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    CCDC167 coiled-coil domain containing 167 [ Homo sapiens (human) ]

    Gene ID: 154467, updated on 27-Nov-2024

    Summary

    Official Symbol
    CCDC167provided by HGNC
    Official Full Name
    coiled-coil domain containing 167provided by HGNC
    Primary source
    HGNC:HGNC:21239
    See related
    Ensembl:ENSG00000198937 AllianceGenome:HGNC:21239
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSPC265; C6orf129
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 11.9), testis (RPKM 9.5) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CCDC167 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (37482938..37499893, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (37306479..37323454, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (37450714..37467669, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:37335886-37337085 Neighboring gene RNA, 7SL, cytoplasmic 273, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7630 Neighboring gene ring finger protein 8 Neighboring gene uncharacterized LOC107986531 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:37400679-37401180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17140 Neighboring gene cap methyltransferase 1 Neighboring gene MPRA-validated peak5792 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:37427605-37428259 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:37448259-37448959 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37456899-37457744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37480625-37481226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37481227-37481828 Neighboring gene long intergenic non-protein coding RNA 2520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37483099-37483883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37483884-37484668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24462 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:37487335-37487506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37504191-37504738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37513395-37514004 Neighboring gene uncharacterized LOC124901312

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC131656

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 167
    Names
    transmembrane and coiled-coil domain-containing protein C6orf129

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_138493.3NP_612502.1  coiled-coil domain-containing protein 167

      See identical proteins and their annotated locations for NP_612502.1

      Status: VALIDATED

      Source sequence(s)
      BC108655
      Consensus CDS
      CCDS34441.1
      UniProtKB/Swiss-Prot
      Q5T7F7, Q9BTQ9, Q9P0B6
      Related
      ENSP00000362507.3, ENST00000373408.4
      Conserved Domains (1) summary
      pfam15188
      Location:1192
      CCDC-167; Coiled-coil domain-containing protein 167

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      37482938..37499893 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      37306479..37323454 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)