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

Gene ID: 389197, updated on 21-Mar-2023

Summary

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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 AllianceGenome:HGNC:33766
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

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See C4orf50 in Genome Data Viewer
Location:
4p16.2-p16.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (5897587..6018546, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (5869354..5991437, complement)
105.20220307 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 uncharacterized LOC124900166 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 JAKMIP1 divergent transcript

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. Isolation and characterization of 21 novel expressed DNA sequences from the distal region of human chromosome 4p. Ishida Y, et al. Genomics, 1994 Jul 15. PMID 7545969
  2. Ubiquitin ligase MARCH5 localizes to peroxisomes to regulate pexophagy. Zheng J, et al. J Cell Biol, 2022 Jan 3. PMID 34747980, Free PMC Article
  3. Genome-wide association study identifies loci affecting blood copper, selenium and zinc. Evans DM, et al. Hum Mol Genet, 2013 Oct 1. PMID 23720494, Free PMC Article
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (6) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ30895, FLJ45310, FLJ46481, DKFZp686I0747

General protein information

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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_001364689.3 → NP_001351618.1  uncharacterized protein C4orf50 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC092442
    Consensus CDS
    CCDS93473.1
    UniProtKB/TrEMBL
    E9PNW5
    Related
    ENSP00000437121.2, ENST00000531445.3
    Conserved Domains (2) summary
    pfam15030
    Location:1234 → 1506
    DUF4527; Protein of unknown function (DUF4527)
    cl25732
    Location:44 → 302
    SMC_N; RecF/RecN/SMC N terminal domain

  2. NM_001364690.2 → NP_001351619.1  uncharacterized protein C4orf50 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC092442
    Conserved Domains (2) summary
    pfam15030
    Location:1055 → 1327
    DUF4527; Protein of unknown function (DUF4527)
    cl25732
    Location:739 → 956
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    5897587..6018546 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008893.2 → XP_016864382.1  uncharacterized protein C4orf50 isoform X4

  2. XM_047415667.1 → XP_047271623.1  uncharacterized protein C4orf50 isoform X3

  3. XM_047415663.1 → XP_047271619.1  uncharacterized protein C4orf50 isoform X1

    UniProtKB/TrEMBL
    E9PNW5

  4. XM_047415664.1 → XP_047271620.1  uncharacterized protein C4orf50 isoform X1

    UniProtKB/TrEMBL
    E9PNW5

  5. XM_047415666.1 → XP_047271622.1  uncharacterized protein C4orf50 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    5869354..5991437 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349968.1 → XP_054205943.1  uncharacterized protein C4orf50 isoform X1

  2. XM_054349969.1 → XP_054205944.1  uncharacterized protein C4orf50 isoform X1

  3. XM_054349970.1 → XP_054205945.1  uncharacterized protein C4orf50 isoform X1

  4. XM_054349971.1 → XP_054205946.1  uncharacterized protein C4orf50 isoform X2

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZRC1.1 GenPept UniProtKB/Swiss-Prot:Q6ZRC1

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