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CCDC180 coiled-coil domain containing 180 [ Homo sapiens (human) ]

Gene ID: 100499483, updated on 5-Jan-2022

Summary

Official Symbol
CCDC180provided by HGNC
Official Full Name
coiled-coil domain containing 180provided by HGNC
Primary source
HGNC:HGNC:29303
See related
Ensembl:ENSG00000197816
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
FAP76; CFAP76; C9orf174
Summary
The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet's Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]
Expression
Biased expression in testis (RPKM 16.4), lung (RPKM 2.5) and 8 other tissues See more
Orthologs
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Genomic context

See CCDC180 in Genome Data Viewer
Location:
9q22.33
Exon count:
39
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (97307337..97378751)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (100069619..100141033)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 18C, pseudogene Neighboring gene SUGT1P4-STRA6LP-CCDC180 readthrough Neighboring gene SUGT1P4-STRA6LP readthrough Neighboring gene SUGT1 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 563 Neighboring gene STRA6 like, pseudogene Neighboring gene microRNA 1302-8 Neighboring gene uncharacterized LOC105376167 Neighboring gene uncharacterized LOC286359

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41397, FLJ50036, KIAA1529, DKFZp434I2420, DKFZp686B2031, DKFZp686G1725

General protein information

Preferred Names
coiled-coil domain-containing protein 180
Names
Behcet's Disease Associated Gene 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_052792.1 RefSeqGene

    Range
    5356..76448
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001348010.4NP_001334939.2  coiled-coil domain-containing protein 180 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences compared to variant 1. These differences result in distinct 5' and 3' UTRs, and a novel 3' coding region. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL512590
    Related
    ENST00000460482.6
    Conserved Domains (1) summary
    pfam14643
    Location:130595
    DUF4455; Domain of unknown function (DUF4455)
  2. NM_020893.6NP_065944.3  coiled-coil domain-containing protein 180 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL512590
    Consensus CDS
    CCDS35077.2
    Related
    ENSP00000434727.2, ENST00000529487.3
    Conserved Domains (2) summary
    pfam14643
    Location:130598
    DUF4455; Domain of unknown function (DUF4455)
    pfam14644
    Location:13441548
    DUF4456; Domain of unknown function (DUF4456)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    97307337..97378751
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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