KLF11 Chromosome 2
KLF transcription factor 11
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What This Gene Does
The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
Gene Info
Gene Group
"Zinc fingers C2H2-type|KLF transcription factors"
Locus Type
gene with protein product
Location
2p25.1
Ensembl
ENSG00000172059
Associated Conditions (3)
Maturity-onset diabetes of the young type 7
Monogenic diabetes
KLF11-related disorder
Key Variants
RS121912645
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7
Health Risk
RS142266428
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7
Health Risk
RS144431930
Conflicting classifications of pathogenicity
Monogenic diabetes, Maturity-onset diabetes of the young type 7, Monogenic diabetes
Health Risk
RS199624763
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7
Health Risk
RS200094318
Conflicting classifications of pathogenicity
Health Risk
RS370236540
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7
Health Risk
RS587780378
Conflicting classifications of pathogenicity
Health Risk
RS752588055
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7
Health Risk
RS781433096
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 7, KLF11-related disorder, Maturity-onset diabetes of the young type 7
Health Risk
RS868399686
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7
Health Risk
RS933412369
Conflicting classifications of pathogenicity
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121912645 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7 |
| RS142266428 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7 |
| RS144431930 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Maturity-onset diabetes of the young type 7, Monogenic diabetes |
| RS199624763 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7 |
| RS200094318 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370236540 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7 |
| RS587780378 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752588055 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7 |
| RS781433096 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 7, KLF11-related disorder, Maturity-onset diabetes of the young type 7 |
| RS868399686 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7 |
| RS933412369 | Health Risk | Conflicting classifications of pathogenicity | — |