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    C17orf67 chromosome 17 open reading frame 67 [ Homo sapiens (human) ]

    Gene ID: 339210, updated on 10-Dec-2024

    Summary

    Official Symbol
    C17orf67provided by HGNC
    Official Full Name
    chromosome 17 open reading frame 67provided by HGNC
    Primary source
    HGNC:HGNC:27900
    See related
    Ensembl:ENSG00000214226 AllianceGenome:HGNC:27900
    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
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 1.1), endometrium (RPKM 0.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See C17orf67 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (56791913..56833920, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (57668072..57711152, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (54869274..54911281, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L39 pseudogene 33 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8738 Neighboring gene MPRA-validated peak2904 silencer Neighboring gene noggin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:54715538-54716038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:54716039-54716539 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:54776085-54777284 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8739 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:54863850-54865049 Neighboring gene Sharpr-MPRA regulatory region 13836 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:54911171-54911768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:54912368-54912965 Neighboring gene uncharacterized LOC124904036 Neighboring gene NANOG hESC enhancer GRCh37_chr17:54914856-54915411 Neighboring gene uncharacterized LOC124904037 Neighboring gene diacylglycerol kinase epsilon Neighboring gene RNA, U6 small nuclear 1158, pseudogene

    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
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    uncharacterized protein C17orf67

    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.

    Genomic

    1. NG_054932.1 RefSeqGene

      Range
      5071..47078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001085430.4NP_001078899.2  uncharacterized protein C17orf67 precursor

      See identical proteins and their annotated locations for NP_001078899.2

      Status: VALIDATED

      Source sequence(s)
      AC106858, BC041467, BU075516
      Consensus CDS
      CCDS42364.2
      UniProtKB/Swiss-Prot
      Q0P5P2
      Related
      ENSP00000380959.2, ENST00000397861.7
      Conserved Domains (1) summary
      pfam15076
      Location:1790
      DUF4543; Domain of unknown function (DUF4543)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      56791913..56833920 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      57668072..57711152 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)