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 |
|---|---|---|---|
| RS2135841113 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135841238 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young type 3 |
| RS2135841315 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135841512 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135841592 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young type 3, Monogenic diabetes |
| RS2135841769 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes, Monogenic diabetes |
| RS2135841855 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135842812 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2135847311 | Health Risk | Likely pathogenic | 6 conditions, 6 conditions |
| RS2135847490 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2135847592 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS2135848297 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2135851715 | Health Risk | Likely pathogenic | HNF1A-related disorder, HNF1A-related disorder |
| RS2135854397 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135854461 | Health Risk | Likely pathogenic | Keratoderma-ichthyosis-deafness syndrome, autosomal recessive, Monogenic diabetes |
| RS2135854520 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135854670 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499987472 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS2499987474 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499987570 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499987661 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499987988 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499995510 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499995670 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2499995743 | Health Risk | Likely pathogenic | HNF1A-related disorder, HNF1A-related disorder |
| RS2499998409 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2500001387 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2500002688 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2500002756 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS2500009433 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2500009853 | Health Risk | Likely pathogenic | — |
| RS2500009918 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS2500010393 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2500010501 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS386134267 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS587778399 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS760640415 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS762703502 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS765432081 | Health Risk | Likely pathogenic | Diabetes mellitus, Monogenic diabetes, Maturity-onset diabetes of the young type 3 |
| RS768753432 | Health Risk | Likely pathogenic | Diabetes mellitus, Diabetes mellitus |
| RS769086289 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young type 3, 6 conditions |
| RS775893674 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS780298807 | Health Risk | Likely pathogenic | — |
| RS886039386 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young type 3 |
| RS886039544 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Monogenic diabetes |
| RS905788991 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS1593058338 | Health Risk | Likely pathogenic/Likely risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1265717222 | Health Risk | Likely risk allele | Type 2 diabetes mellitus, Maturity-onset diabetes of the young, Type 2 diabetes mellitus |
| RS1426548804 | Health Risk | Likely risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1565880245 | Health Risk | Likely risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |