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

Summary

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

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Three functional polymorphisms in CCDC170 were associated with osteoporosis phenotype.
Title: Three functional polymorphisms in CCDC170 were associated with osteoporosis phenotype.
CCDC170 affects breast cancer apoptosis through IRE1 pathway.
Title: CCDC170 affects breast cancer apoptosis through IRE1 pathway.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies five new breast cancer susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple genetic loci for bone mineral density and fractures. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. EBI GWAS Catalog EBI GWAS CatalogPubMed
New sequence variants associated with bone mineral density. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S2448 (e-PCR)
- UniSTS:474444

RH65963 (e-PCR)
- UniSTS:7251

D1S3690 (e-PCR)
- UniSTS:474268

D6S1255 (e-PCR)
- UniSTS:73393

D6S1305 (e-PCR)
- UniSTS:72636

RH35682 (e-PCR)
- UniSTS:29951

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

NG_021198.1 RefSeqGene

Range

4978..132154

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

151494017..151621193

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060930.1 Alternate T2T-CHM13v2.0

Range

152694662..152822401

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054356458.1 → XP_054212433.1 coiled-coil domain-containing protein 170 isoform X3
XM_054356457.1 → XP_054212432.1 coiled-coil domain-containing protein 170 isoform X2
XM_054356456.1 → XP_054212431.1 coiled-coil domain-containing protein 170 isoform X1