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  3. PAX4

PAX4 (Paired box 4)

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The Function of PAX4

Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity.

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Protein names

Recommended name:

Paired box protein Pax-4

PAX4 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS10229583 (PAX4) ??
  2. RS2233578 (PAX4) ??

Top Gene-Substance Interactions

Substances That Increase PAX4

Substances Interaction Organism Category

Substances That Decrease PAX4

Substances Interaction Organism Category

Advanced Summary

     From NCBI Gene: Diabetes mellitus, ketosis-proneDiabetes mellitus type 2Maturity-onset diabetes of the young, type 9From UniProt: Diabetes mellitus, ketosis-prone (KPD): An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding. [MIM:612227] Diabetes mellitus, non-insulin-dependent (NIDDM): A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin . Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [MIM:125853] Diabetes mellitus, insulin-dependent (IDDM): A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [MIM:222100] Maturity-onset diabetes of the young 9 (MODY9): A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. [MIM:612225]

     From NCBI Gene: 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] From UniProt: Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • NF-kappaB
  • NF-kappaB1
  • Sox9

Gene Pathways:

  • Maturity onset diabetes of the young
  • Regulation of Beta-Cell Development

Molecular Function:

  • Dna Binding
  • Rna Polymerase Ii Distal Enhancer Sequence-Specific Dna Binding
  • Transcriptional Repressor Activity, Rna Polymerase Ii Distal Enhancer Sequence-Specific Binding

Biological Processes:

  • Animal Organ Morphogenesis
  • Cell Differentiation
  • Circadian Rhythm
  • Endocrine Pancreas Development
  • Negative Regulation Of Apoptotic Process
  • Positive Regulation Of Cell Differentiation
  • Response To Camp
  • Retina Development In Camera-Type Eye
  • Transcription, Dna-Templated
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| A306_01516| AS27_08491| CB1_000757039| D623_10010526| H920_09254| I79_003114| KPD| M91_17740| MDA_GLEAN10013104| MODY9| paired box gene 4| paired box protein Pax-4| Paired box protein Pax-4-like protein| paired domain gene 4| PAL_GLEAN10019170| Pax-4| Pax-4-like protein| Pax4 transcription factor| putative Pax-4-like protein| TREES_T100014618| UY3_13678| Y1Q_023757| Y956_08039| pax4

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