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Ccdc40
Gene Detail
Symbol

Name
ID
Ccdc40
coiled-coil domain containing 40
MGI:2443893
Synonyms
B930008I02Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 11
83.35 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr11:119228572-119265238 bp, + strand
From VEGA annotation of GRCm38

  36667 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:27890  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

HCOP human homology predictions: CCDC40
Gene Tree: Ccdc40

Human
homologs
CCDC40, coiled-coil domain containing 40
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 55036
neXtProt AC: NX_Q4G0X9

Human Synonyms: CILD15, FAP172

Human Chr (Location): 17q25.3; chr17:80036632-80100613 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CCDC40

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Chemically induced (ENU)(1) Gene trapped(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for an ENU-induced allele exhibit heterotaxia, hydrocephalus, short embryonic cilia, and postnatal lethality.
 
Interactions
Ccdc40 interacts with 101 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process axonemal dynein complex assembly, cilium movement, ...
Component axoneme, cell projection, ...
Function molecular_function
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (61)    Tissues (6)    Images (21)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 61
cDNA source data(24)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100486955 ; ZFIN ccdc40    NEW 
Molecular
reagents
All nucleic(24) cDNA(24)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000004002 (Evidence)
Ensembl Gene Model ENSMUSG00000039963 (Evidence)
Entrez Gene 207607 (Evidence)
UniGene 189885
DFCI TC1596720, TC1592576, TC1584217
DoTS DT.110524877, DT.101370898, DT.101310980, DT.101138317, DT.40164895, DT.55164938
NIA Mouse Gene Index U013629
Consensus CDS Project CCDS25712.1
International Mouse Phenotyping Consortium Status Ccdc40
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000004002 VEGA Gene Model | MGI Sequence Detail 36667 C57BL/6J ±  kb
transcript OTTMUST00000008889 VEGA | MGI Sequence Detail 4979 Not Applicable 
polypeptide OTTMUSP00000004338 VEGA | MGI Sequence Detail 1192 Not Applicable 

For the selected sequences
All sequences(54) RefSeq(9) UniProt(2)
Polymorphisms
SNPs within 2kb(108 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013956 E3 ubiquitin ligase, BRE1
Protein Ontology PR:000031780 coiled-coil domain-containing protein 40
References
(Earliest) J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(26)

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
06/30/2015
MGI 5.22
The Jackson Laboratory