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 cattle; 1 dog

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; chr19:14016956-14041693 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human CC2D1A

Alleles and phenotypes

All alleles(10) : Targeted(6) Gene trapped(4)
 

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.

 

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	negative regulation of transcription from RNA polymerase II promoter, positive regulation of I-kappaB kinase/NF-kappaB cascade, ...
Component	cytoplasm, nucleus
Function	DNA binding, RNA polymerase II core promoter proximal region sequence-specific DNA binding, ...

External Resources: FuncBase

Expression

cDNA source data(44)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(44) cDNA(44)
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 Knockout Project Status	Cc2d1a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000030574	VEGA Gene Model | MGI Sequence Detail	15109	C57BL/6J
transcript	OTTMUST00000075711	VEGA | MGI Sequence Detail	3471	Not Applicable
polypeptide	OTTMUSP00000039748	VEGA | MGI Sequence Detail	943	Not Applicable

All sequences(42) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(105 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000008	C2 calcium-dependent membrane targeting
InterPro	IPR008973	C2 calcium/lipid-binding domain, CaLB
InterPro	IPR018029	C2 membrane targeting protein
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)