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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

HCOP human homology predictions: CC2D1A
Gene Tree: Cc2d1a

Human
homologs
CC2D1A, coiled-coil and C2 domain containing 1A
Orthology source: HGNC, HomoloGene

IDs:
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.p2

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 , CvDC )
 
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 85 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Expression
Literature Summary: (1 records)
Data Summary: Results (11)    Tissues (11)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 11
cDNA source data(47)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cc2d1a    NEW 
Molecular
reagents
All nucleic(47) cDNA(47)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000030574 (Evidence)
Ensembl Gene Model ENSMUSG00000036686 (Evidence)
Entrez Gene 212139 (Evidence)
UniGene 41424
DoTS DT.101314973, DT.486359
NIA Mouse Gene Index U030024
Consensus CDS Project CCDS40407.1
International Mouse Phenotyping Consortium Status Cc2d1a
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(45) 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(36)

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
08/18/2015
MGI 6.0
The Jackson Laboratory