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This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
HNF1B (HNF1 Homeobox B) is a Protein Coding gene. Diseases associated with HNF1B include Renal Cysts And Diabetes Syndrome and Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease. Among its related pathways are Type II diabetes mellitus and Regulation of beta-cell development. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is HNF1A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0000987 | proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IDA | 16297991 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 15355349 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of beta-cell development | ||
2 | Human Embryonic Stem Cell Pluripotency |
Factors Promoting Cardiogenesis in Vertebrates
.50
|
Human Embryonic Stem Cell Pluripotency
.50
|
3 | ERK Signaling |
MAPK Signaling
.58
|
ILK Signaling
.49
|
4 | Type II diabetes mellitus | ||
5 | Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001822 | kidney development | IMP | 10720943 |
GO:0001889 | liver development | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA,IBA | 21873635 |
GO:0009743 | response to carbohydrate | IEA | -- |
GO:0014070 | response to organic cyclic compound | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HNF1B 30 |
|
||
Cow (Bos Taurus) |
Mammalia | HNF1B 30 |
|
||
Dog (Canis familiaris) |
Mammalia | LOC610402 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hnf1b 30 17 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Hnf1b 30 |
|
||
Chicken (Gallus gallus) |
Aves | HNF1B 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hnf1b 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | tcf2-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hnf1ba 30 |
|
||
tcf2 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
12635 | Pathogenic: Renal cysts and diabetes syndrome | 37,739,455(-) |
G/A NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter) |
NONSENSE | |
12638 | Pathogenic: Renal cysts and diabetes syndrome | 37,744,584(-) |
C/A NM_000458.4(HNF1B):c.301G>T (p.Glu101Ter) |
NONSENSE | |
12640 | Pathogenic: Renal cysts and diabetes syndrome | 37,731,814(-) |
G/A NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter) |
NONSENSE | |
12641 | Conflicting Interpretations: Type 2 diabetes mellitus; Renal cysts and diabetes syndrome | 37,701,122(-) |
G/C NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg) |
MISSENSE_VARIANT,INTRON | |
12642 | Pathogenic: Renal cysts and diabetes syndrome | 37,710,653(-) |
G/GT NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter) |
NONSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2715892 | CNV | deletion | 23290073 |
esv2758688 | CNV | gain+loss | 17122850 |
esv3640501 | CNV | gain | 21293372 |
nsv833431 | CNV | gain | 17160897 |
nsv953888 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
renal cysts and diabetes syndrome |
|
|
hnf1b-related autosomal dominant tubulointerstitial kidney disease |
|
|
renal cell carcinoma, nonpapillary |
|
|
type 2 diabetes mellitus |
|
|
hyperuricemic nephropathy, familial juvenile, 3 |
|
|