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    CCDC70 coiled-coil domain containing 70 [ Homo sapiens (human) ]

    Gene ID: 83446, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CCDC70provided by HGNC
    Official Full Name
    coiled-coil domain containing 70provided by HGNC
    Primary source
    HGNC:HGNC:25303
    See related
    Ensembl:ENSG00000123171 AllianceGenome:HGNC:25303
    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
    Summary
    Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 39.7) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    13q14.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (51861969..51866232)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (51076664..51080932)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52436105..52440368)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene WD repeat and FYVE domain containing 2 Neighboring gene uncharacterized LOC124903177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7778 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5376 Neighboring gene dehydrogenase/reductase 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:52371189-52371717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7781 Neighboring gene uncharacterized LOC107984561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7782 Neighboring gene transmembrane protein 272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:52423314-52423814 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:52435707-52436906 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52501865-52503064 Neighboring gene CTAGE family member 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7784 Neighboring gene ATPase copper transporting beta Neighboring gene fatty acid binding protein 5 pseudogene 2

    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. The DNA sequence and analysis of human chromosome 13. Dunham A, et al. Nature, 2004 Apr 1. PMID 15057823, Free PMC Article
    2. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article
    3. BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A. Mao CG, et al. Thorac Cancer, 2020 Nov. PMID 33001583, Free PMC Article
    4. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article

    See all (17) 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

    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

    • FLJ25853, DKFZp434K1172

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 70

    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_001346075.2 → NP_001333004.2  coiled-coil domain-containing protein 70

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL162377
      Consensus CDS
      CCDS9431.2
      UniProtKB/Swiss-Prot
      Q6NSX1, Q8N7A8, Q9H097

    2. NM_031290.4 → NP_112580.3  coiled-coil domain-containing protein 70

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL162377
      Consensus CDS
      CCDS9431.2
      UniProtKB/Swiss-Prot
      Q6NSX1, Q8N7A8, Q9H097
      Related
      ENSP00000242819.5, ENST00000242819.7

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      51861969..51866232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      51076664..51080932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NSX1.2 GenPept UniProtKB/Swiss-Prot:Q6NSX1

    Gene LinkOut

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

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