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Ccdc40 Gene Detail
Summary
  • Symbol
    Ccdc40
  • Name
    coiled-coil domain containing 40
  • Synonyms
    B930008I02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443893
    NCBI Gene: 207607
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:119119398-119156064 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 83.35 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1120 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443893
 protein coding gene Chr11:119119328-119156074 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019476
 protein coding gene Chr11:123591913-123633788 (+)
A/J MGP_AJ_G0019444
 protein coding gene Chr11:118126160-118162854 (+)
AKR/J MGP_AKRJ_G0019414
 protein coding gene Chr11:121687556-121724119 (+)
BALB/cJ MGP_BALBcJ_G0019419
 protein coding gene Chr11:118486230-118523656 (+)
C3H/HeJ MGP_C3HHeJ_G0019225
 protein coding gene Chr11:122001944-122038449 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019868
 protein coding gene Chr11:127355290-127409426 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017493
 protein coding gene Chr11:115123862-115161380 (+)
CAST/EiJ MGP_CASTEiJ_G0018779
 protein coding gene Chr11:123453786-123494738 (+)
CBA/J MGP_CBAJ_G0019196
 protein coding gene Chr11:132303131-132346145 (+)
DBA/2J MGP_DBA2J_G0019308
 protein coding gene Chr11:117501622-117538880 (+)
FVB/NJ MGP_FVBNJ_G0019300
 protein coding gene Chr11:117167347-117206552 (+)
LP/J MGP_LPJ_G0019378
 protein coding gene Chr11:123910191-123948906 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019333
 protein coding gene Chr11:131256340-131298256 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019907
 protein coding gene Chr11:122358816-122396937 (+)
PWK/PhJ MGP_PWKPhJ_G0018545
 protein coding gene Chr11:118906372-118944923 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018337
 protein coding gene Chr11:122107061-122150438 (+)
WSB/EiJ MGP_WSBEiJ_G0018831
 protein coding gene Chr11:122325581-122364923 (+)



Homology
more
  • Human Ortholog
    CCDC40, coiled-coil domain 40 molecular ruler complex subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CCDC40, coiled-coil domain 40 molecular ruler complex subunit
  • Synonyms
    CFAP172, CILD15, FAP172
  • Links
    NCBI Gene ID: 55036
    neXtProt AC: NX_Q4G0X9
    UniProt: Q4G0X9

  • Chr Location
    17q25.3; chr17:80036632-80100613 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CCDC40 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 2 alleles in 2 genetic backgrounds
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for an ENU-induced allele exhibit heterotaxia, hydrocephalus, short embryonic cilia, and postnatal lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    7
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    777
  • Tissues
    11
  • cDNA Data
    23
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039963 Ensembl Gene Model | MGI Sequence Detail 36667 C57BL/6J ±  kb
    transcript ENSMUST00000236813 Ensembl | MGI Sequence Detail 4769 Not Applicable  
    polypeptide ENSMUSP00000158069 Ensembl | MGI Sequence Detail 1262 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000031780 coiled-coil domain-containing protein 40
      (term hierarchy)
    • InterPro Domains
      IPR037386 Coiled-coil domain-containing protein 40
    • GlyGen
      Q8BI79 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 25

      Microarray probesets 2
    References
    more
    • Summaries
      All 32
      Developmental Gene Expression 3
      Gene Ontology 7
      Phenotypes 11
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/19/2024
    MGI 6.24     		The Jackson Laboratory