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

Gene ID: 728858, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (27081057..27084127, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (26953119..26956189, complement)
105.20220307 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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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

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_2023_10

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

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