Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	83605
Gene name Gene Name - the full gene name approved by the HGNC.	CCM2 scaffold protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CCM2
Synonyms (NCBI Gene) Gene synonyms aliases	C7orf22, OSM, PP10187
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p13
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(35)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852841	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137852843	T>G	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs755800734	C>T	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, stop gained
rs765548101	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, synonymous variant
rs886041157	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1057520070	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1131691312	->AG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1131691538	TTCT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1204653825	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1331484727	->C	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554365507	A>G	Likely-pathogenic	Splice acceptor variant, intron variant
rs1554365511	->ATTTAAACGAGTATTTAAA	Pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, intron variant, stop gained
rs1554365577	->G	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554375233	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554377652	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs1562881854	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1562881859	AG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1562881980	TG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1562882045	AGAC>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1562882049	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1562906798	AA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562906981	G>A	Pathogenic	Splice donor variant
rs1562907331	GCCCTGTGGTTCCTTCCAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCGT>-	Likely-pathogenic	Splice acceptor variant, non coding transcript variant, intron variant, coding sequence variant
rs1562907365	G>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1562907455	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562912426	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs1562912441	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1562912528	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, intron variant
rs1562913873	G>A	Pathogenic	Splice acceptor variant, intron variant
rs1562917629	G>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant
rs1562921605	AG>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1583901813	ATGAGAAGGTGACAGAGAGGCGCCCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1583970495	->GCCC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583983649	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs1583984070	G>C	Pathogenic	Intron variant, splice donor variant

Show/Hide all(96)

miRTarBase ID	miRNA	Experiments
MIRT871135	hsa-miR-1323	CLIP-seq
MIRT871136	hsa-miR-19a	CLIP-seq
MIRT871137	hsa-miR-19b	CLIP-seq
MIRT871138	hsa-miR-2277-3p	CLIP-seq
MIRT871139	hsa-miR-3607-5p	CLIP-seq
MIRT871140	hsa-miR-3660	CLIP-seq
MIRT871141	hsa-miR-3914	CLIP-seq
MIRT871142	hsa-miR-4287	CLIP-seq
MIRT871143	hsa-miR-4292	CLIP-seq
MIRT871144	hsa-miR-4308	CLIP-seq
MIRT871145	hsa-miR-4446-3p	CLIP-seq
MIRT871146	hsa-miR-4462	CLIP-seq
MIRT871147	hsa-miR-4469	CLIP-seq
MIRT871148	hsa-miR-4526	CLIP-seq
MIRT871149	hsa-miR-4656	CLIP-seq
MIRT871150	hsa-miR-4685-3p	CLIP-seq
MIRT871151	hsa-miR-4701-5p	CLIP-seq
MIRT871152	hsa-miR-548a-3p	CLIP-seq
MIRT871153	hsa-miR-548e	CLIP-seq
MIRT871154	hsa-miR-548f	CLIP-seq
MIRT871155	hsa-miR-548o	CLIP-seq
MIRT871156	hsa-miR-588	CLIP-seq
MIRT871157	hsa-miR-182	CLIP-seq
MIRT871136	hsa-miR-19a	CLIP-seq
MIRT871137	hsa-miR-19b	CLIP-seq
MIRT871158	hsa-miR-23a	CLIP-seq
MIRT871159	hsa-miR-23b	CLIP-seq
MIRT871160	hsa-miR-23c	CLIP-seq
MIRT871161	hsa-miR-338-5p	CLIP-seq
MIRT871139	hsa-miR-3607-5p	CLIP-seq
MIRT871141	hsa-miR-3914	CLIP-seq
MIRT871162	hsa-miR-3921	CLIP-seq
MIRT871163	hsa-miR-3974	CLIP-seq
MIRT871164	hsa-miR-4251	CLIP-seq
MIRT871165	hsa-miR-4329	CLIP-seq
MIRT871166	hsa-miR-4477b	CLIP-seq
MIRT871167	hsa-miR-4653-5p	CLIP-seq
MIRT871168	hsa-miR-4693-3p	CLIP-seq
MIRT871169	hsa-miR-4756-3p	CLIP-seq
MIRT871170	hsa-miR-593	CLIP-seq
MIRT871171	hsa-miR-944	CLIP-seq
MIRT871158	hsa-miR-23a	CLIP-seq
MIRT871159	hsa-miR-23b	CLIP-seq
MIRT871160	hsa-miR-23c	CLIP-seq
MIRT871168	hsa-miR-4693-3p	CLIP-seq
MIRT871171	hsa-miR-944	CLIP-seq
MIRT2195403	hsa-miR-128	CLIP-seq
MIRT2195404	hsa-miR-1285	CLIP-seq
MIRT2195405	hsa-miR-205	CLIP-seq
MIRT2195406	hsa-miR-27a	CLIP-seq
MIRT2195407	hsa-miR-27b	CLIP-seq
MIRT2195408	hsa-miR-3125	CLIP-seq
MIRT2195409	hsa-miR-3187-5p	CLIP-seq
MIRT2195410	hsa-miR-378g	CLIP-seq
MIRT2195411	hsa-miR-3916	CLIP-seq
MIRT2195412	hsa-miR-4268	CLIP-seq
MIRT2195413	hsa-miR-4448	CLIP-seq
MIRT871146	hsa-miR-4462	CLIP-seq
MIRT2195414	hsa-miR-4486	CLIP-seq
MIRT2195415	hsa-miR-4660	CLIP-seq
MIRT2195416	hsa-miR-4757-3p	CLIP-seq
MIRT2195417	hsa-miR-513a-5p	CLIP-seq
MIRT2195418	hsa-miR-612	CLIP-seq
MIRT2195419	hsa-miR-877	CLIP-seq
MIRT2195420	hsa-miR-936	CLIP-seq
MIRT871171	hsa-miR-944	CLIP-seq
MIRT2195403	hsa-miR-128	CLIP-seq
MIRT2195406	hsa-miR-27a	CLIP-seq
MIRT2195407	hsa-miR-27b	CLIP-seq
MIRT2195408	hsa-miR-3125	CLIP-seq
MIRT2385700	hsa-miR-3661	CLIP-seq
MIRT2195411	hsa-miR-3916	CLIP-seq
MIRT2385701	hsa-miR-4632	CLIP-seq
MIRT2385702	hsa-miR-4751	CLIP-seq
MIRT2385703	hsa-miR-492	CLIP-seq
MIRT2385704	hsa-miR-631	CLIP-seq
MIRT2195419	hsa-miR-877	CLIP-seq
MIRT2195420	hsa-miR-936	CLIP-seq
MIRT871142	hsa-miR-4287	CLIP-seq
MIRT871143	hsa-miR-4292	CLIP-seq
MIRT871144	hsa-miR-4308	CLIP-seq
MIRT871147	hsa-miR-4469	CLIP-seq
MIRT871150	hsa-miR-4685-3p	CLIP-seq
MIRT871151	hsa-miR-4701-5p	CLIP-seq
MIRT2446499	hsa-miR-566	CLIP-seq
MIRT871156	hsa-miR-588	CLIP-seq
MIRT2498728	hsa-miR-1237	CLIP-seq
MIRT2498729	hsa-miR-1248	CLIP-seq
MIRT2195404	hsa-miR-1285	CLIP-seq
MIRT871138	hsa-miR-2277-3p	CLIP-seq
MIRT2195409	hsa-miR-3187-5p	CLIP-seq
MIRT2195410	hsa-miR-378g	CLIP-seq
MIRT2195413	hsa-miR-4448	CLIP-seq
MIRT2195414	hsa-miR-4486	CLIP-seq
MIRT2195415	hsa-miR-4660	CLIP-seq
MIRT2195418	hsa-miR-612	CLIP-seq

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001570	Process	Vasculogenesis	IMP	14740320
GO:0001701	Process	In utero embryonic development	IEA
GO:0001885	Process	Endothelial cell development	IEA
GO:0005515	Function	Protein binding	IPI	16037064, 17657516, 20489202, 23007647, 23266514, 25525273, 25814554, 25910212, 32296183
GO:0005737	Component	Cytoplasm	IDA	16037064
GO:0005739	Component	Mitochondrion	IDA
GO:0007229	Process	Integrin-mediated signaling pathway	TAS	16037064
GO:0032991	Component	Protein-containing complex	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0045216	Process	Cell-cell junction organization	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0048845	Process	Venous blood vessel morphogenesis	IEA
GO:0051403	Process	Stress-activated MAPK cascade	TAS	16037064
GO:0060039	Process	Pericardium development	IEA
GO:0060837	Process	Blood vessel endothelial cell differentiation	IEA
GO:0061154	Process	Endothelial tube morphogenesis	IMP	19151727

MIM	HGNC	e!Ensembl
607929	21708	ENSG00000136280

Protein

UniProt ID

Q9BSQ5

Protein name

Cerebral cavernous malformations 2 protein (Malcavernin)

Protein 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-MAP3K

PDB

4FQN , 4TVQ , 4WJ7 , 4Y5O , 4YKC , 4YKD , 4YL6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16545	CCM2_C	287 → 387	Cerebral cavernous malformation protein, harmonin-homology	Domain

Sequence

MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLS
DYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNV
KLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTAQDPGISPSQSLCAESSRGLSAG
SLSESAVGPVEACCLVILAAESKVAAEELCCLLGQVFQVVYTESTIDFLDRAIFDGASTP
THHLSLHSDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQ
DYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEK
DSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDE
WDRMISDISSDIEALGCSMDQDSA

Sequence length

444

Interactions

View interactions

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Evidence	Source
Unknown
Cerebral Cavernous Malformation	cerebral cavernous malformation 2		GenCC
Coronary artery disease	Coronary artery disease		GWAS
Myocardial Infarction	Myocardial Infarction		GWAS
Diabetes	Diabetes		GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.	GWAS, CBGDA

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	35431232
Carotid Artery Diseases	Associate	35370030
Cerebral Cavernous Malformations 2	Associate	28387648, 32186778
Cerebral Hemorrhage	Associate	35370030
Cerebral Palsy	Associate	27277535
Cognition Disorders	Associate	27277535
Corneal Endothelial Cell Loss	Associate	20181950
Coronary Artery Disease	Associate	38326615
Epilepsy	Associate	32702807
Familial cerebral cavernous malformation	Associate	22773461, 32702807, 36629374, 38420834
Hemangioma Cavernous Central Nervous System	Associate	11459890, 14740320, 15543491, 17160895, 19088123, 19182478, 19318350, 19760287, 20181950, 20862502, 21029238, 21543988, 23473272, 24058906, 24466005 View all (21 more)
Hemorrhage	Associate	33891857
Hemorrhagic Stroke	Associate	19318350, 25825518
Mouth Diseases	Associate	33891857
Neoplasms	Inhibit	19088123, 19755097
Neurologic Manifestations	Associate	25825518
Polycystic Kidney Diseases	Associate	35370030
Seizures	Associate	19318350, 25825518
Vascular Diseases	Associate	19318350, 25825518, 28181149

CCM2 (CCM2 scaffold protein)