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C12orf76 chromosome 12 open reading frame 76 [ Homo sapiens (human) ]

Gene ID: 400073, updated on 5-Mar-2024

Summary

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Official Symbol
C12orf76provided by HGNC
Official Full Name
chromosome 12 open reading frame 76provided by HGNC
Primary source
HGNC:HGNC:33790
See related
Ensembl:ENSG00000174456 AllianceGenome:HGNC:33790
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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 19.9), testis (RPKM 3.8) and 20 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
12q24.11
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110041177..110073635, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110016870..110049334, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110478982..110511440, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene GIT ArfGAP 2 Neighboring gene uncharacterized LOC124903013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6990 Neighboring gene Sharpr-MPRA regulatory region 2512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6991 Neighboring gene ankyrin repeat domain 13A Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110460576-110461076 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6992 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:110465819-110467018 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110480304-110480817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6995 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3588 Neighboring gene uncharacterized LOC105369976 Neighboring gene Sharpr-MPRA regulatory region 13461 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110546777-110547368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110547369-110547960 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4853 Neighboring gene intraflagellar transport 81 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110610112-110610892 Neighboring gene MPRA-validated peak1945 silencer

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. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11385, FLJ40142

General protein information

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Preferred Names
uncharacterized protein C12orf76

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_001389625.1 → NP_001376554.1  uncharacterized protein C12orf76 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC007546
    Consensus CDS
    CCDS91748.1
    UniProtKB/TrEMBL
    A0A087WX00
    Related
    ENSP00000480634.2, ENST00000615315.2

RNA

  1. NR_148514.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007546
    Related
    ENST00000687036.1

  2. NR_148515.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007546, BC046185
    Related
    ENST00000687999.1

  3. NR_148517.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007546, AK021447, BC046185

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
    110041177..110073635 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    110016870..110049334 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_207435.3: Suppressed sequence

    Description
    NM_207435.3: 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
Q8N812.1 GenPept UniProtKB/Swiss-Prot:Q8N812

Gene LinkOut

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

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