Gene

cc2d1a

ID
ZDB-GENE-110908-1
Name
coiled-coil and C2 domain containing 1A
Symbol
cc2d1a Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 1 Mapping Details/Browsers
Description
Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability and intellectual disability. Orthologous to human CC2D1A (coiled-coil and C2 domain containing 1A).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Ma et al., 2020
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from Ma et al., 2020
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cc2d1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive intellectual developmental disorder 3 Alliance Intellectual developmental disorder, autosomal recessive 3 608443
Associated With cc2d1a Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000008 C2 domain
Domain IPR006608 Coiled-coil and C2 domain-containing protein 1, DM14 domain
Domain IPR037772 Freud, C2 domain
Family IPR039725 Coiled-coil and C2 domain-containing protein 1
Homologous_superfamily IPR035892 C2 domain superfamily
Domain Details Per Protein
Protein Length C2 domain C2 domain superfamily Coiled-coil and C2 domain-containing protein 1 Coiled-coil and C2 domain-containing protein 1, DM14 domain Freud, C2 domain
UniProtKB:A0A8M1Q7L9 1012
UniProtKB:E7FAN0 1000
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations