PAX4 - paired box 4 Gene

Also Known as KPD; MODY9

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5078

About PAX4

Cytogenetic location: 7q32.1 Genomic coordinates (GRCh38): 7:127,610,292-127,618,142 (from NCBI)

This gene has 7 transcripts (splice variants), 107 orthologues, 50 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

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]

PAX4 Products (2)

mRNA Protein Name
NM_001366110.1 NP_001353039.1 paired box protein Pax-4 isoform 1
NM_001366111.1 NP_001353040.1 paired box protein Pax-4 isoform 2
Molecular Function GO Annotation Evidence References Source
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PAX4 Protein Structure

PAX

PAX: 'Paired box' domain (1 - 121)

Homeobox

Homeobox: Homeobox domain (164 - 219)

  • 0
  • 100
  • 200
  • 300
  • 343 a.a.
Protein Preferred Names Protein Names

paired box protein Pax-4

  • paired box gene 4

PAX4 Antibodies

Cat. No. Product Name Application Reactivity
HY-P85316 Pax-4 Antibody (YA5008) WB, ELISA Human

Related Diseases

Diseases Alias
Maturity-Onset Diabetes Of The Young, Type 9
  • Maturity-Onset Diabetes Of The Young Type 9

  • MODY9

  • Maturity-Onset Diabetes Of The Young, Type Ix

  • Maturity-Onset Diabetes Of The Young 9

  • Mody-9

  • Mody Type 9

  • Diabetes Of The Young, Maturity-Onset, Type 9

Diabetes Mellitus, Ketosis-Prone
  • Diabetic Ketoacidosis

  • KPD

  • Diabetes Mellitus, Ketosis-Prone, Susceptibility To

  • Ketosis-Prone Diabetes Mellitus

  • Diabetes Mellitus, Insulin-Dependent

  • Diabetic Ketoacidosis Nos

  • Dka - [Diabetic Ketoacidosis] Nos

  • Dka - [Diabetic Ketoacidosis] Without Coma

  • Dka - [Diabetic Ketoacidosis] With Coma

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Maturity-Onset Diabetes Of The Young
  • MODY

  • Maturity Onset Diabetes Mellitus In Young

  • Mason-Type Diabetes

  • Mason Type Diabetes

  • Maturity Onset Diabetes Of The Young

  • Mody Syndrome

  • Diabetes Of The Young, Maturity-Onset

Maturity-Onset Diabetes Of The Young, Type 7
  • Maturity-Onset Diabetes Of The Young Type 7

  • MODY7

  • Maturity-Onset Diabetes Of The Young, Type Vii

  • Maturity-Onset Diabetes Of The Young 7

  • Mody-7

  • Mody Type 7

  • Diabetes Of The Young, Maturity-Onset, Type 7

Insulinoma
  • Islet Cell Adenoma

  • Insulin-Producing Tumor Of Islet Cells

  • Adenoma Islet Cell

  • Islet Cell Tumor

  • Experimental Organism Islet Cell Adenoma Neoplasm

Maturity-Onset Diabetes Of The Young, Type 13
  • Maturity-Onset Diabetes Of The Young Type 13

  • MODY13

  • Mody Type 13

  • Mody, Type 13

  • Maturity-Onset Diabetes Of The Young 13

  • Diabetes Of The Young, Maturity-Onset, Type 13

Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
  • Maturity-Onset Diabetes Of The Young Type 8

  • MODY8

  • Dped

  • Maturity-Onset Diabetes Of The Young, Type Viii

  • Mody Type 8

  • Diabetes And Pancreatic Exocrine Dysfunction

  • Diabetes-Pancreatic Exocrine Dysfunction Syndrome

  • Diabetes And Pancreatic Exocrine

  • Maturity-Onset Diabetes Of The Young Type 8 With Exocrine Dysfunction

  • Maturity-Onset Diabetes Of The Young 8 With Exocrine Dysfunction

  • Diabetes And Pancreatic Exocrine Dysfunction Syndrome

  • Mody-8

  • Diabetes Of The Young, Maturity-Onset, Type 8

Maturity-Onset Diabetes Of The Young, Type 14
  • Maturity-Onset Diabetes Of The Young Type 14

  • MODY14

  • Maturity-Onset Diabetes Of The Young 14

  • Diabetes Of The Young, Maturity-Onset, Type 14

Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent

  • Diabetes Mellitus Type 1

  • IDDM

  • Type 1 Diabetes

  • Insulin-Dependent Diabetes Mellitus

  • T1D

  • Juvenile-Onset Diabetes

  • Jod

  • Diabetes Mellitus, Type 1

  • Diabetes Mellitus, Insulin-Dependent-1

  • Type I Diabetes Mellitus

  • Autoimmune Diabetes

  • Juvenile Diabetes

  • Juvenile-Onset Diabetes Mellitus

  • Diabetes, Insulin Dependent

  • Insulin-Dependent Diabetes Mellitus-1

  • Diabetes Mellitus Insulin-Dependent

  • Diabetes Autoimmune

  • Diabetes Mellitus, Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 1, Susceptibility To

  • Diabetes Type 1

  • Type I Diabetes

  • Diabetes, Autoimmune

  • T1dm - [Type 1 Diabetes Mellitus]

  • Iddm - [Insulin Dependent Diabetes Mellitus]

  • Type 1 Iddm

  • Juvenile Diabetes Mellitus Without Compications

  • Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

  • Juvenile-Onset Diabetes Mellitus Without Compications

  • Ketosis-Prone Diabetes Mellitus Without Compications

  • Juvenile-Onset-Type Diabetes Mellitus Without Compications

Maturity-Onset Diabetes Of The Young, Type 11
  • Maturity-Onset Diabetes Of The Young Type 11

  • MODY11

  • Maturity-Onset Diabetes Of The Young 11

  • Mody-11

  • Mody Type 11

  • Diabetes Of The Young, Maturity-Onset, Type 11

Maturity-Onset Diabetes Of The Young, Type 6
  • MODY6

  • Maturity-Onset Diabetes Of The Young Type 6

  • Maturity-Onset Diabetes Of The Young 6

  • Mody Type 6

  • Mody, Type 6

  • Mody-6

  • Diabetes Of The Young, Maturity-Onset, Type 6

Maturity-Onset Diabetes Of The Young, Type 10
  • Maturity-Onset Diabetes Of The Young Type 10

  • MODY10

  • Maturity-Onset Diabetes Of The Young 10

  • Mody-10

  • Mody Type 10

  • Diabetes Of The Young, Maturity-Onset, Type 10

Maturity-Onset Diabetes Of The Young, Type 4
  • Maturity-Onset Diabetes Of The Young Type 4

  • MODY4

  • Mody, Type Iv

  • Mody Type 4

  • Mody, Type 4

  • Maturity-Onset Diabetes Of The Young 4

  • Mody-4

  • Diabetes Of The Young, Maturity-Onset, Type 4

  • Maturity-Onset Diabetes Of The Young, Type Iv

Acute Serous Otitis Media
  • Acute Non-Suppurative Otitis Media - Serous

  • Acute Transudative Otitis Media

Hyperglycemia
Diabetes Mellitus
  • Diabetes

Maturity-Onset Diabetes Of The Young, Type 1
  • Maturity-Onset Diabetes Of The Young Type 1

  • MODY1

  • Mild Juvenile Diabetes Mellitus

  • Mody, Type I

  • Diabetes Mellitus Type 2

  • Mody Type 1

  • Mody, Type 1

  • Maturity-Onset Diabetes Of The Young 1

  • Mody-1

  • Diabetes Of The Young, Maturity-Onset, Type 1

Maturity-Onset Diabetes Of The Young, Type 3
  • Maturity-Onset Diabetes Of The Young Type 3

  • MODY3

  • Mody, Type Iii

  • Mody Type 3

  • Mody, Type 3

  • Maturity-Onset Diabetes Of The Young 3

  • Mody-3

  • Diabetes Of The Young, Maturity-Onset, Type 3

Maturity-Onset Diabetes Of The Young, Type 2
  • Maturity-Onset Diabetes Of The Young Type 2

  • MODY2

  • Mody Glucokinase-Related

  • Mody Type 2

  • Mody, Type 2

  • Mody, Glucokinase-Related

  • Mody, Type Ii

  • Maturity-Onset Diabetes Of The Young 2

  • Mody-2

  • Diabetes Of The Young, Maturity-Onset, Type 2

  • Diabetes Mellitus Autosomal Dominant Type Ii

Renal Cysts And Diabetes Syndrome
  • RCAD

  • Mody5

  • Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

  • Cakut With Diabetes

  • Maturity-Onset Diabetes Of The Young Type 5

  • Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

  • Adtkd3

  • Atypical Familial Juvenile Hyperuricemic Nephropathy

  • Atypical Fjhn

  • Familial Hypoplastic Glomerulocystic Kidney

  • Maturity-Onset Diabetes Of The Young, Type 5

  • Hyperuricemic Nephropathy, Familial Juvenile, Atypical

  • Fjhn, Atypical

  • Glomerulocystic Kidney Disease, Hypoplastic Type

  • Glomerulocystic Kidney, Familial Hypoplastic

  • Hypoplastic Type Glomerulocystic Kidney Disease

  • Glomerulocystic Kidney Disease Hypoplastic Type

  • Renal-Diabetes Mody5 Syndrome

Pancreatic Agenesis
  • Partial Pancreatic Agenesis

  • Congenital Pancreatic Agenesis

  • Partial Agenesis Of The Pancreas

  • Agenesis, Pancreatic

  • Pancreatic Agenesis, Congenital

Neonatal Diabetes
  • Neonatal Diabetes Mellitus

  • Diabetes Mellitus Syndrome In Newborn Infant

  • Ndm

Permanent Neonatal Diabetes Mellitus
  • Pndm

  • Permanent Diabetes Mellitus Of Infancy

  • Pdmi

  • Neonatal Diabetes Mellitus, Permanent

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PAX4 RGD RGD:620433
Canis familiaris PAX4 VGNC VGNC:82938
Bos taurus PAX4 VGNC VGNC:53663
Felis catus PAX4 VGNC VGNC:68699
Mus musculus PAX4 MGD MGI:97488
Macaca mulatta PAX4 VGNC VGNC:75763
Others PAX4 NCBI