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

Gene ID: 80129, updated on 5-Mar-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
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Genomic context

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Location:
6q25.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (151494017..151621193)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (152694662..152822401)
105.20220307 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
  • 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. CCDC170 affects breast cancer apoptosis through IRE1 pathway. Wang Q, et al. Aging (Albany NY), 2020 Dec 3. PMID 33291081, Free PMC Article
  2. 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
  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. Three functional polymorphisms in CCDC170 were associated with osteoporosis phenotype. Liu X, et al. Biol Open, 2021 Apr 15. PMID 33785515, Free PMC Article
  5. Therapeutic role of recurrent ESR1-CCDC170 gene fusions in breast cancer endocrine resistance. Li L, et al. Breast Cancer Res, 2020 Aug 8. PMID 32771039, Free PMC Article

See all (46) 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_2023_10

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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