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Ccdc93 Gene Detail
Summary
  • Symbol
    Ccdc93
  • Name
    coiled-coil domain containing 93
  • Synonyms
    4633402D15Rik, 9230102M16Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918079
    NCBI Gene: 70829
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:121358796-121434189 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 1, 52.97 cM, cytoband E2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2634 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1918079
protein coding gene Chr1:121358778-121434189 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016410
protein coding gene Chr1:124260420-124343156 (+)
A/J MGP_AJ_G0016393
protein coding gene Chr1:119799305-119876499 (+)
AKR/J MGP_AKRJ_G0016358
protein coding gene Chr1:123308127-123388520 (+)
BALB/cJ MGP_BALBcJ_G0016353
protein coding gene Chr1:120082974-120157078 (+)
C3H/HeJ MGP_C3HHeJ_G0016179
protein coding gene Chr1:123485080-123565848 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016814
protein coding gene Chr1:128996553-129075394 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014527
protein coding gene Chr1:113428988-113501810 (+)
CAST/EiJ MGP_CASTEiJ_G0015760
protein coding gene Chr1:122308916-122389844 (+)
CBA/J MGP_CBAJ_G0016152
protein coding gene Chr1:133451679-133536362 (+)
DBA/2J MGP_DBA2J_G0016258
protein coding gene Chr1:118821723-118896148 (+)
FVB/NJ MGP_FVBNJ_G0016257
protein coding gene Chr1:117586879-117662374 (+)
LP/J MGP_LPJ_G0016329
protein coding gene Chr1:125610800-125690198 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016282
protein coding gene Chr1:139143137-139223093 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016850
protein coding gene Chr1:123065491-123148896 (+)
PWK/PhJ MGP_PWKPhJ_G0015546
protein coding gene Chr1:117832574-117908550 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015334
protein coding gene Chr1:121987768-122064094 (+)
WSB/EiJ MGP_WSBEiJ_G0015822
protein coding gene Chr1:122948222-123024381 (+)



Homology
more
  • Human Ortholog
    CCDC93, coiled-coil domain containing 93
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CCDC93, coiled-coil domain containing 93
  • Links
    NCBI Gene ID: 54520
    neXtProt AC: NX_Q567U6
    UniProt: Q567U6

  • Chr Location
    2q14.1; chr2:117915478-118014133 (-)  GRCh38

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 1 allele in 1 genetic background
    1 images
    12 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 a knock-out allele show decreased embryo size, embryonic growth retardation, disorganized extraembryonic tissue, failure of primitive streak formation and gastrulation, increased cell death, and complete embryonic lethality by E9.5.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 70829 NCBI Gene Model | MGI Sequence Detail 75394 C57BL/6J ±  kb
    transcript NM_001025156 RefSeq | MGI Sequence Detail 7272 C57BL/6  
    polypeptide Q7TQK5 UniProt | EBI | MGI Sequence Detail 629 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 90
      cDNA 90

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1924929
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 1
      Gene Ontology 6
      Phenotypes 12
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:354232 Kumar N, et al., Genetic variation in CCDC93 is associated with elevated central systolic blood pressure, impaired arterial relaxation, and mitochondrial dysfunction. PLoS Genet. 2024 Sep;20(9):e1011151

    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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    last database update
    12/10/2024
    MGI 6.24
    The Jackson Laboratory