Cc2d2a
Gene Detail

Symbol Name ID

Cc2d2a coiled-coil and C2 domain containing 2A MGI:1924487

Synonyms

5730509K17Rik, b2b1035Clo

Feature Type

protein coding gene

Genetic Map

Chromosome 5

23.78 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr5:43662379-43740972 bp, + strand From VEGA annotation of GRCm38   78594 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:18159  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Cc2d2a

Human homologs

Human Homolog		CC2D2A, coiled-coil and C2 domain containing 2A
NCBI Gene ID		57545
neXtProt AC		NX_Q9P2K1
Human Synonyms		JBTS9, MKS6
Human Chr (Location)		4p15.32; chr4:15471489-15603180 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human CC2D2A

Alleles and phenotypes

All alleles(7) : Targeted(5) Gene trapped(1) Chemically induced(1)
 

Mice homozygous for a gene trap allele exhibit randomized body axis, holoprosencephaly, and microphthalmia. Mice homozygous for an ENU-induced allele also show congenital heart defects, polydactyly, kidney defects and cleft palate.

 
Phenotype Images(21)

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	cell projection organization, cilium assembly, ...
Component	cell projection, ciliary transition zone, ...
Function	protein binding

External Resources: FuncBase

Expression

cDNA source data(48)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(48) cDNA(48)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000018224 (Evidence)
Ensembl Gene Model	ENSMUSG00000039765 (Evidence)
Entrez Gene	231214 (Evidence)
UniGene	44434
DFCI	TC1580631, TC1601961, TC1623494
DoTS	DT.101259532, DT.110655446, DT.91360941, DT.99843886
NIA Mouse Gene Index	U005544
Consensus CDS Project	CCDS39080.1
International Mouse Knockout Project Status	Cc2d2a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000018224	VEGA Gene Model | MGI Sequence Detail	78594	C57BL/6J
transcript	OTTMUST00000044029	VEGA | MGI Sequence Detail	5451	Not Applicable
polypeptide	OTTMUSP00000019776	VEGA | MGI Sequence Detail	1633	Not Applicable

All sequences(41) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(476 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000008	C2 calcium-dependent membrane targeting
Protein Ontology	PR:000005093	coiled-coil and C2 domain-containing protein 2A

References

(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:178978 Chih B, et al., A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol. 2011;14(1):61-72
All references(31)

Other accession IDs

MGI:5311347