HNF1A Chromosome 12
HNF1 homeobox A
Upload your DNA to see your personal genotypes for variants in HNF1A.
What This Gene Does
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
HNF class homeoboxes
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000135100
Associated Conditions (23)
Maturity-onset diabetes of the young type 3
Maturity-onset diabetes of the young
HNF1A-related disorder
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
6 conditions
Type 1 diabetes mellitus 20
Diabetes mellitus type 1
Monogenic diabetes
Ovarian cancer
Insulin-resistant diabetes mellitus
Hepatic adenomas
familial
Hepatocellular carcinoma
Hyperinsulinism due to HNF1A deficiency
Diabetes mellitus
Keratoderma-ichthyosis-deafness syndrome
autosomal recessive
Neoplasm
Neurofibromatosis
+3 more conditions
Key Variants
RS1026422272
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
Health Risk
RS1039479235
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, HNF1A-related disorder, Maturity-onset diabetes of the young
Health Risk
RS1039799815
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
Health Risk
RS1045819255
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
Health Risk
RS11065390
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
Health Risk
RS112986697
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
Health Risk
RS113111047
Conflicting classifications of pathogenicity
Health Risk
RS1169289
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Type 2 diabetes mellitus, Maturity-onset diabetes of the young
Health Risk
RS1288094664
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, 6 conditions, Maturity-onset diabetes of the young
Health Risk
RS1316999782
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
Health Risk
RS1374173552
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
Health Risk
RS137853242
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Type 1 diabetes mellitus 20
Health Risk
All Variants (356)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS193922598 | Health Risk | Likely risk allele | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young type 3 |
| RS1057520504 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young type 3 |
| RS1057520779 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS1057524908 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1172328722 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1180119907 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, HNF1A-related disorder |
| RS1249563793 | Health Risk | Pathogenic | Type 1 diabetes mellitus 20, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1364708195 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS137853236 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, 6 conditions, Monogenic diabetes |
| RS137853238 | Health Risk | Pathogenic | Type 1 diabetes mellitus 20, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS137853243 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS137853244 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1388926124 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS1432009039 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1447883891 | Health Risk | Pathogenic | — |
| RS1555210478 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1555211426 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1555211922 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1555212014 | Health Risk | Pathogenic | 6 conditions, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1555212248 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1555212363 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1555212396 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1555260207 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1565886545 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS1565887211 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1566092307 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS1566092470 | Health Risk | Pathogenic | Type 1 diabetes mellitus 20, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1592897526 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1593058831 | Health Risk | Pathogenic | — |
| RS1593060859 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Neoplasm |
| RS1876968297 | Health Risk | Pathogenic | HNF1A-related disorder, HNF1A-related disorder |
| RS1877175078 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS1877318758 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS1877324101 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS193922576 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS193922578 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS199890776 | Health Risk | Pathogenic | Diabetes mellitus, Diabetes mellitus |
| RS2135818776 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young type 3 |
| RS2135819325 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS2135819354 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819387 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819438 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819527 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819653 | Health Risk | Pathogenic | — |
| RS2135819670 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819704 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819834 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819895 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819929 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135820404 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes, Monogenic diabetes |