OR
Aliases
Disorders
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: 83605	HGNC: 21708	AceView: CCM2	Ensembl:ENSG00000136280	euGenes: HUgn83605
ECgene: CCM2	H-InvDB: CCM2

(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 CCM2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CCM2

Intellectual Property for CCM2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CCM2 gene:
Search GeneIP for patents involving CCM2

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

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cerebral cavernous malformation 2

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cerebral cavernous malformation 2

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