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
Acts upstream of or within photoreceptor cell outer segment organization. Located in photoreceptor connecting cilium. Is expressed in central nervous system; pronephric duct; and receptor cell (sensu Animalia). Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; intellectual disability; and retinitis pigmentosa. 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
17 figures from 6 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
1 - 4 of 4
Associated With cc2d2a Via Experimental Models
1 - 1 of 1
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000008 C2 domain
Domain IPR028928 CC2D2A, N-terminal, C2 domain
Domain IPR041510 Domain of unknown function DUF5523
Family IPR052434 Tectonic-like complex component protein
Homologous_superfamily IPR035892 C2 domain superfamily
1 - 5 of 5
Domain Details Per Protein
Protein Length C2 domain C2 domain superfamily CC2D2A, N-terminal, C2 domain Domain of unknown function DUF5523 Tectonic-like complex component protein
UniProtKB:A0A8M3AV15 1657
UniProtKB:A0A8M3AY26 1671
UniProtKB:A0A8M3B5V4 1676
UniProtKB:A0A8M1RP95 1666
UniProtKB:A0A8M3ANC5 1671
1 - 5 of 5
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA cc2d2a-201 (1) Ensembl 10,045 nt
mRNA cc2d2a-202 (1) Ensembl 9,961 nt
1 - 2 of 2
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
1 - 1 of 1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations