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

    Gene ID: 55286, updated on 28-Oct-2024

    Summary

    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
    Expression
    Broad expression in colon (RPKM 5.5), stomach (RPKM 4.2) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See C4orf19 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (37453255..37593510)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (37421994..37562645)
    RS_2024_09 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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

    Description
    Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    uncharacterized protein C4orf19

    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_001104629.2NP_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:9314
      DUF4699; Domain of unknown function (DUF4699)
    2. NM_018302.3NP_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:9314
      DUF4699; Domain of unknown function (DUF4699)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_011513713.3XP_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:9314
      DUF4699; Domain of unknown function (DUF4699)
    2. XM_011513712.3XP_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:9314
      DUF4699; Domain of unknown function (DUF4699)
    3. XM_047415896.1XP_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_054350390.1XP_054206365.1  uncharacterized protein C4orf19 isoform X1

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

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