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C4orf50 chromosome 4 open reading frame 50 [ Homo sapiens (human) ]

Gene ID: 389197, updated on 23-Nov-2021

Summary

Official Symbol
C4orf50provided by HGNC
Official Full Name
chromosome 4 open reading frame 50provided by HGNC
Primary source
HGNC:HGNC:33766
See related
Ensembl:ENSG00000181215
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
Biased expression in brain (RPKM 1.2), adrenal (RPKM 0.1) and 2 other tissues See more
Orthologs
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Genomic context

See C4orf50 in Genome Data Viewer
Location:
4p16.2-p16.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (5897591..6018762, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (5958837..6020273, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene EvC ciliary complex subunit 2 Neighboring gene EvC ciliary complex subunit 1 Neighboring gene collapsin response mediator protein 1 Neighboring gene microRNA 378d-1 Neighboring gene janus kinase and microtubule interacting protein 1 Neighboring gene uncharacterized LOC105374364 Neighboring gene JAKMIP1 divergent transcript

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
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
GeneReviews: Not available

General gene information

Markers

Homology

Clone Names

  • FLJ30895, FLJ45310, FLJ46481, DKFZp686I0747

General protein information

Preferred Names
uncharacterized protein C4orf50

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_001364689.2NP_001351618.1  uncharacterized protein C4orf50 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC092442
    Related
    ENSP00000437121.2, ENST00000531445.3
    Conserved Domains (2) summary
    pfam15030
    Location:12341506
    DUF4527; Protein of unknown function (DUF4527)
    cl25732
    Location:44302
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001364690.2NP_001351619.1  uncharacterized protein C4orf50 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC092442
    Conserved Domains (2) summary
    pfam15030
    Location:10551327
    DUF4527; Protein of unknown function (DUF4527)
    cl25732
    Location:739956
    SMC_N; RecF/RecN/SMC N terminal domain

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    5897591..6018762 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008891.1XP_016864380.1  uncharacterized protein C4orf50 isoform X1

    Conserved Domains (2) summary
    pfam15030
    Location:10551327
    DUF4527; Protein of unknown function (DUF4527)
    cl25732
    Location:739956
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_017008892.1XP_016864381.1  uncharacterized protein C4orf50 isoform X1

    Conserved Domains (2) summary
    pfam15030
    Location:10551327
    DUF4527; Protein of unknown function (DUF4527)
    cl25732
    Location:739956
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_017008893.1XP_016864382.1  uncharacterized protein C4orf50 isoform X2

  4. XM_011513604.2XP_011511906.1  uncharacterized protein C4orf50 isoform X4

    See identical proteins and their annotated locations for XP_011511906.1

    Conserved Domains (1) summary
    pfam15030
    Location:7971067
    DUF4527; Protein of unknown function (DUF4527)
  5. XM_011513603.2XP_011511905.1  uncharacterized protein C4orf50 isoform X4

    See identical proteins and their annotated locations for XP_011511905.1

    Conserved Domains (1) summary
    pfam15030
    Location:7971067
    DUF4527; Protein of unknown function (DUF4527)
  6. XM_017008894.1XP_016864383.1  uncharacterized protein C4orf50 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_207405.1: Suppressed sequence

    Description
    NM_207405.1: This RefSeq was permanently suppressed because the CDS was partial.
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