About   Help   FAQ
Take the Alliance for Genomic Resources User Survey
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
  • Gene Overview
    MyGene.info: CCDC50
Location & Maps
more
  • Sequence Map
    Chr16:27388869-27452218 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      63350 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 18.98 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    CCDC50, coiled-coil domain containing 50
  • Vertebrate Orthologs
    5
  • Human Ortholog
    CCDC50, coiled-coil domain containing 50
    Orthology source: HGNC
  • Synonyms
    C3orf6, DFNA44, YMER
  • Links
    NCBI Gene ID: 152137
    neXtProt AC: NX_Q8IVM0

  • Chr Location
    3q28; chr3:191329082-191398670 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with human CCDC50 associations

Human Disease Mouse Models
       Deafness, Autosomal Dominant 44; DFNA44   OMIM: 607453
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotype references
  • All Mutations and Alleles
    8
  • Gene trapped
    5
  • Targeted
    3
  • Incidental Mutations
    Mutagenetix , APF
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    3
  • GO References
    1
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
    125
  • Tissues
    35
  • cDNA Data
    169
  • Literature Summary
    3
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023490 VEGA Gene Model | MGI Sequence Detail 63350 C57BL/6J ±  kb
transcript OTTMUST00000057171 VEGA | MGI Sequence Detail 7089 Not Applicable  
polypeptide OTTMUSP00000027556 VEGA | MGI Sequence Detail 305 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    334 from dbSNP Build 142
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000005101 coiled-coil domain-containing protein 50
  • InterPro Domains
    IPR029311 Coiled-coil domain-containing protein 50, N-terminal
Molecular
Reagents
less
  • All nucleic 183
    cDNA 170
    Primer pair 13

    Microarray probesets 9
Other
Accession IDs
less
MGD-MRK-35702, MGI:107237, MGI:1917850, MGI:2140546, MGI:2146653
References
more
  • Summaries
    All 34
    Developmental Gene Expression 3
    Gene Ontology 1
    Phenotypes 7
  • 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:130365 Singh S, et al., Transcriptional profiling of the megabladder mouse: a unique model of bladder dysmorphogenesis. Dev Dyn. 2008 Jan;237(1):170-86
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
09/13/2016
MGI 6.05 		The Jackson Laboratory