ZFIN Gene: cc2d2a

ZFIN ID: ZDB-GENE-030131-2291

ZFIN ID: ZDB-GENE-030131-2291

Gene Name:

coiled-coil and C2 domain containing 2A

Gene Symbol:

cc2d2a Nomenclature History

Previous Names:

fc03c12, sentinel (1), wu:fc03c12

Gene Type:

protein_coding_gene

Location:

Chr: 23 Mapping Details/Browsers

Description:

Involved in photoreceptor cell outer segment organization. Localizes to 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 COACH syndrome; Joubert syndrome 9; Meckel syndrome 6; and intellectual disability. Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A).

Genome Resources:

Alliance (1), Gene:570250 (1), Ensembl(GRCz11):ENSDARG00000090971 (2)

GENE EXPRESSION
All Expression Data:	7 figures from 6 publications
Wild-type Stages, Structures:	Pharyngula:Prim-5 (24.0h-30.0h) to Larval:Day 5 (120.0h-144.0h, 3.9mm, 6 teeth)
	cerebellum ciliary transition zone ciliated olfactory receptor neuron ciliary transition zone eye photoreceptor cell photoreceptor connecting cilium floor plate ciliary transition zone neuromast hair cell ciliary transition zone pronephric duct ciliary transition zone whole organism
High Throughput Expression:	GEO (1) Expression Atlas (1)

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Allele	Type	Localization	Consequence	Mutagen	Suppliers
la022551Tg	Transgenic Insertion	Unknown	Unknown	DNA
la022556Tg	Transgenic Insertion	Unknown	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
la028505Tg	Transgenic Insertion	Unknown	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
sa10580	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa13219	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa16835	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa24244	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa29863	Point Mutation	Unknown	Splice Site	ENU
sa32422	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
w38	Point Mutation	Unknown	Premature Stop	ENU
w123	Point Mutation	Intron 20	Frameshift	ENU

PHENOTYPE

Data:

14 figures from 5 publications

Observed in:

DISEASE ASSOCIATED WITH cc2d2a HUMAN ORTHOLOG

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
COACH syndrome	Alliance	COACH syndrome	216360
Joubert syndrome 9	Alliance	Joubert syndrome 9	612285
Meckel syndrome 6	Alliance	Meckel syndrome 6	612284

DISEASE 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

Ontology	GO Term
Biological Process	photoreceptor cell outer segment organization (more)
Cellular Component	photoreceptor connecting cilium (more)

GO Terms (all 2)

PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available

TRANSCRIPTS No data available

INTERACTIONS AND PATHWAYS

ANTIBODIES

Name	Type	Isotype	Host Organism	Assay	Source	Publications
Ab1-cc2d2a	monoclonal	IgG1	Mouse	IHC, WB		8

PLASMIDS No data available

CONSTRUCTS WITH SEQUENCES FROM cc2d2a No data available

MARKER RELATIONSHIPS

cc2d2a Encodes:

[EST] fc03c12

SEQUENCE INFORMATION

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:XM_003201161 (1)		Select Tool ZFIN BLAST NCBI BLAST MegaBLAST Ensembl UCSC BLAT
Genomic	GenBank:CABZ01048674 (1)	78129 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:A0A2R8QEZ0 (1)	1675 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Sequence Information (all 18)

ORTHOLOGY for cc2d2a ( Chr: 23 )

CITATIONS (26)

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