• Gene id: 83605

Gene Summary

• Gene Symbol: CCM2   Gene   UCSC   Ensembl
• Aliases: C7orf22, OSM, PP10187
• Gene name: CCM2 scaffold protein
• Alternate names: cerebral cavernous malformations 2 protein, CCM2 scaffolding protein, cerebral cavernous malformation 2, malcavernin, osmosensing scaffold for MEKK3,
• Gene location: 7p13 (44999745: 45076469)     Exons: 14     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 607718

Protein Summary

• Protein general information: Q9BSQ5  
  • Name: Cerebral cavernous malformations 2 protein (Malcavernin)
  • Length: 444  
  • Mass: 48837
• Sequence:

  MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLSDYIEKEVKYLGQLTS
  IPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNVKLAWRDGEDIILRVPIHDIAAVSYVRDDAA
  HLVVLKTAQDPGISPSQSLCAESSRGLSAGSLSESAVGPVEACCLVILAAESKVAAEELCCLLGQVFQVVYTEST
  IDFLDRAIFDGASTPTHHLSLHSDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQ
  DYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVK
  DGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDEWDRMISDISSDIEALGCSMDQDSA

• Structural information:
  • Protein Domains: (59..24-)
    (/note="PID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148"-)
  • Interpro: IPR032375  IPR026159  IPR006020  
  • Prosite: PS01179
  • CDD: cd13516
  • PDB: 4FQN 4TVQ 4WJ7 4Y5O 4YKC 4YKD 4YL6
  • PDBsum: 4FQN 4TVQ 4WJ7 4Y5O 4YKC 4YKD 4YL6
  • DIP: 40609
  • STRING: ENSP00000370503
• Other Databases: GeneCards:  CCM2  Malacards:  CCM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0061154	endothelial tube morphogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048839	inner ear development	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0001885	endothelial cell development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0060837	blood vessel endothelial cell differentiation	IEA	biological process
GO:0060039	pericardium development	IEA	biological process
GO:0048845	venous blood vessel morphogenesis	IEA	biological process
GO:0045216	cell-cell junction organization	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0001944	vasculature development	IEA	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0051403	stress-activated MAPK cascade	TAS	biological process
GO:0007229	integrin-mediated signaling pathway	TAS	biological process
GO:0001570	vasculogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cerebral cavernous malformation	KEGG:H00534
Cerebral cavernous malformation	KEGG:H00534
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881