Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CCDC50 Gene

protein-coding   GIFtS: 51
GCID: GC03P191046

Coiled-Coil Domain Containing 50

(Previous names: deafness, autosomal dominant 44)
(Previous symbols: C3orf6, DFNA44)
  See CCDC50-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Coiled-Coil Domain Containing 501 2     Deafness, Autosomal Dominant 441
C3orf61 2 3 5     YMER2
DFNA441 2 5     Coiled-Coil Domain-Containing Protein 502
Protein Ymer2 3     

External Ids:    HGNC: 181111   Entrez Gene: 1521372   Ensembl: ENSG000001524927   OMIM: 6110515   UniProtKB: Q8IVM03   

Export aliases for CCDC50 gene to outside databases

Previous GC identifers: GC03P192530 GC03P188446


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 dfna44 nonsyndromic hearing loss and deafness, and deafness, autosomal dominant 44.

UniProtKB/Swiss-Prot: CCD50_HUMAN, Q8IVM0
Function: Involved in EGFR signaling

Gene Wiki entry for CCDC50 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC50 gene promoter:
         c-Fos   LHX3b/Lhx3b   AP-1   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   RORalpha2   Evi-1   LHX3a/Lhx3a   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC50 promoter sequence
   Search Chromatin IP Primers for CCDC50

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC50


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q28   Ensembl cytogenetic band:  3q28   HGNC cytogenetic band: 3q28

CCDC50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC50 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P191046:  view genomic region     (about GC identifiers)

Start:
191,046,866 bp from pter      End:
191,116,459 bp from pter
Size:
69,594 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CCD50_HUMAN, Q8IVM0 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 50  
Size: 306 amino acids; 35822 Da
Miscellaneous: Found in a critical region of hereditary spastic paraplegia (HSP) SPG14 locus. No causative CCDC50
mutations were found in HSP families
Secondary accessions: Q86VH7
Alternative splicing: 2 isoforms:  Q8IVM0-1   Q8IVM0-2   (Major isoform)

Explore the universe of human proteins at neXtProt for CCDC50: NX_Q8IVM0

Explore proteomics data for CCDC50 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine residues1
  • Ubiquitination2 at Lys119, Lys129, Lys152, Lys157, Lys181, Lys232
  • Modification sites at PhosphoSitePlus

  • See CCDC50 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_777568.1  NP_848018.1  

    ENSEMBL proteins: 
     ENSP00000376249   ENSP00000376250  

    CCDC50 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CCDC50
    OriGene Protein Over-expression Lysate for CCDC50
    OriGene MassSpec for CCDC50
    OriGene Custom Protein Services for CCDC50
    GenScript Custom Purified and Recombinant Proteins Services for CCDC50
    Novus Biologicals CCDC50 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CCDC50

     
    Search eBioscience for Proteins for CCDC50 

     
    antibodies-online proteins for CCDC50 (3 products) 

     
    antibodies-online peptides for CCDC50

    CCDC50 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CCDC50
    OriGene Custom Antibody Services for CCDC50
    Novus Biologicals CCDC50 Antibodies
    Abcam antibodies for CCDC50
    Cloud-Clone Corp. Antibodies for CCDC50
    ThermoFisher Antibody for CCDC50
    antibodies-online antibodies for CCDC50 (45 products) 

    CCDC50 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CCDC50
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CCDC50
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CCDC50
    Cloud-Clone Corp. CLIAs for CCDC50
    Search eBioscience for ELISAs for CCDC50 
    antibodies-online kits for CCDC50 (20 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus

    ProtoNet protein and cluster: Q8IVM0


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CCD50_HUMAN, Q8IVM0
    Function: Involved in EGFR signaling

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18029035
         
    Find genes that share ontologies with CCDC50           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CCDC50

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat CCDC50 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CCDC50 (see all 80):
    hsa-miR-548j hsa-miR-106a hsa-miR-1245 hsa-miR-605 hsa-miR-519a hsa-miR-502-3p hsa-miR-93 hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidCCDC50 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CCDC50
    Predesigned siRNA for gene silencing in human, mouse, rat CCDC50

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CCDC50

    Clone
    Products:
         
    OriGene clones in human, mouse for CCDC50 (see all 14)
    OriGene ORF clones in mouse, rat for CCDC50
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC50 (NM_178335)
    Sino Biological Human cDNA Clone for CCDC50
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC50
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC50

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CCDC50
    Browse ESI BIO Cell Lines and PureStem Progenitors for CCDC50 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC50


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CCD50_HUMAN, Q8IVM0: Cytoplasm. Note=Associated with microtubules of the cytoskeleton and mitotic apparatus (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with CCDC50           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CCDC50
    Interactions:

        Search GeneGlobe Interaction Network for CCDC50

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for CCDC50 (Q8IVM01, 2, 3 ENSP000003762504) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OTUD7BQ6GQQ91, 3, ENSP000003581314EBI-723996,EBI-527784 I2D: score=1 STRING: ENSP00000358131
    UBBP0CG471, 3, ENSP000003046974EBI-723996,EBI-413034 I2D: score=1 STRING: ENSP00000304697
    RIPK1Q135461, 3, ENSP000002598084EBI-723996,EBI-358507 I2D: score=3 STRING: ENSP00000259808
    RPS3AP612472, 3, ENSP000003460504MINT-64849 I2D: score=3 STRING: ENSP00000346050
    UBCP0CG483, ENSP000003448184I2D: score=2 STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CCDC50 (CCD50)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CCDC50 gene (2 alternative transcripts): 
    NM_174908.3  NM_178335.2  

    Unigene Cluster for CCDC50:

    Coiled-coil domain containing 50
    Hs.478682  [show with all ESTs]
    Unigene Representative Sequence: NM_178335
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392455(uc003fsv.3 uc003fsw.3) ENST00000392456 ENST00000460064

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CCDC50 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CCDC50 (see all 80):
    hsa-miR-548j hsa-miR-106a hsa-miR-1245 hsa-miR-605 hsa-miR-519a hsa-miR-502-3p hsa-miR-93 hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidCCDC50 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CCDC50
    Predesigned siRNA for gene silencing in human, mouse, rat CCDC50
    Clone
    Products:
         
    OriGene clones in human, mouse for CCDC50 (see all 14)
    OriGene ORF clones in mouse, rat for CCDC50
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC50 (NM_178335)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC50
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC50
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CCDC50
    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC50
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CCDC50
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC50
      QuantiFast Probe-based Assays in human, mouse, rat CCDC50

    Additional mRNA sequence: 

    AJ416916.2 AJ557013.1 AK055652.1 AK092045.1 AK093660.1 AL512753.1 BC065004.1 

    10 DOTS entries:

    DT.445499  DT.95080968  DT.216377  DT.100774449  DT.120881814  DT.92017035  DT.92025937  DT.100798370 
    DT.100798380  DT.91741772 

    Selected AceView cDNA sequences (see all 330):

    AI804098 AA237060 AI459282 CR610519 CA390285 BQ776280 AA410301 AW074000 
    CA419775 AL512753 CR618316 CD674806 BM705027 AA376060 AW025956 BM906531 
    AI279510 BG057937 AA513091 BQ188021 AK093660 AA453734 BG501407 BM847935 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC50    About this scheme

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


    ECgene alternative splicing isoforms for CCDC50

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    CCDC50 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CCDC50 Expression
    About this image

    CCDC50 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC50 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.478682

    UniProtKB/Swiss-Prot: CCD50_HUMAN, Q8IVM0
    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

        Custom PCR Arrays for CCDC50
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CCDC50
    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC50
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CCDC50
    QuantiTect SYBR Green Assays in human, mouse, rat CCDC50
    QuantiFast Probe-based Assays in human, mouse, rat CCDC50
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC50

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for CCDC50 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc505 coiled-coil domain containing 50   --   16 (18.98 cM) 27388869 
    chicken
    (Gallus gallus)
    Aves CCDC501 coiled-coil domain containing 50 67.8(n)
    64.4(a)
      424906  NM_001031315.1  NP_001026486.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC506
    coiled-coil domain containing 50
    61(a)
    1 ↔ 1
    GL343386.1(938243-968173)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.148962 Xenopus laevis transcribed sequence with weak similarity more 77.21(n)    BM004828.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AL929204.16
    CCDC50 (2 of 4)6
    (see all 4)
    coiled-coil domain containing 50
    (see all 4)
    27(a)
    24(a)
    (see all 4)
    many → 1
    many → 1
    (see all 4)
    11(41511434-41553189) ENSDARG00000090973
    22(23453199-23490125) ENSDARG00000078514


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CCDC50 (see all 1597)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs717874061,2
    C--188447444(+) TGGTT-/GG/GGG
            
    GGGGG
    2 -- int11CSA 2
    rs2006213441,2
    --188447444(+) GGTTG-/TGGGGG 2 -- int10--------
    rs1159862331,2
    C--188447455(+) GGGGGA/G/TGGCTA 2 -- int10--------
    rs722082791,2
    C--188463405(+) AAAAC-/TGTTGAT 2 -- int10--------
    rs1998293941,2
    --188467476(+) CCCCC-/TCTCCC 2 -- int10--------
    rs771540841,2
    C--188470278(+) AACAT-/ATCATTGA 2 -- cds10--------
    rs348625221,2
    C--188470279(+) ACATA-/ATC/  
     CAT
    /TCA
    TTGAA
    6 -- cds10--------
    rs731852181,2
    F--188482103(+) TTTTTT/AAATTT 2 -- int13Minor allele frequency- A:0.18WA NA EA 358
    rs58553671,2
    C--188506404(+) ATATC-/TTTTTT 2 -- int1 trp31Minor allele frequency- T:0.00NA 2
    rs633988601,2
    C--188507333(+) TTCAC-/TTTTT 
            
    TTTTT
    2 -- int11Minor allele frequency- TTTTT:0.00NA 2

    HapMap Linkage Disequilibrium report for CCDC50 (191046866 - 191116459 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CCDC50 (see all 37):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2421497CNV Deletion20811451
    dgv903e199CNV Deletion23128226
    nsv435761CNV Deletion17901297
    nsv821209CNV Deletion20802225
    esv2726395CNV Deletion23290073
    esv1000145CNV Insertion20482838
    esv1041065CNV Insertion17803354
    esv271516CNV Insertion20981092
    nsv818201CNV Loss17921354
    dgv633n27CNV Loss19166990

    Human Gene Mutation Database (HGMD): CCDC50
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC50
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC50

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 611051   
    OMIM disorders: 607453  
    UniProtKB/Swiss-Prot: CCD50_HUMAN, Q8IVM0
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for CCDC50:    
    About MalaCards
    dfna44 nonsyndromic hearing loss and deafness    deafness, autosomal dominant 44    deafness, autosomal dominant 4b


    Find genes that share disorders with CCDC50           About GenesLikeMe

    Genetic Association Database (GAD): CCDC50
    Human Genome Epidemiology (HuGE) Navigator: CCDC50 (1 document)

    Export disorders for CCDC50 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for CCDC50 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with CCDC50)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. (PubMed id 17503326)1, 2, 3 Modamio-Hoeybjoer S.... Moreno-Pelayo M.A. (Am. J. Hum. Genet. 2007)
    2. Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28. (PubMed id 14527723)1, 2, 9 Vazza G.... Mostacciuolo M.L. (Gene 2003)
    3. Suppression of the ligand-mediated down-regulation of epidermal growth factor receptor by Ymer, a novel tyrosine-phosphorylated and ubiquitinated protein. (PubMed id 16803894)1, 3 Tashiro K....Taniguchi H. (J. Biol. Chem. 2006)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. Temporal analysis of phosphotyrosine-dependent signaling networks by quantitative proteomics. (PubMed id 15314609)1, 2 Blagoev B.... Mann M. (Nat. Biotechnol. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. SH3RF2 functions as an oncogene by mediating PAK4 protein stability. (PubMed id 24130170)1 Kim T.W....Park K.C. (Carcinogenesis 2014)
    8. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. (PubMed id 23562540)1 Cruchaga C....Goate A.M. (Neuron 2013)
    9. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 152137 HGNC: 18111 AceView: C3orf6 Ensembl:ENSG00000152492 euGenes: HUgn152137
    ECgene: CCDC50 H-InvDB: CCDC50

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CCDC50 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CCDC50 gene:
    Search GeneIP for patents involving CCDC50

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for CCDC50   OriGene RNAi products in human, mouse, rat for CCDC50  
     OriGene qPCR primer pairs and template standards for CCDC50   OriGene Protein Over-expression Lysate for CCDC50  
     OriGene MassSpec for CCDC50   OriGene clones in human, mouse for CCDC50  
     OriGene qSTAR qPCR primer pairs in human, mouse for CCDC50   OriGene Purified Protein for CCDC50  
     OriGene ORF clones in mouse, rat for CCDC50   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CCDC50   OriGene Custom Protein Services for CCDC50  

     
     
     Block miRNA regulation of human, mouse, rat CCDC50 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CCDC50
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC50 Predesigned siRNA for gene silencing in human, mouse, rat CCDC50
     QuantiFast Probe-based Assays in human, mouse, rat CCDC50 QuantiTect SYBR Green Assays in human, mouse, rat CCDC50
     Custom PCR Arrays for CCDC50 Search Chromatin IP Primers for CCDC50
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CCDC50  Search GeneGlobe Interaction Network for CCDC50
     Regulatory tfbs in CCDC50 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CCDC50 GenScript cDNA clones with any tag delivered in your preferred vector for CCDC50
     GenScript Custom Assay Services for CCDC50 GenScript Custom overexpressing Cell Line Services for CCDC50
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CCDC50 (CCD50)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for CCDC50
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CCDC50 antibodies
     CCDC50 lysates
     Antibodies for CCDC50
     See all of Abcam's Antibodies, Kits and Proteins for CCDC50
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CCDC50
     Antibodies for CCDC50
     ELISAs for CCDC50
     CLIAs for CCDC50



     Browse ESI BIO Cell Lines and PureStem Progenitors for CCDC50
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC50
     SwitchGear 3'UTR luciferase reporter plasmids for CCDC50
     SwitchGear Promoter luciferase reporter plasmids for CCDC50
     ThermoFisher Antibody for CCDC50
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC50
     Browse compounds at ApexBio
     Search Addgene for plasmids for CCDC50
      Search eBioscience for proteins for CCDC50
      Search eBioscience for elisas for CCDC50
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for CCDC50
     antibodies-online antibodies for CCDC50 (45 products)
     antibodies-online kits for CCDC50 (20 products)
     antibodies-online peptides for CCDC50
     antibodies-online proteins for CCDC50 (3 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CCDC50 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4