PAX4 (paired box 4)

2003-06-01  

Identity

HGNC
LOCATION
7q32.1
LOCUSID
ALIAS
KPD,MODY9

Other Information

Locus ID:

NCBI: 5078
MIM: 167413
HGNC: 8618
Ensembl: ENSG00000106331

Variants:

dbSNP: 5078
ClinVar: 5078
TCGA: ENSG00000106331
COSMIC: PAX4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106331ENST00000338516A0A0A0MRB6
ENSG00000106331ENST00000341640O43316
ENSG00000106331ENST00000378740J3KPG0
ENSG00000106331ENST00000611453Q3KNR5
ENSG00000106331ENST00000639438A0A1W2PPX4

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Maturity onset diabetes of the youngKEGGko04950
Maturity onset diabetes of the youngKEGGhsa04950
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cellsREACTOMER-HSA-210746

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443886Diabetes MellitusDiseaseClinicalAnnotationassociatedPD
PA443890Diabetes Mellitus, Type 2DiseaseClinicalAnnotationassociatedPD24752311
PA451234repaglinideChemicalClinicalAnnotationassociatedPD
PA451283rosiglitazoneChemicalClinicalAnnotationassociatedPD24752311

References

Pubmed IDYearTitleCitations
155965432004The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets.50
174260992007PAX4 mutations in Thais with maturity onset diabetes of the young.34
174260992007PAX4 mutations in Thais with maturity onset diabetes of the young.34
155095902004PAX4 gene variations predispose to ketosis-prone diabetes.28
156503232004The gene Pax4 is an essential regulator of pancreatic beta-cell development.28
251519652015Transcriptional control of PAX4-regulated miR-144/451 modulates metastasis by suppressing ADAMs expression.23
117230722001A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.18
179890642008The diabetes-linked transcription factor Pax4 is expressed in human pancreatic islets and is activated by mitogens and GLP-1.15
183350542008PAX4 enhances beta-cell differentiation of human embryonic stem cells.14
158345482005Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity.12

Citation

Dessen P

PAX4 (paired box 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41643/pax4