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    CCDC170 coiled-coil domain containing 170 [ Homo sapiens (human) ]

    Gene ID: 80129, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CCDC170provided by HGNC
    Official Full Name
    coiled-coil domain containing 170provided by HGNC
    Primary source
    HGNC:HGNC:21177
    See related
    Ensembl:ENSG00000120262 AllianceGenome:HGNC:21177
    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
    C6orf97; bA282P11.1
    Summary
    The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]
    Expression
    Broad expression in thyroid (RPKM 3.8), lung (RPKM 3.2) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC170 in Genome Data Viewer
    Location:
    6q25.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (151494017..151621193)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (152694662..152822401)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (151815152..151942328)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17688 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:151776537-151777294 Neighboring gene uncharacterized LOC124901434 Neighboring gene uncharacterized LOC124901436 Neighboring gene acidic residue methyltransferase 1 Neighboring gene uncharacterized LOC107986528 Neighboring gene uncharacterized LOC124901435 Neighboring gene RNA, U6 small nuclear 813, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151969745-151970311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25284 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:152017738-152017865 Neighboring gene estrogen receptor 1 Neighboring gene uncharacterized LOC107986529

    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. Current evidence on the association between rs3757318 of C6orf97 and breast cancer risk: a meta-analysis. Hong Y, et al. Asian Pac J Cancer Prev, 2014. PMID 25338983
    2. CCDC170 affects breast cancer apoptosis through IRE1 pathway. Wang Q, et al. Aging (Albany NY), 2020 Dec 3. PMID 33291081, Free PMC Article
    3. Relationship between rs7586085, GALNT3 and CCDC170 gene polymorphisms and the risk of osteoporosis among the Chinese Han population. Zhang J, et al. Sci Rep, 2022 Apr 12. PMID 35414641, Free PMC Article
    4. Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. Stacey SN, et al. PLoS Genet, 2010 Jul 22. PMID 20661439, Free PMC Article
    5. The Protein Encoded by the CCDC170 Breast Cancer Gene Functions to Organize the Golgi-Microtubule Network. Jiang P, et al. EBioMedicine, 2017 Aug. PMID 28687497, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Relationship between rs7586085, GALNT3 and CCDC170 gene polymorphisms and the risk of osteoporosis among the Chinese Han population.
      Title: Relationship between rs7586085, GALNT3 and CCDC170 gene polymorphisms and the risk of osteoporosis among the Chinese Han population.
    2. Three functional polymorphisms in CCDC170 were associated with osteoporosis phenotype.
      Title: Three functional polymorphisms in CCDC170 were associated with osteoporosis phenotype.
    3. CCDC170 affects breast cancer apoptosis through IRE1 pathway.
      Title: CCDC170 affects breast cancer apoptosis through IRE1 pathway.
    4. COL1A1, CCDC170, and ESR1 single nucleotide polymorphisms associated with distal radius fracture in postmenopausal Mexican women.
      Title: COL1A1, CCDC170, and ESR1 single nucleotide polymorphisms associated with distal radius fracture in postmenopausal Mexican women.
    5. Therapeutic role of recurrent ESR1-CCDC170 gene fusions in breast cancer endocrine resistance.
      Title: Therapeutic role of recurrent ESR1-CCDC170 gene fusions in breast cancer endocrine resistance.
    6. The study shows that an association of theRMND1/CCDC170-ESR1 single nucleotide polymorphisms can exist with osteopenia, osteoporosis, or fragility fracture.
      Title: Association of RMND1/CCDC170-ESR1 single nucleotide polymorphisms with hip fracture and osteoporosis in postmenopausal women.
    7. Findings demonstrate that CCDC170 plays an essential role in Golgi-associated microtubules organization and stabilization, and implicate a mechanism for how perturbations in the CCDC170 gene may contribute to the hallmark changes in cell polarity and motility seen in breast cancer.
      Title: The Protein Encoded by the CCDC170 Breast Cancer Gene Functions to Organize the Golgi-Microtubule Network.
    8. Genetic variation at the WLS and CCDC170/ESR1 loci were found to be significantly associated with bone mineral density
      Title: Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density.
    9. Expression of ESR1, RMND1 and CCDC170 associated with variants in separate enhancer elements predisposing breast cancer. [meta-analysis]
      Title: Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
    10. Data suggest that rs2046210 SNPs located in the region of C6ORF97 (CCDC170)-estrogen receptor alpha (ESR1) might have substantial roles not only in carcinogenesis but also in progression toward a more aggressive phenotype in breast cancer patients.
      Title: C6ORF97-ESR1 breast cancer susceptibility locus: influence on progression and survival in breast cancer patients.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    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 identifies novel loci associated with susceptibility to chronic myeloid leukemia.
    EBI GWAS Catalog
    Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
    EBI GWAS Catalog
    Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.
    EBI GWAS Catalog
    Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
    EBI GWAS Catalog
    Genome-wide association study identifies five new breast cancer susceptibility loci.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog
    Multiple genetic loci for bone mineral density and fractures.
    EBI GWAS Catalog
    Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
    EBI GWAS Catalog
    New sequence variants associated with bone mineral density.
    EBI GWAS Catalog
    Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association 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

    • FLJ23305

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 170

    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.

    Genomic

    1. NG_021198.1 RefSeqGene

      Range
      4978..132154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025059.4 → NP_079335.2  coiled-coil domain-containing protein 170

      See identical proteins and their annotated locations for NP_079335.2

      Status: VALIDATED

      Source sequence(s)
      AK225330, AL359494, AL590543, BC060803, DB232703
      Consensus CDS
      CCDS43515.1
      UniProtKB/Swiss-Prot
      Q5VXB7, Q6P9E4, Q8IYT3, Q96KA9, Q9H5M3
      Related
      ENSP00000239374.6, ENST00000239374.8
      Conserved Domains (2) summary
      COG1196
      Location:43 → 650
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00187
      Location:441 → 570
      TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      151494017..151621193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419372.1 → XP_047275328.1  coiled-coil domain-containing protein 170 isoform X3

    2. XM_011536148.3 → XP_011534450.1  coiled-coil domain-containing protein 170 isoform X2

      Conserved Domains (2) summary
      COG1196
      Location:49 → 591
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00187
      Location:380 → 509
      TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...

    3. XM_011536147.3 → XP_011534449.1  coiled-coil domain-containing protein 170 isoform X1

      Conserved Domains (2) summary
      COG1196
      Location:49 → 656
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00187
      Location:447 → 576
      TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      152694662..152822401
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356458.1 → XP_054212433.1  coiled-coil domain-containing protein 170 isoform X3

    2. XM_054356457.1 → XP_054212432.1  coiled-coil domain-containing protein 170 isoform X2

    3. XM_054356456.1 → XP_054212431.1  coiled-coil domain-containing protein 170 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYT3.3 GenPept UniProtKB/Swiss-Prot:Q8IYT3

    Gene LinkOut

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

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