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 |
|---|---|---|---|
| RS2135820424 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes, Monogenic diabetes |
| RS2135832423 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135832426 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes, Monogenic diabetes |
| RS2135832456 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2135832527 | Health Risk | Pathogenic | — |
| RS2135832551 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2135832632 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young type 3, Monogenic diabetes |
| RS2135832668 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes, Monogenic diabetes |
| RS2135832685 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135832792 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135838920 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS2135839075 | Health Risk | Pathogenic | — |
| RS2135839997 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes, Monogenic diabetes |
| RS2135841224 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135841381 | Health Risk | Pathogenic | — |
| RS2135841756 | Health Risk | Pathogenic | — |
| RS2135842256 | Health Risk | Pathogenic | — |
| RS2135842335 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS2135842474 | Health Risk | Pathogenic | — |
| RS2135845255 | Health Risk | Pathogenic | — |
| RS2135845384 | Health Risk | Pathogenic | — |
| RS2135845908 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135845949 | Health Risk | Pathogenic | — |
| RS2135847417 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS2135847863 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2135850957 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young type 3, Monogenic diabetes |
| RS2135851223 | Health Risk | Pathogenic | — |
| RS2135851518 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135854451 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS2135854597 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499973550 | Health Risk | Pathogenic | — |
| RS2499973600 | Health Risk | Pathogenic | — |
| RS2499973970 | Health Risk | Pathogenic | — |
| RS2499987411 | Health Risk | Pathogenic | — |
| RS2499987520 | Health Risk | Pathogenic | — |
| RS2499987564 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499987775 | Health Risk | Pathogenic | — |
| RS2499987848 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2499988006 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young type 3 |
| RS2499995544 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499995569 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499995613 | Health Risk | Pathogenic | — |
| RS2499995666 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499995695 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499995717 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499995799 | Health Risk | Pathogenic | — |
| RS2499997569 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2499997754 | Health Risk | Pathogenic | — |
| RS2499998234 | Health Risk | Pathogenic | — |
| RS2499998274 | Health Risk | Pathogenic | — |