Free for academic non-profit institutions. Other users need a Commercial license
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 Regulation of beta-cell development and Hepatic ABC Transporters. 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:0000977 | RNA polymerase II regulatory region 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 | IBA,IDA | 16297991 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 15355349 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005667 | transcription factor complex | IEA | -- |
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 Cells and Lineage-specific Markers |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0001714 | endodermal cell fate specification | IEA | -- |
GO:0001822 | kidney development | IMP | 10720943 |
GO:0001826 | inner cell mass cell differentiation | IEA | -- |
GO:0001889 | liver development | 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 |
---|---|---|---|---|---|
635574 | Pathogenic: Renal cysts and diabetes syndrome | 37,687,394(-) | T/A | SPLICE_ACCEPTOR_VARIANT | |
635575 | Likely Pathogenic: Renal cysts and diabetes syndrome | 37,699,089(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
635576 | Uncertain Significance: Renal cysts and diabetes syndrome | 37,699,119(-) | G/T | MISSENSE_VARIANT,INTRON_VARIANT | |
635577 | Pathogenic: Renal cysts and diabetes syndrome | 37,699,167(-) | T/TG | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
635578 | Uncertain Significance: Renal cysts and diabetes syndrome | 37,699,189(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT |
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 |
|
|
diabetes mellitus, noninsulin-dependent |
|
|
hyperuricemic nephropathy, familial juvenile, 3 |
|
|
unilateral multicystic dysplastic kidney |
|
|