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    C5orf67 chromosome 5 putative open reading frame 67 [ Homo sapiens (human) ]

    Gene ID: 101928448, updated on 17-Sep-2024

    Summary

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    Official Symbol
    C5orf67provided by HGNC
    Official Full Name
    chromosome 5 putative open reading frame 67provided by HGNC
    Primary source
    HGNC:HGNC:51252
    See related
    AllianceGenome:HGNC:51252
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See C5orf67 in Genome Data Viewer
    Location:
    5q11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (56511282..56606256, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (57339221..57434172, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (55807109..55902083, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:55810478-55810978 Neighboring gene ribosomal protein L26 pseudogene 19 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:55830028-55830580 Neighboring gene MPRA-validated peak5248 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22568 Neighboring gene VISTA enhancer hs1638 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:55933112-55933681 Neighboring gene Sharpr-MPRA regulatory region 489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:56052539-56053040 Neighboring gene growth/differentiation factor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22572 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16021 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16022 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:56112185-56113008 Neighboring gene Sharpr-MPRA regulatory region 15646 Neighboring gene NANOG hESC enhancer GRCh37_chr5:56121191-56121701 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86205 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:56139908-56140150 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:56146868-56147047 Neighboring gene mitogen-activated protein kinase kinase kinase 1 Neighboring gene uncharacterized LOC124901214

    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 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. Genetic Determinants of Clustering of Cardiometabolic Risk Factors in U.K. Biobank. Lind L. Metab Syndr Relat Disord, 2020 Apr. PMID 31928498
    2. Genome-wide association of body fat distribution in African ancestry populations suggests new loci. Liu CT, et al. PLoS Genet, 2013. PMID 23966867, Free PMC Article
    3. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. Randall JC, et al. PLoS Genet, 2013 Jun. PMID 23754948, Free PMC Article
    4. Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. Zheng JS, et al. PLoS One, 2013. PMID 24204828, Free PMC Article
    5. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Waterworth DM, et al. Arterioscler Thromb Vasc Biol, 2010 Nov. PMID 20864672, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
    EBI GWAS Catalog
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
    EBI GWAS Catalog
    Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
    EBI GWAS Catalog

    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

    General gene information

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    Homology

    Other Names

    • Uncharacterized protein C5orf67

    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.

    RNA

    1. NR_161255.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC022431

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      56511282..56606256 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      57339221..57434172 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001287053.1: Suppressed sequence

      Description
      NM_001287053.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    F2Z3F1.1 GenPept UniProtKB/Swiss-Prot:F2Z3F1

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials