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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
    gene 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
    334 from dbSNP Build 142
  • Strain Annotations
    18
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 MGP_129S1SvImJ_G0022700
 protein coding gene Chr16:25162773-25221236 (+)
A/J MGP_AJ_G0022663
 protein coding gene Chr16:23976810-24032602 (+)
AKR/J MGP_AKRJ_G0022637
 protein coding gene Chr16:24937265-24994602 (+)
BALB/cJ MGP_BALBcJ_G0022667
 protein coding gene Chr16:24177196-24232673 (+)
C3H/HeJ MGP_C3HHeJ_G0022432
 protein coding gene Chr16:25050068-25106882 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023116
 protein coding gene Chr16:25693709-25755089 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020634
 protein coding gene Chr16:24518522-24575071 (+)
CAST/EiJ MGP_CASTEiJ_G0021960
 protein coding gene Chr16:25087863-25149570 (+)
CBA/J MGP_CBAJ_G0022402
 protein coding gene Chr16:26822096-26877610 (+)
DBA/2J MGP_DBA2J_G0022535
 protein coding gene Chr16:23917951-23976519 (+)
FVB/NJ MGP_FVBNJ_G0022510
 protein coding gene Chr16:23896896-23954117 (+)
LP/J MGP_LPJ_G0022602
 protein coding gene Chr16:24938092-24995462 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022529
 protein coding gene Chr16:26297682-26369247 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023128
 protein coding gene Chr16:24898214-24954255 (+)
PWK/PhJ MGP_PWKPhJ_G0021699
 protein coding gene Chr16:24187816-24245494 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021530
 protein coding gene Chr16:24628870-24691870 (+)
WSB/EiJ MGP_WSBEiJ_G0022004
 protein coding gene Chr16:24836604-24892921 (+)



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
    neXtProt AC: NX_Q8IVM0
    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
    3 phenotypes from 1 allele in 1 genetic background
    10 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    7
  • GO References
    3
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
non-membrane-bounded 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
    860
  • 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

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-35702, MGI:107237, MGI:1917850, MGI:2140546, MGI:2146653
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 5
      Gene Ontology 3
      Phenotypes 10
    • 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:339033 Lachgar-Ruiz M, et al., Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants. Dis Model Mech. 2023 Aug 1;16(8):dmm049757
    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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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory