Gene

cc2d2a

ID
ZDB-GENE-030131-2291
Name
coiled-coil and C2 domain containing 2A
Symbol
cc2d2a Nomenclature History
Previous Names
  • fc03c12
  • sentinel (1)
  • wu:fc03c12
Type
protein_coding_gene
Location
Chr: 23 Mapping Details/Browsers
Description
Involved in photoreceptor cell outer segment organization. Localizes to photoreceptor connecting cilium. Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in COACH syndrome; Joubert syndrome 9; Meckel syndrome 6; and intellectual disability. Is expressed in central nervous system; pronephric duct; and receptor cell (sensu Animalia). Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
14 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cc2d2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Joubert syndrome 9 Alliance Joubert syndrome 9 612285
Meckel syndrome 6 Alliance Meckel syndrome 6 612284
COACH syndrome 2 619111
Retinitis pigmentosa 93 619845
Associated With cc2d2a Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000008 C2 domain
Domain IPR028928 CC2D2A, N-terminal, C2 domain
Homologous_superfamily IPR035892 C2 domain superfamily
Domain Details Per Protein
Protein Length C2 domain C2 domain superfamily CC2D2A, N-terminal, C2 domain
UniProtKB:E7F3T4 1647
UniProtKB:A0A2R8QEZ0 1675
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-cc2d2a monoclonal IgG1 Mouse
  • IHC
  • WB
9
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations