U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 100499483, updated on 8-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
CCDC180provided by HGNC
Official Full Name
coiled-coil domain containing 180provided by HGNC
Primary source
HGNC:HGNC:29303
See related
Ensembl:ENSG00000197816 AllianceGenome:HGNC:29303
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
9q22.33
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (97307337..97378751)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (109479282..109550710)
105.20220307 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 Sharpr-MPRA regulatory region 7929 Neighboring gene SUGT1 pseudogene 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:100033649-100034149 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:100057407-100057584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20098 Neighboring gene Sharpr-MPRA regulatory region 563 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100074371-100074871 Neighboring gene STRA6 like, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28659 Neighboring gene microRNA 1302-8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100148028-100148534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100148535-100149040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:100150291-100150855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28661 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:100161577-100161764 Neighboring gene uncharacterized LOC286359 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr9:100174359-100174860 and GRCh37_chr9:100174861-100175360 Neighboring gene tudor domain containing 7 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:100226535-100227734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28663

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Identification of novel genetic susceptibility loci for Behçet's disease using a genome-wide association study. Fei Y, et al. Arthritis Res Ther, 2009. PMID 19442274, Free PMC Article
  2. Identification of Coiled-Coil Domain-Containing Protein 180 and Leucine-Rich Repeat-Containing Protein 4 as Potential Immunohistochemical Markers for Liposarcoma Based on Proteomic Analysis Using Formalin-Fixed, Paraffin-Embedded Tissue. Aoyama T, et al. Am J Pathol, 2019 May. PMID 30790560
  3. Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra. Yu LR, et al. J Proteome Res, 2007 Nov. PMID 17924679
  4. The full-ORF clone resource of the German cDNA Consortium. Bechtel S, et al. BMC Genomics, 2007 Oct 31. PMID 17974005, Free PMC Article
  5. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. Vieira AR, et al. Genet Med, 2008 Sep. PMID 18978678, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. High CCDC180 expression is associated with Liposarcoma .
    Title: Identification of Coiled-Coil Domain-Containing Protein 180 and Leucine-Rich Repeat-Containing Protein 4 as Potential Immunohistochemical Markers for Liposarcoma Based on Proteomic Analysis Using Formalin-Fixed, Paraffin-Embedded Tissue.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 

General protein information

Go to the top of the page Help
Preferred Names
coiled-coil domain-containing protein 180
Names
Behcet's Disease Associated Gene 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001348010.4 → NP_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
    UniProtKB/TrEMBL
    B4DZK1
    Related
    ENST00000460482.6
    Conserved Domains (1) summary
    pfam14643
    Location:130 → 595
    DUF4455; Domain of unknown function (DUF4455)

  2. NM_020893.6 → NP_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
    CCDS35077.3
    UniProtKB/Swiss-Prot
    Q2KHR6, Q5VV25, Q68DP5, Q69YV9, Q6AHY0, Q9P1Z9
    UniProtKB/TrEMBL
    A0A6E1Y6F7
    Related
    ENSP00000434727.2, ENST00000529487.3
    Conserved Domains (2) summary
    pfam14643
    Location:130 → 598
    DUF4455; Domain of unknown function (DUF4455)
    pfam14644
    Location:1344 → 1548
    DUF4456; Domain of unknown function (DUF4456)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    109479282..109550710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P1Z9.3 GenPept UniProtKB/Swiss-Prot:Q9P1Z9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous