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PAX4 paired box 4 [ Homo sapiens (human) ]

Gene ID: 5078, updated on 1-Jun-2020

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

Genomic context

See PAX4 in Genome Data Viewer
Location:
7q32.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (127610292..127618142, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (127250346..127255982, 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 type 2
MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
Compare labs
Diabetes mellitus, ketosis-prone
MedGen: C3837958 OMIM: 612227 GeneReviews: Not available
Compare labs
Maturity-onset diabetes of the young type 9 Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near PAX4.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
NHGRI GWA Catalog

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

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
endocrine pancreas development TAS
Traceable Author Statement
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
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)

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.

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.
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