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    CCDC62 coiled-coil domain containing 62 [ Homo sapiens (human) ]

    Gene ID: 84660, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCDC62provided by HGNC
    Official Full Name
    coiled-coil domain containing 62provided by HGNC
    Primary source
    HGNC:HGNC:30723
    See related
    Ensembl:ENSG00000130783 MIM:613481; AllianceGenome:HGNC:30723
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT109; ERAP75; SPGF67; TSP-NY
    Summary
    Enables nuclear estrogen receptor binding activity and nuclear receptor coactivator activity. Involved in cellular response to estradiol stimulus; positive regulation of transcription by RNA polymerase II; and spermatid development. Located in acrosomal vesicle and nucleus. Implicated in spermatogenic failure 67. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 44.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC62 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122774572..122827528)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122769980..122822978)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123259119..123312075)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123214153-123214820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123218665-123219164 Neighboring gene hydroxycarboxylic acid receptor 1 Neighboring gene Sharpr-MPRA regulatory region 1215 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:123235867-123236728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7236 Neighboring gene density regulated re-initiation and release factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5021 Neighboring gene Sharpr-MPRA regulatory region 13845 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:123274450-123275003 Neighboring gene MPRA-validated peak2023 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:123296784-123296959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7238 Neighboring gene MPRA-validated peak2024 silencer Neighboring gene uncharacterized LOC124903040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5023 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123329929-123330760 Neighboring gene huntingtin interacting protein 1 related Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123338415-123338915 Neighboring gene Sharpr-MPRA regulatory region 11411 Neighboring gene uncharacterized LOC124903039 Neighboring gene VPS37B subunit of ESCRT-I

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of CCDC62-2 as a novel cancer/testis antigen and its immunogenicity. Domae S, et al. Int J Cancer, 2009 May 15. PMID 19165854
    2. CCDC62 variant rs12817488 is associated with the risk of Parkinson's disease in a Han Chinese population. Liu RR, et al. Eur Neurol, 2014. PMID 24335092
    3. Possible association of CCDC62 rs12817488 polymorphism and Parkinson's disease risk in Chinese population: a meta-analysis. Lu Y, et al. Sci Rep, 2016 Apr 1. PMID 27035708, Free PMC Article
    4. The single nucleotide polymorphism Rs12817488 is associated with Parkinson's disease in the Chinese population. Yu RL, et al. J Clin Neurosci, 2015 Jun. PMID 25818163
    5. Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. Oud MS, et al. Hum Reprod, 2020 Jan 1. PMID 31985809, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study shown CCDC62 genetic variants for Parkinson's disease are associated with the risk of incident Parkinson's disease in the general population and with impairment in daily functioning in individuals without clinical parkinsonism.
      Title: Genetic risk of Parkinson's disease in the general population.
    2. there is a relationship between rs12817488 and Parkinson's disease risk in Chinese population [meta-analysis]
      Title: Possible association of CCDC62 rs12817488 polymorphism and Parkinson's disease risk in Chinese population: a meta-analysis.
    3. our findings support the conclusion that the rs12817488 in CCDC62/HIP1R polymorphism may increase the risk of Parkinson's disease in the Chinese Han population.
      Title: The single nucleotide polymorphism Rs12817488 is associated with Parkinson's disease in the Chinese population.
    4. Study demonstrated a significant association between rs12817488 and sporadic Parkinson's disease with gender variations in a Chinese cohort
      Title: CCDC62 variant rs12817488 is associated with the risk of Parkinson's disease in a Han Chinese population.
    5. STK39 (rs2102808) and CCDC62/HIP1R (rs12817488) do not appear to influence PD risk.
      Title: Genetic association study between STK39 and CCDC62/HIP1R and Parkinson's disease.
    6. ERAP75 functions as a novel coactivator that can modulate ER alpha function in the prostate stromal cells.
      Title: ERAP75 functions as a coactivator to enhance estrogen receptor alpha transactivation in prostate stromal cells.
    7. Role of CCDC62/ERAP75 as a novel coactivator in prostate cancer cells that can modulate estrogen receptor beta transactivation and receptor function.
      Title: CCDC62/ERAP75 functions as a coactivator to enhance estrogen receptor beta-mediated transactivation and target gene expression in prostate cancer cells.
    8. serological survey of 191 cancer patients with a range of different cancers by ELISA revealed antibodies to CCDC62-2 in 13 patients, including stomach cancer
      Title: Identification of CCDC62-2 as a novel cancer/testis antigen and its immunogenicity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure 67
    MedGen: C5676947 OMIM: 619803 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25432, FLJ40344

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nuclear estrogen receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables nuclear receptor coactivator activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blastocyst hatching IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to estradiol stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in acrosomal vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 62
    Names
    aaa-protein
    cancer/testis antigen 109
    coiled-coil domain-containing protein 60
    testis-specific protein TSP-NY

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_201435.5 → NP_958843.2  coiled-coil domain-containing protein 62

      See identical proteins and their annotated locations for NP_958843.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the supported protein.
      Source sequence(s)
      AC027290, AK292466, BC060796, CD556476, DB458565
      Consensus CDS
      CCDS9238.1
      UniProtKB/Swiss-Prot
      A8K8V1, B3KUP3, Q6P9F0, Q6ZVF2, Q86VJ0, Q9BYZ5
      Related
      ENSP00000253079.6, ENST00000253079.11
      Conserved Domains (1) summary
      COG1196
      Location:57 → 322
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RNA

    1. NR_027918.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains alternate 3' exon structure, compared to variant 2. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC027290, AY254201, CD556476

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      122774572..122827528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719644.3 → XP_006719707.1  coiled-coil domain-containing protein 62 isoform X3

      See identical proteins and their annotated locations for XP_006719707.1

      UniProtKB/Swiss-Prot
      Q6P9F0
      Related
      ENSP00000376236.4, ENST00000392441.8
      Conserved Domains (1) summary
      COG1196
      Location:57 → 322
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    2. XM_011538857.3 → XP_011537159.1  coiled-coil domain-containing protein 62 isoform X4

      Conserved Domains (1) summary
      COG1196
      Location:57 → 322
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    3. XM_011538856.3 → XP_011537158.1  coiled-coil domain-containing protein 62 isoform X2

      Conserved Domains (1) summary
      COG1196
      Location:57 → 321
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    4. XM_006719643.3 → XP_006719706.1  coiled-coil domain-containing protein 62 isoform X1

      See identical proteins and their annotated locations for XP_006719706.1

      UniProtKB/Swiss-Prot
      A8K8V1, B3KUP3, Q6P9F0, Q6ZVF2, Q86VJ0, Q9BYZ5
      Conserved Domains (1) summary
      COG1196
      Location:57 → 322
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    5. XM_047429680.1 → XP_047285636.1  coiled-coil domain-containing protein 62 isoform X5

    RNA

    1. XR_944784.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      122769980..122822978
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373499.1 → XP_054229474.1  coiled-coil domain-containing protein 62 isoform X3

    2. XM_054373500.1 → XP_054229475.1  coiled-coil domain-containing protein 62 isoform X4

    3. XM_054373498.1 → XP_054229473.1  coiled-coil domain-containing protein 62 isoform X2

    4. XM_054373497.1 → XP_054229472.1  coiled-coil domain-containing protein 62 isoform X1

      UniProtKB/Swiss-Prot
      A8K8V1, B3KUP3, Q6P9F0, Q6ZVF2, Q86VJ0, Q9BYZ5

    5. XM_054373501.1 → XP_054229476.1  coiled-coil domain-containing protein 62 isoform X5

    RNA

    1. XR_008488703.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032573.5: Suppressed sequence

      Description
      NM_032573.5: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P9F0.2 GenPept UniProtKB/Swiss-Prot:Q6P9F0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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