CCDC6 coiled-coil domain containing 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC6provided by HGNC
Official Full Name: coiled-coil domain containing 6provided by HGNC
Primary source: HGNC:HGNC:18782
See related: Ensembl:ENSG00000108091 MIM:601985; AllianceGenome:HGNC:18782
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: H4; PTC; TPC; PTC1; TST1; D10S170
Summary: This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]
Expression: Ubiquitous expression in esophagus (RPKM 21.3), brain (RPKM 15.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q21.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (59788747..59906556, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (60642477..60761263, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (61548505..61666314, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

CCDC6-RET fusion protein regulates Ras/MAPK signaling through the fusion- GRB2-SHC1 signal niche.
Title: CCDC6-RET fusion protein regulates Ras/MAPK signaling through the fusion- GRB2-SHC1 signal niche.
Competitive binding of circCCDC6 to microRNA-128-3p activates TXNIP/NLRP3 pathway and promotes cerebral ischemia-reperfusion defects.
Title: Competitive binding of circCCDC6 to microRNA-128-3p activates TXNIP/NLRP3 pathway and promotes cerebral ischemia-reperfusion defects.
RET rearrangements are relevant to histopathologic subtypes and clinicopathological features in Thai papillary thyroid carcinoma patients.
Title: RET rearrangements are relevant to histopathologic subtypes and clinicopathological features in Thai papillary thyroid carcinoma patients.
The circ_FAM53B-miR-183-5p-CCDC6 axis modulates the malignant behaviors of papillary thyroid carcinoma cells.
Title: The circ_FAM53B-miR-183-5p-CCDC6 axis modulates the malignant behaviors of papillary thyroid carcinoma cells.
Suppression of CCDC6 sensitizes tumor to oncolytic virus M1.
Title: Suppression of CCDC6 sensitizes tumor to oncolytic virus M1.
we propose CCDC6 as a biomarker of drugs sensitivity for MPMs. In case of MPMs expressing low levels of CCDC6 the addition of olaparib to cisplatinum and pemetrexed is expected to be highly beneficial. In case of MPMs expressing normal CCDC6 levels the sensitivity to olaparib can be restored by the addition of P5091.
Title: Analysis of CCDC6 as a novel biomarker for the clinical use of PARP1 inhibitors in malignant pleural mesothelioma.
Results demonstrate that CCDC6 is a direct target of miR-146b which downregulates CCDC6 expression in papillary thyroid cancer (PTC). Also, CCDC6 expression correlates with clinicopathological parameters and exerts significant diagnostic and prognostic value in patients with PTC.
Title: MicroRNA-146b-5p as an oncomiR promotes papillary thyroid carcinoma development by targeting CCDC6.
The identification of two clusters of patients based on CCDC6 and USP7 expession can possibly indicate the use of PARP-inhibitor drugs.
Title: CCDC6 and USP7 expression levels suggest novel treatment options in high-grade urothelial bladder cancer.
FGFR inhibitors, particularly BGJ398, are therapeutic options for cholangiocarcinoma patients harboring FGFR2-CCDC6 fusions.
Title: Antitumor effect of FGFR inhibitors on a novel cholangiocarcinoma patient derived xenograft mouse model endogenously expressing an FGFR2-CCDC6 fusion protein.
Our findings nevertheless suggest that CCDC6-RET fusions identified by multiplex testing are potential targets for nintedanib therapy.
Title: Genome sequencing for nonsmall-cell lung cancer identifies a basis for nintedanib sensitivity.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S170E (e-PCR)
- UniSTS:473361

D10S1283E (e-PCR)
- UniSTS:151320

SHGC-82279 (e-PCR)
- UniSTS:104226

RH121376 (e-PCR)
- UniSTS:134222

RH64866 (e-PCR)
- UniSTS:91368

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: coiled-coil domain-containing protein 6

Names: papillary thyroid carcinoma-encoded protein; transforming sequence, thyroid-1

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.