Format

Send to:

Choose Destination

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

Gene ID: 160419, updated on 5-Jan-2022

Summary

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
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 enable mRNA binding activity. Predicted to be involved in poly(A)+ mRNA export from nucleus. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Restricted expression toward testis (RPKM 10.2) See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See C12orf50 in Genome Data Viewer
Location:
12q21.32
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (87980035..88030212, complement)
105.20201022 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 growth arrest and DNA damage inducible alpha pseudogene 1 Neighboring gene ribosomal protein S4X pseudogene 15 Neighboring gene uncharacterized LOC107984542 Neighboring gene chromosome 12 open reading frame 29 Neighboring gene centrosomal protein 290

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
GeneReviews: Not available

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35821

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

Preferred Names
uncharacterized protein C12orf50

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001363616.2NP_001350545.1  uncharacterized protein C12orf50 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC090060, AC091516
    Consensus CDS
    CCDS86321.1
    Related
    ENSP00000448344.1, ENST00000550553.5
    Conserved Domains (1) summary
    pfam15663
    Location:145
    zf-CCCH_3; Zinc-finger containing family
  2. NM_152589.3NP_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
    Q8NA57
    Related
    ENSP00000298699.2, ENST00000298699.7
    Conserved Domains (1) summary
    pfam15663
    Location:145
    zf-CCCH_3; Zinc-finger containing family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    87980035..88030212 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018886.2XP_016874375.2  uncharacterized protein C12orf50 isoform X2

    Conserved Domains (1) summary
    pfam15663
    Location:992
    zf-CCCH_3; Zinc-finger containing family
  2. XM_024448865.1XP_024304633.1  uncharacterized protein C12orf50 isoform X1

    Conserved Domains (1) summary
    pfam15663
    Location:145
    zf-CCCH_3; Zinc-finger containing family
  3. XM_017018888.2XP_016874377.1  uncharacterized protein C12orf50 isoform X4

    UniProtKB/TrEMBL
    F8VSD7
    Conserved Domains (1) summary
    pfam15663
    Location:145
    zf-CCCH_3; Zinc-finger containing family
  4. XM_024448866.1XP_024304634.1  uncharacterized protein C12orf50 isoform X1

    Conserved Domains (1) summary
    pfam15663
    Location:145
    zf-CCCH_3; Zinc-finger containing family
  5. XM_024448868.1XP_024304636.1  uncharacterized protein C12orf50 isoform X6

    Conserved Domains (1) summary
    pfam15663
    Location:145
    zf-CCCH_3; Zinc-finger containing family
  6. XM_017018887.1XP_016874376.1  uncharacterized protein C12orf50 isoform X3

  7. XM_011537985.1XP_011536287.1  uncharacterized protein C12orf50 isoform X5

    See identical proteins and their annotated locations for XP_011536287.1

    Related
    ENST00000551944.1
    Conserved Domains (1) summary
    pfam15663
    Location:597
    zf-CCCH_3; Zinc-finger containing family
Support Center