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

Gene ID: 84660, updated on 5-Mar-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 estrogen receptor binding activity and nuclear receptor coactivator activity. Involved in cellular response to estradiol stimulus and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 44.6) See more
Orthologs
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Genomic context

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Location:
12q24.31
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122774572..122827528)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122769980..122822978)
105.20220307 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. 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
  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. 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
  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)

Genotypes

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 
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_2023_10

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

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