Gene

ccm2

ID
ZDB-GENE-040712-6
Name
CCM2 scaffold protein
Symbol
ccm2 Nomenclature History
Previous Names
  • MGC4607-like (1)
  • si:dkeyp-86f6.1
  • TUF2 (1)
  • valentine (1)
  • vtn
  • zgc:110233
Type
protein_coding_gene
Location
Chr: 20 Mapping Details/Browsers
Description
Acts upstream of or within several processes, including cell-cell junction assembly; circulatory system development; and heart contraction. Predicted to be located in cytoplasm. Is expressed in several structures, including cardinal system; heart; intermediate cell mass of mesoderm; liver; and ventricular zone. Human ortholog(s) of this gene implicated in cerebral cavernous malformation 2. Orthologous to human CCM2 (CCM2 scaffold protein).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
28 figures from 17 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ccm2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
cerebral cavernous malformation 2 Alliance Cerebral cavernous malformations-2 603284
Associated With ccm2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR006020 PTB/PI domain
Domain IPR032375 Cerebral cavernous malformations 2, harmonin-homology domain
Family IPR026159 Cerebral cavernous malformations 2
Domain Details Per Protein
Protein Length Cerebral cavernous malformations 2 Cerebral cavernous malformations 2, harmonin-homology domain PTB/PI domain
UniProtKB:B5DDE0 361
UniProtKB:Q6DRP4 455
UniProtKB:A0A2R8QKS3 449
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations