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

    Gene ID: 389197, updated on 5-Mar-2024

    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
    mouse all
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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_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (5897587..6018546, complement)
    RS_2023_10 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 OCT4-NANOG hESC enhancer GRCh37_chr4:5593995-5594527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5595317-5595818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5595819-5596318 Neighboring gene EvC ciliary complex subunit 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:5610365-5610542 Neighboring gene NANOG hESC enhancer GRCh37_chr4:5613379-5613880 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:5641443-5642642 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:5666069-5667268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5710226-5710845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5754671-5755626 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:5760129-5761328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5774979-5775720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5774235-5774978 Neighboring gene EvC ciliary complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21246 Neighboring gene NANOG hESC enhancer GRCh37_chr4:5876470-5876991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5888332-5888859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5888860-5889386 Neighboring gene collapsin response mediator protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5891930-5892674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5892675-5893418 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:5914348-5914973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5923869-5924368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5926351-5926851 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5932940-5933440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5947182-5947682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5957977-5958528 Neighboring gene microRNA 378d-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15225 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5972715-5973525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5975147-5975708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5975709-5976269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5995614-5996166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5996167-5996718 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:6050907-6052106 Neighboring gene uncharacterized LOC128125818 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6073591-6074520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6071730-6072660 Neighboring gene janus kinase and microtubule interacting protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6087461-6088334 Neighboring gene NANOG hESC enhancer GRCh37_chr4:6089664-6090166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6093535-6094036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6107415-6107947 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6118271-6118786 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:6118787-6119302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6119819-6120334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6142439-6142940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6192917-6193537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21258 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15228 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

    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
      ENSP00000518823.1, ENST00000711657.1
      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_10

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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