PDX1 Chromosome 13
Pancreatic and duodenal homeobox 1
Upload your DNA to see your personal genotypes for variants in PDX1.
What This Gene Does
The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
HOXL subclass homeoboxes
Locus Type
gene with protein product
Location
13q12.2
Ensembl
ENSG00000139515
Associated Conditions (12)
Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 4
Monogenic diabetes
Maturity-onset diabetes of the young
Diabetes mellitus type 2
susceptibility to
Pancreatic hypoplasia
Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus
Pancreatic agenesis 1
Neonatal diabetes mellitus
PDX1-related disorder
Permanent neonatal diabetes mellitus
Key Variants
RS137852783
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 4, Monogenic diabetes
Health Risk
RS137852787
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 4, Monogenic diabetes, Type 2 diabetes mellitus
Health Risk
RS143517122
Conflicting classifications of pathogenicity
Pancreatic hypoplasia, Pancreatic hypoplasia
Health Risk
RS1445970498
Conflicting classifications of pathogenicity
Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus, Maturity-onset diabetes of the young, Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus
Health Risk
RS192902098
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 4, Type 2 diabetes mellitus, Monogenic diabetes
Health Risk
RS193922351
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 4, Maturity-onset diabetes of the young type 4
Health Risk
RS193922357
Conflicting classifications of pathogenicity
Neonatal diabetes mellitus, Maturity-onset diabetes of the young type 4, Monogenic diabetes
Health Risk
RS193922358
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 4, Pancreatic hypoplasia, PDX1-related disorder
Health Risk
RS193922360
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 4, Type 2 diabetes mellitus, Pancreatic agenesis 1
Health Risk
RS193929377
Conflicting classifications of pathogenicity
Permanent neonatal diabetes mellitus, Pancreatic agenesis 1, Maturity-onset diabetes of the young type 4
Health Risk
RS199644078
Conflicting classifications of pathogenicity
Monogenic diabetes, Maturity-onset diabetes of the young type 4, Pancreatic hypoplasia
Health Risk
RS564129447
Conflicting classifications of pathogenicity
Pancreatic agenesis 1, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 4
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137852783 | Health Risk | Conflicting classifications of pathogenicity | Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 4, Monogenic diabetes |
| RS137852787 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 4, Monogenic diabetes, Type 2 diabetes mellitus |
| RS143517122 | Health Risk | Conflicting classifications of pathogenicity | Pancreatic hypoplasia, Pancreatic hypoplasia |
| RS1445970498 | Health Risk | Conflicting classifications of pathogenicity | Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus, Maturity-onset diabetes of the young, Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus |
| RS192902098 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 4, Type 2 diabetes mellitus, Monogenic diabetes |
| RS193922351 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 4, Maturity-onset diabetes of the young type 4 |
| RS193922357 | Health Risk | Conflicting classifications of pathogenicity | Neonatal diabetes mellitus, Maturity-onset diabetes of the young type 4, Monogenic diabetes |
| RS193922358 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 4, Pancreatic hypoplasia, PDX1-related disorder |
| RS193922360 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 4, Type 2 diabetes mellitus, Pancreatic agenesis 1 |
| RS193929377 | Health Risk | Conflicting classifications of pathogenicity | Permanent neonatal diabetes mellitus, Pancreatic agenesis 1, Maturity-onset diabetes of the young type 4 |
| RS199644078 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Maturity-onset diabetes of the young type 4, Pancreatic hypoplasia |
| RS564129447 | Health Risk | Conflicting classifications of pathogenicity | Pancreatic agenesis 1, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 4 |
| RS752633548 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS753249965 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 4, Maturity-onset diabetes of the young type 4 |
| RS754817283 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 4, Pancreatic agenesis 1, Type 2 diabetes mellitus |
| RS75498935 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS797045885 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS930365498 | Health Risk | Conflicting classifications of pathogenicity | Type 2 diabetes mellitus, Pancreatic agenesis 1, Maturity-onset diabetes of the young type 4 |
| RS1555241857 | Health Risk | Likely pathogenic | Pancreatic agenesis 1, Maturity-onset diabetes of the young type 4, Pancreatic agenesis 1 |
| RS1566025668 | Health Risk | Likely pathogenic | — |
| RS1566025744 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 4, Maturity-onset diabetes of the young type 4 |
| RS193922355 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 4, Maturity-onset diabetes of the young type 4 |
| RS193922356 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 4, Maturity-onset diabetes of the young type 4 |
| RS2500206217 | Health Risk | Likely pathogenic | PDX1-related disorder, PDX1-related disorder |
| RS2500206718 | Health Risk | Likely pathogenic | PDX1-related disorder, PDX1-related disorder |
| RS2500206807 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 4 |
| RS387906777 | Health Risk | Pathogenic | Pancreatic agenesis 1, Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young type 4 |
| RS80356662 | Health Risk | Pathogenic | Pancreatic agenesis 1, Pancreatic agenesis 1 |
| RS80356661 | Health Risk | Pathogenic; risk factor | Pancreatic agenesis 1, Diabetes mellitus type 2, susceptibility to |
| RS137852786 | Health Risk | risk factor | Diabetes mellitus type 2, susceptibility to, Diabetes mellitus type 2 |
| RS1188694060 | Health Risk | Uncertain risk allele | Pancreatic hypoplasia, Pancreatic hypoplasia |
| RS1457762802 | Health Risk | Uncertain risk allele | Pancreatic hypoplasia, Pancreatic hypoplasia |
| RS757558416 | Health Risk | Uncertain risk allele | Pancreatic hypoplasia, Pancreatic hypoplasia |
| RS1179554814 | Health Risk | Uncertain significance/Uncertain risk allele | Pancreatic hypoplasia, Maturity-onset diabetes of the young, Pancreatic hypoplasia |