Format

Send to:

Choose Destination
    • Showing Current items.

    PAX4 paired box 4 [ Homo sapiens (human) ]

    Gene ID: 5078, updated on 26-Jul-2021

    Summary

    Official Symbol
    PAX4provided by HGNC
    Official Full Name
    paired box 4provided by HGNC
    Primary source
    HGNC:HGNC:8618
    See related
    Ensembl:ENSG00000106331 MIM:167413
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KPD; MODY9
    Summary
    This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PAX4 in Genome Data Viewer
    Location:
    7q32.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (127610292..127618142, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (127250346..127258196, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375489 Neighboring gene PAX4 5' regulatory region Neighboring gene fascin actin-bundling protein 3 Neighboring gene ADP ribosylation factor 5 Neighboring gene staphylococcal nuclease and tudor domain containing 1 Neighboring gene CD2 cytoplasmic tail binding protein 2 pseudogene Neighboring gene uncharacterized LOC105375492 Neighboring gene SND1 intronic transcript 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Diabetes mellitus, ketosis-prone
    MedGen: C3837958 OMIM: 612227 GeneReviews: Not available
    Compare labs
    Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near PAX4.
    GeneReviews: Not available
    Maturity-onset diabetes of the young type 9 Compare labs
    Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
    GeneReviews: Not available
    Type 2 diabetes mellitus
    MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC129960

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    paired box protein Pax-4
    Names
    paired box gene 4
    paired domain gene 4

    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.

    Genomic

    1. NG_012848.1 RefSeqGene

      Range
      2585..10435
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001366110.1NP_001353039.1  paired box protein Pax-4 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC073934
      Related
      ENSP00000491782.1, ENST00000639438.3
      Conserved Domains (2) summary
      smart00351
      Location:5129
      PAX; Paired Box domain
      pfam00046
      Location:174226
      Homeobox; Homeobox domain
    2. NM_001366111.1NP_001353040.1  paired box protein Pax-4 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AB008913, AC073934
      Related
      ENSP00000368014.4, ENST00000378740.6
      Conserved Domains (2) summary
      smart00351
      Location:5129
      PAX; Paired Box domain
      pfam00046
      Location:174226
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      127610292..127618142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_006193.2: Suppressed sequence

      Description
      NM_006193.2: This RefSeq has been removed because currently there is insufficient support for the transcript.
    Support Center