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

Gene ID: 84660, updated on 5-Sep-2021

Summary

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
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; TSP-NY
Expression
Restricted expression toward testis (RPKM 44.6) See more
Orthologs
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Genomic context

See CCDC62 in Genome Data Viewer
Location:
12q24.31
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (122773621..122827528)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123259119..123312075)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1215 Neighboring gene density regulated re-initiation and release factor Neighboring gene huntingtin interacting protein 1 related Neighboring gene VPS37B subunit of ESCRT-I

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
GeneReviews: Not available
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25432, FLJ40344

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 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 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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_201435.5NP_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
    Q6P9F0
    Related
    ENSP00000253079.6, ENST00000253079.11
    Conserved Domains (1) summary
    COG1196
    Location:57322
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    122773621..122827528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020033.2XP_016875522.1  coiled-coil domain-containing protein 62 isoform X4

  2. XM_011538857.2XP_011537159.1  coiled-coil domain-containing protein 62 isoform X5

    Conserved Domains (1) summary
    COG1196
    Location:57322
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  3. XM_011538856.2XP_011537158.1  coiled-coil domain-containing protein 62 isoform X2

    Conserved Domains (1) summary
    COG1196
    Location:57321
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  4. XM_006719643.2XP_006719706.1  coiled-coil domain-containing protein 62 isoform X1

    See identical proteins and their annotated locations for XP_006719706.1

    UniProtKB/Swiss-Prot
    Q6P9F0
    Conserved Domains (1) summary
    COG1196
    Location:57322
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  5. XM_006719644.2XP_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:57322
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  6. XM_011538859.2XP_011537161.1  coiled-coil domain-containing protein 62 isoform X6

    Related
    ENSP00000445045.1, ENST00000537566.5

RNA

  1. XR_001748904.2 RNA Sequence

  2. XR_944784.2 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.
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