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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
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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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