About   Help   FAQ
C2cd3
Gene Detail
Symbol

Name
ID
C2cd3
C2 calcium-dependent domain containing 3
MGI:2142166
Feature Type
protein coding gene
Genetic Map
Chromosome 7
54.35 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr7:100372233-100470152 bp, + strand
From VEGA annotation of GRCm38

  97920 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:19524  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: C2CD3
Gene Tree: C2cd3

Human
homologs
C2CD3, C2 calcium-dependent domain containing 3
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 26005
neXtProt AC: NX_Q4AC94

Human Synonyms: OFD14

Human Chr (Location): 11q13.4; chr11:74012714-74171210 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human C2CD3

Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Chemically induced (ENU)(1) Gene trapped(12) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes inactivating allele are embryonic lethal with pericardial edema and twisted body axis, abnormal patterning of brain and open neural tube defect.
 
Interactions
C2cd3 interacts with 371 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (30 annotations)
Process brain development, cell projection organization, ...
Component cell projection, centriolar satellite, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (10)    Tissues (5)    Tissue x Stage Matrix (view)
Assay TypeResults
RT-PCR 10
cDNA source data(132)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase c2cd3    NEW 
Molecular
reagents
All nucleic(133) cDNA(132) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000031837 (Evidence)
Ensembl Gene Model ENSMUSG00000047248 (Evidence)
Entrez Gene 277939 (Evidence)
UniGene 276374
DFCI TC1576452, TC1633517, TC1660512, TC1664278
NIA Mouse Gene Index U008452
Consensus CDS Project CCDS57568.1
International Mouse Phenotyping Consortium Status C2cd3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031837 VEGA Gene Model | MGI Sequence Detail 97920 C57BL/6J ±  kb
transcript OTTMUST00000078942 VEGA | MGI Sequence Detail 7803 Not Applicable 
polypeptide OTTMUSP00000042045 VEGA | MGI Sequence Detail 2323 Not Applicable 

For the selected sequences
All sequences(86) RefSeq(13) UniProt(9)
Polymorphisms
SNPs within 2kb(803 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000008 C2 domain
Protein Ontology PR:000029307 C2 domain-containing protein 3
References
(Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:213635 Thauvin-Robinet C, et al., The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nat Genet. 2014 Aug;46(8):905-11
All references(33)

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
08/25/2015
MGI 6.0
The Jackson Laboratory