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Ccdc50 Gene Detail
Summary
  • Symbol
    Ccdc50
  • Name
    coiled-coil domain containing 50
  • Synonyms
    2610529H08Rik, 5730448P06Rik, D16Bwg1543e
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914751
    NCBI Gene: 67501
  • Alliance
    genome feature page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:27207619-27270968 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 18.98 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1313 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914751
 protein coding gene Chr16:27205815-27270968 (+)
129S1/SvImJ ENSMUSG00200035509
 protein coding gene Chr16:24235906-24291448 (+)
A/J ENSMUSG00195029021
 protein coding gene Chr16:23773547-23836897 (+)
AKR/J ENSMUSG00220028778
 protein coding gene Chr16:24104867-24168222 (+)
BALB/cJ ENSMUSG00180029611
 protein coding gene Chr16:24003592-24066683 (+)
C3H/HeJ ENSMUSG00175037672
 protein coding gene Chr16:24156239-24211781 (+)
C57BL/6NJ ENSMUSG00215019399
 protein coding gene Chr16:23889560-23952905 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020634
 protein coding gene Chr16:24518522-24575071 (+)
CAST/EiJ ENSTCUG00005033509
 protein coding gene Chr16:24469456-24525120 (+)
CBA/J ENSMUSG00210036977
 protein coding gene Chr16:24178458-24233993 (+)
DBA/2J ENSMUSG00185019239
 protein coding gene Chr16:24117336-24172871 (+)
FVB/NJ ENSMUSG00205013247
 protein coding gene Chr16:24109483-24172834 (+)
JF1/MsJ ENSUMUG00000034451
 protein coding gene Chr16:24315229-24370926 (+)
LP/J ENSMUSG00230032456
 protein coding gene Chr16:26687350-26742884 (+)
NOD/ShiLtJ ENSMUSG00190024934
 protein coding gene Chr16:24290964-24354317 (+)
NZO/HlLtJ ENSMUSG00225036101
 protein coding gene Chr16:29932431-29987970 (+)
PWK/PhJ ENSLUMG00010030119
 protein coding gene Chr16:24127063-24182832 (+)
SPRET/EiJ ENSMSPG00010016203
 protein coding gene Chr16:24055572-24113100 (+)
WSB/EiJ ENSIUOG00005034010
 protein coding gene Chr16:24373553-24429063 (+)



Homology
more
  • Human Ortholog
    CCDC50, coiled-coil domain containing 50
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CCDC50, coiled-coil domain containing 50
  • Synonyms
    C3orf6, DFNA44, YMER
  • Links
    NCBI Gene ID: 152137
    UniProt: Q8IVM0

  • Chr Location
    3q28; chr3:191329085-191398659 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human CCDC50 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    13 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.
Homozygous null mice show decreased susceptibility to HSV-1 infection with increased serum levels of IFN-beta.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    9
  • GO References
    4
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
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
    751
  • Tissues
    43
  • cDNA Data
    171
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038127 Ensembl Gene Model | MGI Sequence Detail 63350 C57BL/6J ±  kb
    transcript ENSMUST00000239351 Ensembl | MGI Sequence Detail 1779 Not Applicable  
    polypeptide ENSMUSP00000159204 Ensembl | MGI Sequence Detail 480 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000005101 coiled-coil domain-containing protein 50
      (term hierarchy)
    • InterPro Domains
      IPR039303 Coiled-coil domain-containing protein 50
      IPR029311 Coiled-coil domain-containing protein 50, N-terminal
    Molecular
    Reagents
    less
    • All nucleic 187
      cDNA 172
      Primer pair 15
      Antibodies 2

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-35702, MGI:107237, MGI:1917850, MGI:2140546, MGI:2146653
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 5
      Gene Ontology 4
      Phenotypes 13
    • Earliest
      J:44483 Brady KP, et al., Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis. Genome Res. 1997 Nov;7(11):1085-93
    • 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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    09/01/2026
    MGI 6.24     		The Jackson Laboratory