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 non-motile cilium assembly and protein localization to ciliary transition zone. 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; and intellectual disability. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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

Human Disease	Fish	Conditions	Citations
Joubert syndrome	cc2d2a^w38/w38	standard conditions	Bachmann-Gagescu et al., 2011

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 InterPro	1647
UniProtKB:A0A2R8QEZ0 InterPro	1675

Transcripts

Genome Browsers

NCBI

No data available

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-cc2d2a	monoclonal	cc2d2a	IgG1	Mouse	IHC WB		9

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations