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Aliases for CCDC50 Gene

Aliases for CCDC50 Gene

  • Coiled-Coil Domain Containing 50 2 3
  • Protein Ymer 3 4
  • C3orf6 3 4
  • Deafness, Autosomal Dominant 44 2
  • DFNA44 3
  • YMER 3

External Ids for CCDC50 Gene

Previous HGNC Symbols for CCDC50 Gene

  • C3orf6
  • DFNA44

Previous GeneCards Identifiers for CCDC50 Gene

  • GC03P192530
  • GC03P191046
  • GC03P188446

Summaries for CCDC50 Gene

Entrez Gene Summary for CCDC50 Gene

  • This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

GeneCards Summary for CCDC50 Gene

CCDC50 (Coiled-Coil Domain Containing 50) is a Protein Coding gene. Diseases associated with CCDC50 include deafness, autosomal dominant 44 and dfna44 nonsyndromic hearing loss and deafness. GO annotations related to this gene include ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot for CCDC50 Gene

  • Involved in EGFR signaling.

Gene Wiki entry for CCDC50 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC50 Gene

Genomics for CCDC50 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CCDC50 Gene

191,329,077 bp from pter
191,398,670 bp from pter
69,594 bases
Plus strand

Genomic View for CCDC50 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCDC50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC50 Gene

Proteins for CCDC50 Gene

  • Protein details for CCDC50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 50
    Protein Accession:
    Secondary Accessions:
    • Q86VH7

    Protein attributes for CCDC50 Gene

    306 amino acids
    Molecular mass:
    35822 Da
    Quaternary structure:
    • Interacts with RNF126.
    • Found in a critical region of hereditary spastic paraplegia (HSP) SPG14 locus. No causative CCDC50 mutations were found in HSP families

    Alternative splice isoforms for CCDC50 Gene


neXtProt entry for CCDC50 Gene

Proteomics data for CCDC50 Gene at MOPED

Post-translational modifications for CCDC50 Gene

  • Phosphorylated on tyrosine residues.
  • Ubiquitination at Lys 119, Lys 129, Lys 152, Lys 157, Lys 181, and Lys 232

Other Protein References for CCDC50 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CCDC50 Gene

Domains & Families for CCDC50 Gene

Protein Domains for CCDC50 Gene


Suggested Antigen Peptide Sequences for CCDC50 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC50: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC50 Gene

Function for CCDC50 Gene

Molecular function for CCDC50 Gene

UniProtKB/Swiss-Prot Function:
Involved in EGFR signaling.

Gene Ontology (GO) - Molecular Function for CCDC50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18029035
GO:0031625 ubiquitin protein ligase binding IPI 23418353
genes like me logo Genes that share ontologies with CCDC50: view

Phenotypes for CCDC50 Gene

GenomeRNAi human phenotypes for CCDC50:
genes like me logo Genes that share phenotypes with CCDC50: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CCDC50

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC50 Gene

Localization for CCDC50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC50 Gene

Cytoplasm. Note=Associated with microtubules of the cytoskeleton and mitotic apparatus. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for CCDC50 Gene COMPARTMENTS Subcellular localization image for CCDC50 gene
Compartment Confidence
cytosol 2

Gene Ontology (GO) - Cellular Components for CCDC50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with CCDC50: view

Pathways & Interactions for CCDC50 Gene

SuperPathways for CCDC50 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC50 Gene


No data available for Pathways by source and SIGNOR curated interactions for CCDC50 Gene

Drugs & Compounds for CCDC50 Gene

No Compound Related Data Available

Transcripts for CCDC50 Gene

Unigene Clusters for CCDC50 Gene

Coiled-coil domain containing 50:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CCDC50

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC50 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP2: -

Relevant External Links for CCDC50 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CCDC50 Gene

mRNA expression in normal human tissues for CCDC50 Gene

Protein differential expression in normal tissues from HIPED for CCDC50 Gene

This gene is overexpressed in Heart (12.2), Breast (10.6), Lymph node (7.2), and Fetal Brain (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CCDC50 Gene

SOURCE GeneReport for Unigene cluster for CCDC50 Gene Hs.478682

mRNA Expression by UniProt/SwissProt for CCDC50 Gene

Tissue specificity: Isoform 1 and isoform 2 are coexpressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart.
genes like me logo Genes that share expression patterns with CCDC50: view

Protein tissue co-expression partners for CCDC50 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CCDC50 Gene

Orthologs for CCDC50 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC50 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia CCDC50 35
  • 88.84 (n)
  • 83.16 (a)
CCDC50 36
  • 83 (a)
(Pan troglodytes)
Mammalia CCDC50 35
  • 99.24 (n)
  • 98.76 (a)
CCDC50 36
  • 99 (a)
(Mus musculus)
Mammalia Ccdc50 16
Ccdc50 36
  • 84 (a)
(Bos Taurus)
Mammalia CCDC50 36
  • 91 (a)
(Monodelphis domestica)
Mammalia CCDC50 36
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia CCDC50 36
  • 74 (a)
(Gallus gallus)
Aves CCDC50 35
  • 67.8 (n)
  • 64.4 (a)
CCDC50 36
  • 66 (a)
(Anolis carolinensis)
Reptilia CCDC50 36
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17651 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14896 35
(Danio rerio)
Actinopterygii AL929204.1 36
  • 27 (a)
CCDC50 (1 of 4) 36
  • 17 (a)
CCDC50 (2 of 4) 36
  • 24 (a)
CCDC50 (4 of 4) 36
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 14 (a)
Species with no ortholog for CCDC50:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC50 Gene

Gene Tree for CCDC50 (if available)
Gene Tree for CCDC50 (if available)

Paralogs for CCDC50 Gene

No data available for Paralogs for CCDC50 Gene

Variants for CCDC50 Gene

Sequence variations from dbSNP and Humsavar for CCDC50 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs6953 -- 191,398,344(-) ACACA(A/G)ACTTA utr-variant-3-prime
rs150504 -- 191,392,755(-) AACTC(A/C)AAAAA utr-variant-3-prime
rs159488 -- 191,350,623(-) TCCCA(A/G)TGCTT intron-variant
rs167148 -- 191,378,976(-) AAGCC(C/T)ACCTT intron-variant
rs167151 -- 191,395,450(-) GACAT(A/C)AAAAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CCDC50 Gene

Variant ID Type Subtype PubMed ID
dgv1544e1 CNV Complex 17122850
nsv878101 CNV Loss 21882294
nsv428428 CNV Gain 18775914
nsv4169 CNV Loss 18451855
nsv10370 CNV Loss 18304495
esv271516 CNV Insertion 20981092
dgv632n27 CNV Loss 19166990
nsv461056 CNV Gain 19166990
nsv878105 CNV Loss 21882294
nsv516440 CNV Gain+Loss 19592680
dgv79n17 CNV Loss 16327808
nsv508266 CNV Loss 20534489
nsv10371 CNV Gain+Loss 18304495
nsv878106 CNV Loss 21882294
nsv435761 CNV Deletion 17901297
dgv114e180 CNV Gain 20482838
nsv821209 CNV Deletion 20802225
nsv819154 CNV Gain 19587683
dgv903e199 CNV Deletion 23128226
esv2726395 CNV Deletion 23290073
esv24246 CNV Gain 19812545
dgv633n27 CNV Loss 19166990
nsv818199 CNV Loss 17921354
nsv461060 CNV Loss 19166990
dgv634n27 CNV Loss 19166990
esv2421497 CNV Deletion 20811451
nsv818201 CNV Loss 17921354
nsv514193 CNV Loss 21397061
nsv818202 CNV Gain+Loss 17921354
nsv818203 CNV Loss 17921354
nsv437905 CNV Loss 16468122
nsv818204 CNV Loss 17921354
nsv878107 CNV Loss 21882294
nsv10373 CNV Gain 18304495
nsv822381 CNV Loss 20364138
esv1000145 CNV Insertion 20482838
esv1041065 CNV Insertion 17803354

Variation tolerance for CCDC50 Gene

Residual Variation Intolerance Score: 63.09% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.51; 55.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC50 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC50 Gene

Disorders for CCDC50 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CCDC50 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 44
  • deafness, autosomal dominant, 44
dfna44 nonsyndromic hearing loss and deafness
  • dfna 44 nonsyndromic hearing loss and deafness
autosomal dominant nonsyndromic deafness
  • autosomal dominant deafness
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
- elite association


  • Deafness, autosomal dominant, 44 (DFNA44) [MIM:607453]: A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. {ECO:0000269 PubMed:17503326}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CCDC50

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CCDC50: view

No data available for Genatlas for CCDC50 Gene

Publications for CCDC50 Gene

  1. A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. (PMID: 17503326) Modamio-Hoeybjoer S. … Moreno-Pelayo M.A. (Am. J. Hum. Genet. 2007) 2 67
  2. Suppression of the ligand-mediated down-regulation of epidermal growth factor receptor by Ymer, a novel tyrosine-phosphorylated and ubiquitinated protein. (PMID: 16803894) Tashiro K. … Taniguchi H. (J. Biol. Chem. 2006) 2 67
  3. Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28. (PMID: 14527723) Vazza G. … Mostacciuolo M.L. (Gene 2003) 23 67
  4. BioID-based Identification of Skp Cullin F-box (SCF)I^-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E. … Raught B. (Mol. Cell Proteomics 2015) 67
  5. SH3RF2 functions as an oncogene by mediating PAK4 protein stability. (PMID: 24130170) Kim T.W. … Park K.C. (Carcinogenesis 2014) 67

Products for CCDC50 Gene

Sources for CCDC50 Gene

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