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PAX4 paired box 4 [ Homo sapiens (human) ]

Gene ID: 5078, updated on 13-Apr-2024

Summary

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Official Symbol
PAX4provided by HGNC
Official Full Name
paired box 4provided by HGNC
Primary source
HGNC:HGNC:8618
See related
Ensembl:ENSG00000106331 MIM:167413; AllianceGenome:HGNC:8618
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
mouse all
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Genomic context

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See PAX4 in Genome Data Viewer
Location:
7q32.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (127610292..127618142, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (128921978..128929835, complement)
105.20220307 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 H3K4me1 hESC enhancer GRCh37_chr7:127249495-127249995 Neighboring gene PAX4 5' regulatory region Neighboring gene fascin actin-bundling protein 3 Neighboring gene ADP ribosylation factor 5 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:127291844-127292462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26588 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:127305706-127306528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26589 Neighboring gene SND1 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:127343327-127343826 Neighboring gene staphylococcal nuclease and tudor domain containing 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:127366923-127367714 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:127375481-127375695 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:127438882-127439229 Neighboring gene CD2 cytoplasmic tail binding protein 2 pseudogene

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. Pax4 in Health and Diabetes. Ko J, et al. Int J Mol Sci, 2023 May 5. PMID 37175989, Free PMC Article
  2. Ethnic-Specific Type 2 Diabetes Risk Factor PAX4 R192H Is Associated with Attention-Specific Cognitive Impairment in Chinese with Type 2 Diabetes. Ang SF, et al. J Alzheimers Dis, 2022. PMID 35570489
  3. [Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity]. Melnikova AI, et al. Mol Biol (Mosk), 2020 Sep-Oct. PMID 33009794
  4. The rs10229583 polymorphism near paired box gene 4 is associated with gestational diabetes mellitus in Chinese women. Xu T, et al. J Int Med Res, 2018 Jan. PMID 28730907, Free PMC Article
  5. Exome-chip association analysis reveals an Asian-specific missense variant in PAX4 associated with type 2 diabetes in Chinese individuals. Cheung CY, et al. Diabetologia, 2017 Jan. PMID 27744525

See all (74) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development.
    Title: PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development.
  2. Pax4 in Health and Diabetes.
    Title: Pax4 in Health and Diabetes.
  3. Ethnic-Specific Type 2 Diabetes Risk Factor PAX4 R192H Is Associated with Attention-Specific Cognitive Impairment in Chinese with Type 2 Diabetes.
    Title: Ethnic-Specific Type 2 Diabetes Risk Factor PAX4 R192H Is Associated with Attention-Specific Cognitive Impairment in Chinese with Type 2 Diabetes.
  4. Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.
    Title: Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.
  5. Transcription factor PAX4 facilitates gastric cancer progression through interacting with miR-27b-3p/Grb2 axis.
    Title: Transcription factor PAX4 facilitates gastric cancer progression through interacting with miR-27b-3p/Grb2 axis.
  6. [Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity].
    Title: [Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity].
  7. genetic association studies in population in Republic of Korea: Data suggest that SNPs in PAX4 and GLP1R are associated with type 2 diabetes (T2D) in the population studied. In genome-wide associations, PAX4 Arg192His increased risk of T2D; GLP1R Arg131Gln decreased risk of T2D. (PAX4 = paired box 4 protein; GLP1R = glucagon-like peptide 1 receptor)
    Title: Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population.
  8. The rs10229583 polymorphism near PAX4 is associated with gestational diabetes mellitus in Chinese women.
    Title: The rs10229583 polymorphism near paired box gene 4 is associated with gestational diabetes mellitus in Chinese women.
  9. Study identified the association of a PAX4 Asian-specific missense variant rs2233580 with type 2 diabetes in an exome-chip association analysis, supporting the involvement of PAX4 in the pathogenesis of type 2 diabetes.
    Title: Exome-chip association analysis reveals an Asian-specific missense variant in PAX4 associated with type 2 diabetes in Chinese individuals.
  10. Viability of beta-cell was reduced under glucotoxic stress condition for the cells overexpressing either PAX4 R192H or PAX4 P321H or both. Thus these PAX4 polymorphisms may increase T2D risk by defective transcription regulation of target genes and/or decreased beta-cell survival in high glucose condition.
    Title: PAX4 R192H and P321H polymorphisms in type 2 diabetes and their functional defects.
Submit: New GeneRIF Correction See all GeneRIFs (43)

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

  • MGC129960

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
  
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 regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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

Genomic

  1. NG_012848.1 RefSeqGene

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

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC073934
    Consensus CDS
    CCDS94191.1
    UniProtKB/TrEMBL
    A0A1W2PPX4, A4D0Z1
    Related
    ENSP00000491782.1, ENST00000639438.3
    Conserved Domains (2) summary
    smart00351
    Location:5 → 129
    PAX; Paired Box domain
    pfam00046
    Location:174 → 226
    Homeobox; Homeobox domain

  2. NM_001366111.1 → NP_001353040.1  paired box protein Pax-4 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB008913, AC073934
    Consensus CDS
    CCDS94190.1
    UniProtKB/Swiss-Prot
    O43316, O95161, Q6B0H0
    UniProtKB/TrEMBL
    J3KPG0
    Related
    ENSP00000368014.4, ENST00000378740.6
    Conserved Domains (2) summary
    smart00351
    Location:5 → 129
    PAX; Paired Box domain
    pfam00046
    Location:174 → 226
    Homeobox; Homeobox domain

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_000007.14 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    128921978..128929835 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43316.1 GenPept UniProtKB/Swiss-Prot:O43316

Gene LinkOut

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