1. Gene
  2. PAX4 - paired box 4 Gene

PAX4 - paired box 4 Gene

Homo sapiens

Also known as KPD; MODY9

Gene ID: 5078 | Gene type: protein coding

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

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

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