PAX4 Chromosome 7
Paired box 4
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What This Gene Does
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]
Gene Info
Gene Group
"PRD class homeoboxes and pseudogenes|Paired boxes"
Locus Type
gene with protein product
Location
7q32.1
Ensembl
ENSG00000106331
Associated Conditions (9)
Monogenic diabetes
Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 9
PAX4-related disorder
Maturity-onset diabetes of the young
Diabetes mellitus
ketosis-prone
susceptibility to
Hyperglycemia
Key Variants
RS112061448
Conflicting classifications of pathogenicity
Monogenic diabetes, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 9
Health Risk
RS114202595
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Maturity-onset diabetes of the young, Type 2 diabetes mellitus
Health Risk
RS114315130
Conflicting classifications of pathogenicity
Health Risk
RS143084654
Conflicting classifications of pathogenicity
Health Risk
RS144792551
Conflicting classifications of pathogenicity
Monogenic diabetes, PAX4-related disorder, Monogenic diabetes
Health Risk
RS2233583
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 9, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 9
Health Risk
RS35155575
Conflicting classifications of pathogenicity
Diabetes mellitus, ketosis-prone, susceptibility to
Health Risk
RS712701
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, Type 2 diabetes mellitus, Maturity-onset diabetes of the young
Health Risk
RS77039439
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112061448 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 9 |
| RS114202595 | Health Risk | Conflicting classifications of pathogenicity | Type 2 diabetes mellitus, Maturity-onset diabetes of the young, Type 2 diabetes mellitus |
| RS114315130 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143084654 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144792551 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, PAX4-related disorder, Monogenic diabetes |
| RS2233583 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 9, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 9 |
| RS35155575 | Health Risk | Conflicting classifications of pathogenicity | Diabetes mellitus, ketosis-prone, susceptibility to |
| RS712701 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Type 2 diabetes mellitus, Maturity-onset diabetes of the young |
| RS77039439 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |