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    CCDC60 coiled-coil domain containing 60 [ Homo sapiens (human) ]

    Gene ID: 160777, updated on 17-Sep-2024

    Summary

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    Official Symbol
    CCDC60provided by HGNC
    Official Full Name
    coiled-coil domain containing 60provided by HGNC
    Primary source
    HGNC:HGNC:28610
    See related
    Ensembl:ENSG00000183273 AllianceGenome:HGNC:28610
    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
    Expression
    Biased expression in testis (RPKM 3.1), prostate (RPKM 0.5) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC60 in Genome Data Viewer
    Location:
    12q24.23
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (119334729..119541040)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (119322154..119528383)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (119772534..119978845)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903032 Neighboring gene long intergenic non-protein coding RNA 934 Neighboring gene NANOG hESC enhancer GRCh37_chr12:119745461-119745962 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:119807339-119808538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7114 Neighboring gene uncharacterized LOC105370027 Neighboring gene NANOG hESC enhancer GRCh37_chr12:119828163-119828664 Neighboring gene NANOG hESC enhancer GRCh37_chr12:119861020-119861540 Neighboring gene MPRA-validated peak2000 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:119924434-119924986 Neighboring gene MPRA-validated peak2001 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120031567-120032140 Neighboring gene transmembrane protein 233 Neighboring gene RN7SK pseudogene 197 Neighboring gene GATA motif-containing MPRA enhancer 88 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120106633-120107268 Neighboring gene uncharacterized LOC124903033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120115207-120115708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120115709-120116208 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:120117012-120118211 Neighboring gene protein kinase AMP-activated non-catalytic subunit beta 1

    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 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. A genome-wide association study in 574 schizophrenia trios using DNA pooling. Kirov G, et al. Mol Psychiatry, 2009 Aug. PMID 18332876
    2. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. Lunetta KL, et al. BMC Med Genet, 2007 Sep 19. PMID 17903295, Free PMC Article
    3. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
    4. NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90. Chen W, et al. Cell Death Dis, 2020 Jul 14. PMID 32665550, Free PMC Article
    5. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study in 574 schizophrenia trios using DNA pooling.
    EBI GWAS Catalog
    Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.
    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

    • MGC39827

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 60

    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_178499.5 → NP_848594.2  coiled-coil domain-containing protein 60

      See identical proteins and their annotated locations for NP_848594.2

      Status: VALIDATED

      Source sequence(s)
      BC040553, BM724243, DB535883, HY032673
      Consensus CDS
      CCDS9190.1
      UniProtKB/Swiss-Prot
      Q8IWA6
      Related
      ENSP00000333374.2, ENST00000327554.3
      Conserved Domains (1) summary
      pfam15769
      Location:59 → 539
      DUF4698; Domain of unknown function (DUF4698)

    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
      119334729..119541040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018912.3 → XP_016874401.1  coiled-coil domain-containing protein 60 isoform X2

    2. XM_017018913.3 → XP_016874402.1  coiled-coil domain-containing protein 60 isoform X4

    3. XM_017018911.3 → XP_016874400.1  coiled-coil domain-containing protein 60 isoform X1

    4. XM_047428445.1 → XP_047284401.1  coiled-coil domain-containing protein 60 isoform X3

    5. XM_017018916.2 → XP_016874405.1  coiled-coil domain-containing protein 60 isoform X6

    6. XM_017018914.2 → XP_016874403.1  coiled-coil domain-containing protein 60 isoform X5

    7. XM_017018915.2 → XP_016874404.1  coiled-coil domain-containing protein 60 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      119322154..119528383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371301.1 → XP_054227276.1  coiled-coil domain-containing protein 60 isoform X2

    2. XM_054371303.1 → XP_054227278.1  coiled-coil domain-containing protein 60 isoform X4

    3. XM_054371300.1 → XP_054227275.1  coiled-coil domain-containing protein 60 isoform X1

    4. XM_054371302.1 → XP_054227277.1  coiled-coil domain-containing protein 60 isoform X3

    5. XM_054371306.1 → XP_054227281.1  coiled-coil domain-containing protein 60 isoform X6

    6. XM_054371304.1 → XP_054227279.1  coiled-coil domain-containing protein 60 isoform X5

    7. XM_054371305.1 → XP_054227280.1  coiled-coil domain-containing protein 60 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWA6.2 GenPept UniProtKB/Swiss-Prot:Q8IWA6

    Gene LinkOut

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

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