PAX4 - paired box 4 Gene
Also Known as KPD; MODY9
Species: Homo sapiens
About PAX4
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 |
PAX4 Protein Structure
PAX: 'Paired box' domain (1 - 121)
Homeobox: Homeobox domain (164 - 219)
- 0
- 100
- 200
- 300
- 343 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
paired box protein Pax-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 |
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| Diabetes Mellitus, Ketosis-Prone |
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| Type 2 Diabetes Mellitus |
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| Maturity-Onset Diabetes Of The Young |
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| Maturity-Onset Diabetes Of The Young, Type 7 |
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| Insulinoma |
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| Maturity-Onset Diabetes Of The Young, Type 13 |
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| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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| Maturity-Onset Diabetes Of The Young, Type 14 |
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| Type 1 Diabetes Mellitus |
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| Maturity-Onset Diabetes Of The Young, Type 11 |
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| Maturity-Onset Diabetes Of The Young, Type 6 |
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| Maturity-Onset Diabetes Of The Young, Type 10 |
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| Maturity-Onset Diabetes Of The Young, Type 4 |
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| Acute Serous Otitis Media |
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| Hyperglycemia |
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| Diabetes Mellitus |
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| Maturity-Onset Diabetes Of The Young, Type 1 |
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| Maturity-Onset Diabetes Of The Young, Type 3 |
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| Maturity-Onset Diabetes Of The Young, Type 2 |
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| Renal Cysts And Diabetes Syndrome |
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| Pancreatic Agenesis |
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| Neonatal Diabetes |
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| Permanent Neonatal Diabetes Mellitus |
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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 |