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

    Gene ID: 100499483, updated on 5-May-2024

    Summary

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    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
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    Genomic context

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    See CCDC180 in Genome Data Viewer
    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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

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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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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_001348010.4 → 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.

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