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

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

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