Seroatlas · Human Serome Atlas

CCM2

Cerebral cavernous malformations 2 protein

Also known as: C7orf22, CCM2_HUMAN, MGC4607, OSM

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9BSQ5
Gene
CCM2
Ensembl
ENSG00000136280
Chromosome
7
Canonical length
444 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Mitochondria

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

444 residues, UniProt reviewed canonical sequence.

>Q9BSQ5|CCM2
     1  MEEEGKKGKK PGIVSPFKRV FLKGEKSRDK KAHEKVTERR PLHTVVLSLP ERVEPDRLLS
    61  DYIEKEVKYL GQLTSIPGYL NPSSRTEILH FIDNAKRAHQ LPGHLTQEHD AVLSLSAYNV
   121  KLAWRDGEDI ILRVPIHDIA AVSYVRDDAA HLVVLKTAQD PGISPSQSLC AESSRGLSAG
   181  SLSESAVGPV EACCLVILAA ESKVAAEELC CLLGQVFQVV YTESTIDFLD RAIFDGASTP
   241  THHLSLHSDD SSTKVDIKET YEVEASTFCF PESVDVGGAS PHSKTISESE LSASATELLQ
   301  DYMLTLRTKL SSQEIQQFAA LLHEYRNGAS IHEFCINLRQ LYGDSRKFLL LGLRPFIPEK
   361  DSQHFENFLE TIGVKDGRGI ITDSFGRHRR ALSTTSSSTT NGNRATGSSD DRSAPSEGDE
   421  WDRMISDISS DIEALGCSMD QDSA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCM2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.45
Highest tissue expression
135 nTPM

Expression across tissuesHPA

Tissue

  • basal ganglia: 135 nTPM
  • cerebral cortex: 119 nTPM
  • amygdala: 96 nTPM
  • hippocampal formation: 89 nTPM
  • liver: 86 nTPM
  • midbrain: 80 nTPM

Single-cell type

  • neutrophils: 278 nCPM
  • hematopoietic stem cells: 210 nCPM
  • nk-cells: 189 nCPM
  • microglia: 186 nCPM
  • t-cells: 177 nCPM
  • b-cells: 149 nCPM

Immune cell

  • T-reg: 168 nTPM
  • basophil: 109 nTPM
  • eosinophil: 106 nTPM
  • neutrophil: 104 nTPM
  • memory CD4 T-cell: 63 nTPM
  • NK-cell: 61 nTPM

Brain region

  • basal ganglia: 79 nTPM
  • cerebral cortex: 76 nTPM
  • thalamus: 73 nTPM
  • pons: 70 nTPM
  • medulla oblongata: 66 nTPM
  • white matter: 65 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCM2.

Disease | AllUniProt

Conditions CCM2 is implicated in, by any mechanism.

  • Cerebral cavernous malformations 2 (CCM2) MIM:603284

Disease | GeneticClinVar

116 pathogenic / likely-pathogenic of 444 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.66
gnomAD pLI
0.01
gnomAD missense Z
0.52
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CCM2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CCM2 as an antibody target. Whether an autoantibody or antibody against CCM2 could matter depends on whether native CCM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CCM2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CCM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CCM2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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