About   Help   FAQ
Cc2d1a
Gene Detail
 Symbol
Name
ID
Cc2d1a
coiled-coil and C2 domain containing 1A
MGI:2384831
Synonyms Freud-1, MGC:27560, MGC:38983, Tape
Feature Type protein coding gene
Genetic Map
Chromosome 8
40.32 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr8:84132828-84147936 bp, - strand
From VEGA annotation of GRCm38

  15109 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:23040  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog

Gene Tree: Cc2d1a

Human
homologs
Human Homolog CC2D1A, coiled-coil and C2 domain containing 1A
NCBI Gene ID 54862
neXtProt AC  NX_Q6P1N0
Human Synonyms  FREUD-1, Freud-1/Aki1, MRT3
Human Chr (Location)  19p13.12; chr19:13906143-13930880 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human CC2D1A
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(4) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit partial neonatal lethality, reduced body weight, hunched posture, respiratory distress, increased sensitivity of neurons to hydrogen peroxide, reduced dendrite length, abnormal brian vasculature and reduced synaptic number and density.
 
Phenotype Images(2)
Interactions
Cc2d1a interacts with 86 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process negative regulation of transcription from RNA polymerase II promoter, positive regulation of I-kappaB kinase/NF-kappaB signaling, ...
Component cytoplasm, extracellular vesicular exosome, ...
Function DNA binding, RNA polymerase II core promoter proximal region sequence-specific DNA binding, ...
External Resources: FuncBase
Expression
cDNA source data(45)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(45) cDNA(45)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000030574 (Evidence)
Ensembl Gene ModelENSMUSG00000036686 (Evidence)
Entrez Gene212139 (Evidence)
UniGene41424
DoTSDT.101314973, DT.486359
NIA Mouse Gene IndexU030024
Consensus CDS ProjectCCDS40407.1
International Mouse Knockout Project StatusCc2d1a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030574 VEGA Gene Model | MGI Sequence Detail 15109 C57BL/6J ±  kb
transcript OTTMUST00000075711 VEGA | MGI Sequence Detail 3471 Not Applicable 
polypeptide OTTMUSP00000039748 VEGA | MGI Sequence Detail 943 Not Applicable 

For the selected sequences
All sequences(44) RefSeq(4) UniProt(3)
Polymorphisms SNPs within 2kb(130 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000008 C2 calcium-dependent membrane targeting
InterPro IPR006608 Domain of unknown function DM14
Protein Ontology PR:000005092 coiled-coil and C2 domain-containing protein 1A
References (Earliest) J:85162 Hansen J, et al., A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Proc Natl Acad Sci U S A. 2003 Aug 19;100(17):9918-22
(Latest) J:190401 Chen KR, et al., TBK1-associated protein in endolysosomes (TAPE)/CC2D1A is a key regulator linking RIG-I-like receptors to antiviral immunity. J Biol Chem. 2012 Sep 14;287(38):32216-21
All references(35)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/26/2014
MGI 5.19
The Jackson Laboratory