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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 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 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; chr4:15469865-15601971 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human CC2D2A
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Chemically induced (ENU)(2) Gene trapped(1) Radiation induced(1) Targeted(5)
Genomic Mutations involving Cc2d2a (2)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a gene trap allele exhibit randomized body axis, holoprosencephaly, and microphthalmia. Mice homozygous for an ENU-induced allele display heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate.
 
Alleles Annotated to Human Diseases(2)    Phenotype Images(21)
Interactions
Cc2d2a interacts with 63 markers (Mir1b, Mir7-1, Mir7-2, ...)
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(6)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(6) cDNA(6)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000018224 (Evidence)
Ensembl Gene ModelENSMUSG00000039765 (Evidence)
Entrez Gene231214 (Evidence)
DFCITC1580631, TC1601961, TC1623494
DoTSDT.101259532, DT.110655446, DT.91360941, DT.99843886
NIA Mouse Gene IndexU005544
Consensus CDS ProjectCCDS39080.1
International Mouse Knockout Project StatusCc2d2a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018224 VEGA Gene Model | MGI Sequence Detail 78594 C57BL/6J ±  kb
transcript OTTMUST00000044029 VEGA | MGI Sequence Detail 5451 Not Applicable 
polypeptide OTTMUSP00000019776 VEGA | MGI Sequence Detail 1633 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(14) UniProt(3)
Polymorphisms SNPs within 2kb(555 from dbSNP Build 137)    SNPs within 2kb including multiple locations(561)
Protein-related
information
ResourceIDDescription
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(30)
Other
accession IDs
MGI:5311347

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory