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

Gene ID: 8030, updated on 19-Sep-2024

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
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Genomic context

See CCDC6 in Genome Data Viewer
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_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2384 Neighboring gene solute carrier family 16 member 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:61521925-61522472 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:61529872-61530061 Neighboring gene NANOG hESC enhancer GRCh37_chr10:61549690-61550191 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:61562933-61563434 Neighboring gene Sharpr-MPRA regulatory region 6982 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:61607379-61608319 Neighboring gene myoregulin Neighboring gene Sharpr-MPRA regulatory region 3861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2387 Neighboring gene Sharpr-MPRA regulatory region 3982 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:61667949-61668742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2386 Neighboring gene long intergenic non-protein coding RNA 1553 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:61763136-61763882 Neighboring gene NANOG hESC enhancer GRCh37_chr10:61788258-61788759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3394 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:61889195-61889380 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:61889679-61890254 Neighboring gene ankyrin 3 Neighboring gene NANOG hESC enhancer GRCh37_chr10:62018096-62018597 Neighboring gene Sharpr-MPRA regulatory region 14495 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2388 Neighboring gene uncharacterized LOC124902430

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ32286

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 biological_process ND
No biological Data available
more info
 
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

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.

Genomic

  1. NG_027819.1 RefSeqGene

    Range
    5101..122910
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005436.5NP_005427.2  coiled-coil domain-containing protein 6

    See identical proteins and their annotated locations for NP_005427.2

    Status: REVIEWED

    Source sequence(s)
    AC060231, AK292593, BC022284, BM672399
    Consensus CDS
    CCDS7257.1
    UniProtKB/Swiss-Prot
    Q15250, Q16204, Q6GSG7
    Related
    ENSP00000263102.6, ENST00000263102.7
    Conserved Domains (1) summary
    pfam09755
    Location:52337
    DUF2046; Uncharacterized conserved protein H4 (DUF2046)

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    59788747..59906556 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    60642477..60761263 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)