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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
    mouse all
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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
    • 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)

    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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