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Aliases for CCDC50 Gene

Aliases for CCDC50 Gene

  • Coiled-Coil Domain Containing 50 2 3 5
  • 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

Regulatory Elements for CCDC50 Gene

Promoters for CCDC50 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CCDC50 on UCSC Golden Path with GeneCards custom track

Genomic Location for CCDC50 Gene

Chromosome:
3
Start:
191,329,077 bp from pter
End:
191,398,670 bp from pter
Size:
69,594 bases
Orientation:
Plus strand

Genomic View for CCDC50 Gene

Genes around CCDC50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q8IVM0-CCD50_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 50
    Protein Accession:
    Q8IVM0
    Secondary Accessions:
    • Q86VH7

    Protein attributes for CCDC50 Gene

    Size:
    306 amino acids
    Molecular mass:
    35822 Da
    Quaternary structure:
    • Interacts with RNF126.
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

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

InterPro:
ProtoNet:

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.
genes like me logo Genes that share phenotypes with CCDC50: view

Human Phenotype Ontology for CCDC50 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for CCDC50 Gene COMPARTMENTS Subcellular localization image for CCDC50 gene
Compartment Confidence
cytosol 3
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for CCDC50 Gene

Pathways & Interactions for CCDC50 Gene

SuperPathways for CCDC50 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC50 Gene

None

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:

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1:
SP2: -

Relevant External Links for CCDC50 Gene

GeneLoc Exon Structure for
CCDC50
ECgene alternative splicing isoforms for
CCDC50

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, MOPED, and MaxQB for CCDC50 Gene



SOURCE GeneReport for Unigene cluster for CCDC50 Gene Hs.478682

mRNA Expression by UniProt/SwissProt for CCDC50 Gene

Q8IVM0-CCD50_HUMAN
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

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
chimpanzee
(Pan troglodytes)
Mammalia CCDC50 35
  • 99.24 (n)
  • 98.76 (a)
CCDC50 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC50 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC50 36
  • 83 (a)
OneToOne
CCDC50 35
  • 88.84 (n)
  • 83.16 (a)
mouse
(Mus musculus)
Mammalia Ccdc50 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC50 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC50 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC50 36
  • 66 (a)
OneToOne
CCDC50 35
  • 67.8 (n)
  • 64.4 (a)
lizard
(Anolis carolinensis)
Reptilia CCDC50 36
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14896 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17651 35
zebrafish
(Danio rerio)
Actinopterygii AL929204.1 36
  • 27 (a)
OneToMany
CCDC50 (1 of 4) 36
  • 17 (a)
OneToMany
CCDC50 (2 of 4) 36
  • 24 (a)
OneToMany
CCDC50 (4 of 4) 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 14 (a)
OneToOne
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

ENSEMBL:
Gene Tree for CCDC50 (if available)
TreeFam:
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
rs35380043 - 191,369,951(+) TCCTG(A/T)AACTC reference, missense
rs293813 - 191,380,177(-) CTTTC(A/C/G/T)TCACT downstream-variant-500B, reference, missense
rs159488 -- 191,350,623(-) TCCCA(A/G)TGCTT intron-variant
rs211043 -- 191,380,942(+) AGTGT(A/C/G)TTTTG intron-variant
rs6953 -- 191,398,344(-) ACACA(A/G)ACTTA 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: 63.1% 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
CCDC50
Human Gene Mutation Database (HGMD)
CCDC50

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

Disorders for CCDC50 Gene

MalaCards: The human disease database

(8) 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 non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
deafness, autosomal dominant 40
  • deafness, autosomal dominant, 40
chromosome 3q29 microdeletion syndrome
  • 3q subtelomere deletion syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CCD50_HUMAN
  • 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)
CCDC50
Human Genome Epidemiology (HuGE) Navigator
CCDC50
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC50
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 3 4 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 3
  3. Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28. (PMID: 14527723) Vazza G. … Mostacciuolo M.L. (Gene 2003) 3 23
  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) 3
  5. SH3RF2 functions as an oncogene by mediating PAK4 protein stability. (PMID: 24130170) Kim T.W. … Park K.C. (Carcinogenesis 2014) 3

Products for CCDC50 Gene

Sources for CCDC50 Gene

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