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    C12orf71 chromosome 12 open reading frame 71 [ Homo sapiens (human) ]

    Gene ID: 728858, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C12orf71provided by HGNC
    Official Full Name
    chromosome 12 open reading frame 71provided by HGNC
    Primary source
    HGNC:HGNC:34452
    See related
    Ensembl:ENSG00000214700 AllianceGenome:HGNC:34452
    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
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See C12orf71 in Genome Data Viewer
    Location:
    12p11.23
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (27081057..27084127, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (26953119..26956189, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (27233990..27237060, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4307 Neighboring gene transmembrane 7 superfamily member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6131 Neighboring gene MPRA-validated peak1625 silencer Neighboring gene mediator complex subunit 21 Neighboring gene nontranscribed chromatin-defined enhancer upstream of C12orf71 Neighboring gene liprin-beta-1-like Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6135 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:27366569-27367070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6143 Neighboring gene Sharpr-MPRA regulatory region 14756 Neighboring gene serine/threonine kinase 38 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6144 Neighboring gene MPRA-validated peak1626 silencer Neighboring gene uncharacterized LOC124902905

    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. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    General gene information

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    Homology

    General protein information

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    Preferred Names
    uncharacterized protein C12orf71

    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.

    mRNA and Protein(s)

    1. NM_001080406.2 → NP_001073875.1  uncharacterized protein C12orf71

      See identical proteins and their annotated locations for NP_001073875.1

      Status: VALIDATED

      Source sequence(s)
      AC092747
      Consensus CDS
      CCDS44851.1
      UniProtKB/Swiss-Prot
      A8MTZ7
      Related
      ENSP00000413728.2, ENST00000429849.3
      Conserved Domains (1) summary
      pfam15480
      Location:25 → 261
      DUF4640; Domain of unknown function (DUF4640)

    2. NM_001384983.1 → NP_001371912.1  uncharacterized protein C12orf71

      Status: VALIDATED

      Source sequence(s)
      AC092747
      Consensus CDS
      CCDS44851.1
      UniProtKB/Swiss-Prot
      A8MTZ7
      Conserved Domains (1) summary
      pfam15480
      Location:25 → 261
      DUF4640; Domain of unknown function (DUF4640)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      27081057..27084127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      26953119..26956189 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MTZ7.3 GenPept UniProtKB/Swiss-Prot:A8MTZ7

    Gene LinkOut

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

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    Research Materials