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
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within cilium assembly; determination of intestine left/right asymmetry; and heart jogging. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in nucleus. Is expressed in central canal; hatching gland; heart; and pronephric duct. Used to study ciliopathy and visceral heterotaxy. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 3 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
1 - 1 of 1
Associated With cc2d1a Via Experimental Models
Human Disease Fish Conditions Citations
visceral heterotaxy WT + TALEN1-cc2d1a standard conditions Ma et al., 2020
visceral heterotaxy cc2d1aphk1/+ standard conditions Ma et al., 2020
ciliopathy WT + TALEN1-cc2d1a standard conditions Ma et al., 2020
ciliopathy cc2d1aphk1/+ standard conditions Ma et al., 2020
1 - 4 of 4
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
1 - 5 of 5
Domain Details Per Protein
Protein Additional Resources 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 InterPro 1012
UniProtKB:E7FAN0 InterPro 1000
1 - 2 of 2
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
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