Skip to content
Use your HSA or FSA funds

Gene

CCM2

CCM2 scaffold protein

Summary

Cytogenetic location
7p13
Coordinates
Chromosome 7: 45,000,201–45,076,453 (GRCh38)
Exons
10 exons across 76.3 kb
Protein
444 amino acids
Inheritance
Autosomal dominant
Also known as
MGC4607, OSM
Previous symbols
C7orf22
MANE Select transcript
ENST00000258781.11NM_031443.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Cerebral Cavernous Malformation

    • Cerebral Cavernous Malformation 2Autosomal dominant

      Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How CCM2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where CCM2 sits. CCM2 and 12 genes near it on chromosome 7, from 44,538,327 to 45,538,326.Chromosome 77p13p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.344.6 Mb44.8 Mb45 Mb45.2 Mb45.4 MbNPC1L1: 44,512,442–44,541,330, reverse strandNPC1L1DDX56: 44,565,416–44,575,388, reverse strandDDX56TMED4: 44,576,392–44,582,309, reverse strandTMED4OGDH: 44,606,496–44,710,116, forward strandOGDHZMIZ2: 44,748,548–44,770,112, forward strandZMIZ2PPIA: 44,796,620–44,824,564, forward strandPPIAH2AZ2: 44,826,791–44,848,146, reverse strandH2AZ2PURB: 44,876,299–44,885,530, reverse strandPURBMYO1G: 44,962,662–44,979,813, reverse strandMYO1GCCM2: 45,000,201–45,076,453, forward strandCCM2NACAD: 45,080,437–45,089,021, reverse strandNACADFASTKD4: 45,097,497–45,112,048, reverse strandFASTKD4RAMP3: 45,157,648–45,208,133, forward strandRAMP3Diagram of CCM2: 10 exons on the forward strand of chromosome 7Exon 1: 4 known disease-causing sitesExon 2: 18 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 7 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 7: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 1: 45,000,201–45,000,363, 163 basesExon 2: 45,038,253–45,038,426, 174 basesExon 3: 45,063,918–45,064,001, 84 basesExon 4: 45,064,463–45,064,646, 184 basesExon 5: 45,068,443–45,068,579, 137 basesExon 6: 45,069,826–45,069,961, 136 basesExon 7: 45,072,726–45,072,783, 58 basesExon 8: 45,073,460–45,073,571, 112 basesExon 9: 45,074,270–45,074,408, 139 basesExon 10: 45,075,777–45,076,453, 677 bases12468105′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.9 kb of the gene's 76.3 kb; 1,335 of those bases code for the protein.

How a genome test reads CCM2

75

positions in CCM2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 76.3 kb of CCM2, introns included, not only the 1.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CCM2 gene: CCM2 scaffold protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/ccm2

Vancouver

Dante Labs. CCM2 gene: CCM2 scaffold protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ccm2

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test