PAX4 (paired box 4)

2003-06-01  

Identity

HGNC
PAX4
LOCATION
7q32.1
LOCUSID
5078
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
371759892023Pax4 in Health and Diabetes.2
377775362023PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development.3
371759892023Pax4 in Health and Diabetes.2
377775362023PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development.3
351083812022Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.13
355704892022Ethnic-Specific Type 2 Diabetes Risk Factor PAX4 R192H Is Associated with Attention-Specific Cognitive Impairment in Chinese with Type 2 Diabetes.0
351083812022Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.13
355704892022Ethnic-Specific Type 2 Diabetes Risk Factor PAX4 R192H Is Associated with Attention-Specific Cognitive Impairment in Chinese with Type 2 Diabetes.0
341627612021Transcription factor PAX4 facilitates gastric cancer progression through interacting with miR-27b-3p/Grb2 axis.2
341627612021Transcription factor PAX4 facilitates gastric cancer progression through interacting with miR-27b-3p/Grb2 axis.2
330097942020[Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity].0
330097942020[Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity].0
287309072018The rs10229583 polymorphism near paired box gene 4 is associated with gestational diabetes mellitus in Chinese women.1
299414472018Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population.21
287309072018The rs10229583 polymorphism near paired box gene 4 is associated with gestational diabetes mellitus in Chinese women.1

Citation

Dessen P

PAX4 (paired box 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41643/pax4-(paired-box-4)