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C12orf50 chromosome 12 open reading frame 50 [ Homo sapiens (human) ]

Gene ID: 160419, updated on 2-Nov-2024

Summary

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Official Symbol
C12orf50provided by HGNC
Official Full Name
chromosome 12 open reading frame 50provided by HGNC
Primary source
HGNC:HGNC:26665
See related
Ensembl:ENSG00000165805 AllianceGenome:HGNC:26665
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 involved in poly(A)+ mRNA export from nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward testis (RPKM 10.2) See more
Orthologs
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Genomic context

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See C12orf50 in Genome Data Viewer
Location:
12q21.32
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (87980035..88030232, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (87961910..88012108, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (88373812..88423178, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:88214374-88215573 Neighboring gene growth arrest and DNA damage inducible alpha pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:88332854-88333495 Neighboring gene ribosomal protein S4X pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6698 Neighboring gene uncharacterized LOC107984542 Neighboring gene RNA 5'-phosphate and 3'-OH ligase 1 Neighboring gene centrosomal protein 290

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. The global gene-expression profiles of U-937 human macrophages treated with Tat peptide and Tat-FITC conjugate. Lin CW, et al. J Drug Target, 2012 Jul. PMID 22632162
  2. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. Goldstein JI, et al. Nat Commun, 2014 Sep 4. PMID 25187353, Free PMC Article
  3. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat 47-59 peptide downregulates gene expression of chromosome 12 open reading frame 50 (C12orf50) in U-937 macrophages PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ35821

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in poly(A)+ mRNA export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
uncharacterized protein C12orf50

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_001363616.2 → NP_001350545.1  uncharacterized protein C12orf50 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC090060, AC091516
    Consensus CDS
    CCDS86321.1
    UniProtKB/TrEMBL
    F8VSD7
    Related
    ENSP00000448344.1, ENST00000550553.5
    Conserved Domains (1) summary
    pfam15663
    Location:1 → 45
    zf-CCCH_3; Zinc-finger containing family

  2. NM_152589.3 → NP_689802.1  uncharacterized protein C12orf50 isoform 1

    See identical proteins and their annotated locations for NP_689802.1

    Status: VALIDATED

    Source sequence(s)
    AC090060, AC091516, AK093140
    Consensus CDS
    CCDS9031.1
    UniProtKB/Swiss-Prot
    Q6P674, Q8NA57
    Related
    ENSP00000298699.2, ENST00000298699.7
    Conserved Domains (1) summary
    pfam15663
    Location:1 → 45
    zf-CCCH_3; Zinc-finger containing family

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
    87980035..88030232 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018888.3 → XP_016874377.2  uncharacterized protein C12orf50 isoform X4

  2. XM_017018886.3 → XP_016874375.2  uncharacterized protein C12orf50 isoform X2

    Conserved Domains (1) summary
    pfam15663
    Location:9 → 92
    zf-CCCH_3; Zinc-finger containing family

  3. XM_024448865.2 → XP_024304633.2  uncharacterized protein C12orf50 isoform X1

  4. XM_024448866.2 → XP_024304634.1  uncharacterized protein C12orf50 isoform X5

    UniProtKB/Swiss-Prot
    Q6P674, Q8NA57
    Conserved Domains (1) summary
    pfam15663
    Location:1 → 45
    zf-CCCH_3; Zinc-finger containing family

  5. XM_024448868.2 → XP_024304636.1  uncharacterized protein C12orf50 isoform X7

    Conserved Domains (1) summary
    pfam15663
    Location:1 → 45
    zf-CCCH_3; Zinc-finger containing family

  6. XM_017018887.2 → XP_016874376.1  uncharacterized protein C12orf50 isoform X3

  7. XM_011537985.2 → XP_011536287.1  uncharacterized protein C12orf50 isoform X6

    See identical proteins and their annotated locations for XP_011536287.1

    Related
    ENST00000551944.1
    Conserved Domains (1) summary
    pfam15663
    Location:5 → 97
    zf-CCCH_3; Zinc-finger containing family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    87961910..88012108 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371235.1 → XP_054227210.1  uncharacterized protein C12orf50 isoform X4

  2. XM_054371233.1 → XP_054227208.1  uncharacterized protein C12orf50 isoform X2

  3. XM_054371232.1 → XP_054227207.1  uncharacterized protein C12orf50 isoform X1

  4. XM_054371236.1 → XP_054227211.1  uncharacterized protein C12orf50 isoform X5

    UniProtKB/Swiss-Prot
    Q6P674, Q8NA57

  5. XM_054371238.1 → XP_054227213.1  uncharacterized protein C12orf50 isoform X7

  6. XM_054371234.1 → XP_054227209.1  uncharacterized protein C12orf50 isoform X3

  7. XM_054371237.1 → XP_054227212.1  uncharacterized protein C12orf50 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NA57.1 GenPept UniProtKB/Swiss-Prot:Q8NA57

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