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    ERICH4 glutamate rich 4 [ Homo sapiens (human) ]

    Gene ID: 100170765, updated on 8-Mar-2024

    Summary

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    Official Symbol
    ERICH4provided by HGNC
    Official Full Name
    glutamate rich 4provided by HGNC
    Primary source
    HGNC:HGNC:34497
    See related
    Ensembl:ENSG00000204978 AllianceGenome:HGNC:34497
    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
    Also known as
    C19orf69
    Expression
    Biased expression in duodenum (RPKM 9.8), small intestine (RPKM 9.5) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ERICH4 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41443156..41444765)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44264400..44266009)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41949061..41950670)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10667 Neighboring gene VISTA enhancer hs1948 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 Neighboring gene distal membrane arm assembly component 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14682 Neighboring gene uncharacterized LOC107985329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14683 Neighboring gene prostate cancer associated transcript 19

    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. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
    2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    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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    Homology

    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
    glutamate-rich protein 4

    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_001130514.3 → NP_001123986.1  glutamate-rich protein 4

      See identical proteins and their annotated locations for NP_001123986.1

      Status: VALIDATED

      Source sequence(s)
      AC011526
      Consensus CDS
      CCDS46085.1
      UniProtKB/Swiss-Prot
      A6NGS2
      Related
      ENSP00000367429.2, ENST00000378187.3
      Conserved Domains (1) summary
      pfam15039
      Location:1 → 111
      DUF4530; Domain of unknown function (DUF4530)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      41443156..41444765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026119.2 → XP_016881608.1  glutamate-rich protein 4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      44264400..44266009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319461.1 → XP_054175436.1  glutamate-rich protein 4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NGS2.2 GenPept UniProtKB/Swiss-Prot:A6NGS2

    Gene LinkOut

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