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    C4orf19 chromosome 4 open reading frame 19 [ Homo sapiens (human) ]

    Gene ID: 55286, updated on 5-Mar-2024

    Summary

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    Official Symbol
    C4orf19provided by HGNC
    Official Full Name
    chromosome 4 open reading frame 19provided by HGNC
    Primary source
    HGNC:HGNC:25618
    See related
    Ensembl:ENSG00000154274 AllianceGenome:HGNC:25618
    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
    Located in cell junction and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in colon (RPKM 5.5), stomach (RPKM 4.2) and 18 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See C4orf19 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (37453255..37593510)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (37421994..37562645)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (37455547..37595132)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78898 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78906 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78938 Neighboring gene microRNA 4801 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78969 Neighboring gene NACHT and WD repeat domain containing 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15347 Neighboring gene Sharpr-MPRA regulatory region 2247 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:37442795-37443994 Neighboring gene uncharacterized LOC124900691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37541047-37541547 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:37562271-37562772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37591458-37591958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37591959-37592459 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:37608503-37609142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37636677-37637177 Neighboring gene RELT like 1 Neighboring gene HNF4 motif-containing MPRA enhancer 255 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:37655185-37655838 Neighboring gene Sharpr-MPRA regulatory region 2227 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:37667691-37668890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15349 Neighboring gene uncharacterized LOC105374404 Neighboring gene uncharacterized LOC105374406

    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. C4orf19 inhibits colorectal cancer cell proliferation by competitively binding to Keap1 with TRIM25 via the USP17/Elk-1/CDK6 axis. Huang S, et al. Oncogene, 2023 Apr. PMID 36882524
    2. Down-regulated C4orf19 confers poor prognosis in colon adenocarcinoma identified by gene co-expression network. Wang W, et al. J Cancer, 2022. PMID 35281862, Free PMC Article
    3. Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis. Baranzini SE, et al. Brain, 2010 Sep. PMID 20802204, Free PMC Article
    4. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article
    5. 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

    See all (16) 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
    Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
    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

    • FLJ11017

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C4orf19

    NCBI Reference Sequences (RefSeq)

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    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_001104629.2 → NP_001098099.1  uncharacterized protein C4orf19

      See identical proteins and their annotated locations for NP_001098099.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC022463, AC027607, AI050941, AK225192, CF995148, DA684897
      Consensus CDS
      CCDS3442.1
      UniProtKB/Swiss-Prot
      Q8IY42, Q9NV03
      Related
      ENSP00000371408.4, ENST00000381980.9
      Conserved Domains (1) summary
      pfam15770
      Location:9 → 314
      DUF4699; Domain of unknown function (DUF4699)

    2. NM_018302.3 → NP_060772.2  uncharacterized protein C4orf19

      See identical proteins and their annotated locations for NP_060772.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC027607, AI050941, AK001879, AK225192, BP220791
      Consensus CDS
      CCDS3442.1
      UniProtKB/Swiss-Prot
      Q8IY42, Q9NV03
      Related
      ENSP00000284437.6, ENST00000284437.6
      Conserved Domains (1) summary
      pfam15770
      Location:9 → 314
      DUF4699; Domain of unknown function (DUF4699)

    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
      37453255..37593510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513713.3 → XP_011512015.1  uncharacterized protein C4orf19 isoform X1

      See identical proteins and their annotated locations for XP_011512015.1

      UniProtKB/Swiss-Prot
      Q8IY42, Q9NV03
      Conserved Domains (1) summary
      pfam15770
      Location:9 → 314
      DUF4699; Domain of unknown function (DUF4699)

    2. XM_011513712.3 → XP_011512014.1  uncharacterized protein C4orf19 isoform X1

      See identical proteins and their annotated locations for XP_011512014.1

      UniProtKB/Swiss-Prot
      Q8IY42, Q9NV03
      Conserved Domains (1) summary
      pfam15770
      Location:9 → 314
      DUF4699; Domain of unknown function (DUF4699)

    3. XM_047415896.1 → XP_047271852.1  uncharacterized protein C4orf19 isoform X1

      UniProtKB/Swiss-Prot
      Q8IY42, Q9NV03

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      37421994..37562645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350390.1 → XP_054206365.1  uncharacterized protein C4orf19 isoform X1

    2. XM_054350389.1 → XP_054206364.1  uncharacterized protein C4orf19 isoform X1

    3. XM_054350391.1 → XP_054206366.1  uncharacterized protein C4orf19 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IY42.1 GenPept UniProtKB/Swiss-Prot:Q8IY42

    Gene LinkOut

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

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