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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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

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
Domain	IPR041510	Domain of unknown function DUF5523
Family	IPR052434	Tectonic-like complex component protein
Homologous_superfamily	IPR035892	C2 domain superfamily

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 InterPro	1657
UniProtKB:A0A8M3AY26 InterPro	1671
UniProtKB:A0A8M3B5V4 InterPro	1676
UniProtKB:A0A8M1RP95 InterPro	1666
UniProtKB:A0A8M3ANC5 InterPro	1671

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	cc2d2a-201 (1) Ensembl	Ensembl		10,045 nt	Select Tool ZFIN BLAST
mRNA	cc2d2a-202 (1) Ensembl	Ensembl		9,961 nt	Select Tool ZFIN BLAST

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