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Gene: CCM2 (CCM2 scaffold protein) Homo sapiens
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Symbol: CCM2
Name: CCM2 scaffold protein
Description: Involved in endothelial tube morphogenesis and vasculogenesis. Localizes to the mitochondrion. Implicated in cerebral cavernous malformation 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C7orf22; cerebral cavernous malformation 2; cerebral cavernous malformations 2 protein; malcavernin; MGC4067; MGC4607; MGC74868; OSM; osmosensing scaffold for MEKK3; PP10187
Orthologs:
Mus musculus (house mouse) : Ccm2 (cerebral cavernous malformation 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ccm2 (CCM2 scaffold protein)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ccm2 (CCM2 scaffold protein)
Pan paniscus (bonobo/pygmy chimpanzee) : CCM2 (CCM2 scaffold protein)
Canis lupus familiaris (dog) : CCM2 (CCM2 scaffold protein)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ccm2 (CCM2 scaffold protein)
Sus scrofa (pig) : CCM2 (CCM2 scaffold protein)
Chlorocebus sabaeus (African green monkey) : CCM2 (CCM2 scaffold protein)
Heterocephalus glaber (naked mole-rat) : Ccm2 (CCM2 scaffold protein)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl744,999,475 - 45,076,469 (+)EnsemblGRCh38hg38GRCh38
GRCh38744,999,746 - 45,076,470 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37745,039,345 - 45,116,069 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36745,006,312 - 45,082,594 (+)NCBINCBI36hg18NCBI36
Build 34744,813,091 - 44,889,290NCBI
Celera745,138,311 - 45,215,025 (+)NCBI
Cytogenetic Map7p13NCBI
HuRef744,925,168 - 45,000,206 (+)NCBIHuRef
CHM1_1745,071,187 - 45,120,010 (+)NCBICHM1_1
CRA_TCAGchr7v2745,078,823 - 45,155,546 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CCM2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1317623
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.