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

Gene ID: 8030, updated on 19-Apr-2015
Official Symbol
CCDC6provided by HGNC
Official Full Name
coiled-coil domain containing 6provided by HGNC
Primary source
HGNC:HGNC:18782
See related
Ensembl:ENSG00000108091; HPRD:09064; MIM:601985; Vega:OTTHUMG00000018284
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; 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]
Orthologs
See CCDC6 in MapViewer
Location:
10q21
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (59788747..59906656, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (61548505..61666414, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 16, member 9 Neighboring gene myoregulin Neighboring gene long intergenic non-protein coding RNA 1553 Neighboring gene ankyrin 3, node of Ranvier (ankyrin G) Neighboring gene ADP-ribosylation factor-like 4 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Papillary thyroid carcinoma
MedGen: C0238463 OMIM: 188550 GeneReviews: Not available
Compare labs
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • RB in Cancer, organism-specific biosystem (from WikiPathways)
    RB in Cancer, organism-specific biosystem
    RB in Cancer
  • Thyroid cancer, organism-specific biosystem (from KEGG)
    Thyroid cancer, organism-specific biosystemThyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cel...
  • Thyroid cancer, conserved biosystem (from KEGG)
    Thyroid cancer, conserved biosystemThyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cel...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ32286

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
coiled-coil domain-containing protein 6
Names
coiled-coil domain-containing protein 6
papillary thyroid carcinoma-encoded protein

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
    5001..122910
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005436.4NP_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/TrEMBL
    Q05CP8
    UniProtKB/Swiss-Prot
    Q16204
    Related
    ENSP00000263102, OTTHUMP00000019644, ENST00000263102, OTTHUMT00000048176
    Conserved Domains (3) summary
    pfam09755
    Location:52341
    DUF2046; Uncharacterized conserved protein H4 (DUF2046)
    cd00187
    Location:96330
    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 ...
    cl00259
    Location:118207
    Sm_like; Sm and related proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

    Range
    59788747..59906656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    61830646..61948180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)