HNF1B HNF1 homeobox B [Homo sapiens (human)] - Gene

Summary

Go to the top of the page Help

Official Symbol: HNF1Bprovided by HGNC
Official Full Name: HNF1 homeobox Bprovided by HGNC
Primary source: HGNC:11630
See related: Ensembl:ENSG00000108753; HPRD:08926; MIM:189907; Vega:OTTHUMG00000133123
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FJHN; HNF2; LFB3; TCF2; HPC11; LF-B3; MODY5; TCF-2; VHNF1; HNF-1B; HNF1beta
Summary: 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]

Genomic context

Go to the top of the page Help

Location :: 17q12

Sequence :: Chromosome: 17; NC_000017.10 (36046434..36105096, complement)

See HNF1B in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The diagnosis of ovarian carcinomas with clear cells can be made with greater accuracy by using the intensity and extent of immunoreactivity for HNF-1beta.
Title: Utility of hepatocyte nuclear factor-1β as a diagnostic marker in ovarian carcinomas with clear cells.
clinical presentation, imaging findings, genetic changes, and disease progression in 27 adults from 20 families with HNF1B nephropathy. Whole-gene deletion was found in 11 families, point mutations in 9, and de novo mutations in half of the kindred tested
Title: Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
HNF-1beta in endometriosis might be a factor that controls the cell cycle and DNA damage checkpoints. [review]
Title: A potential link of oxidative stress and cell cycle regulation for development of endometriosis.
No evidence that diabetes mediates the association of the HNF1B locus with prostate cancer risk from a mediation analysis of 9,065 prostate cancer cases and 9,526 controls.
Title: Association of type 2 diabetes susceptibility variants with advanced prostate cancer risk in the Breast and Prostate Cancer Cohort Consortium.
As compared to controls, no difference was observed in the urinary mRNA amount of HNF1B and the renal cystic genes
Title: Expression of renal cystic genes in patients with HNF1B mutations.
NUDT11, HNF1B, and SLC22A3 genes have roles in prostate cancer pathogenesis
Title: Genetic and functional analyses implicate the NUDT11, HNF1B, and SLC22A3 genes in prostate cancer pathogenesis.
One genomic HNF1beta mutation was detected in 3% of patients with prune belly syndrome but found to be functionally normal. Thus, functionally significant HNF1beta mutations are uncommon in prune belly syndrome, despite case reports of HNF1beta deletions
Title: Genetic basis of prune belly syndrome: screening for HNF1β gene.
Patients with the HNF-1beta mutation in Chinese diabetic patients with renal dysfunction can have different pancreatic and extrapancreatic phenotypes.
Title: Phenotypic heterogeneity in Chinese patients with hepatocyte nuclear factor-1β mutations.
HNF1B SNPs are associated with risk of endometrial cancer and the associated relative risks are similar for Type I and Type II tumors.
Title: HNF1B and endometrial cancer risk: results from the PAGE study.
In Japanese patients with pediatric-onset MODY-type diabetes, mutations in known genes were identified at a much higher frequency than previously reported for adult Asians.
Title: Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.

Submit: New GeneRIF Correction See all (104)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Familial hypoplastic, glomerulocystic kidney

MIM: 137920

Genetic Testing Registry

Renal cell carcinoma, nonpapillary

MIM: 144700

Genetic Testing Registry

NHGRI GWAS Catalog

Genetic correction of PSA values using sequence variants associated with PSA levels.

Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.

Genome-wide association study identifies a common variant associated with risk of endometrial cancer.

Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.

Genome-wide association study identifies new prostate cancer susceptibility loci.

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Source	Pubs	Description
P35680	P18846	ATF1	HPRD	PubMed
P35680	Q92793	CREBBP	HPRD	PubMed
P35680	P20823	HNF1A	HPRD	PubMed
BioGRID:112790	BioGRID:106956	ATF1	BioGRID	PubMed	Two-hybrid
BioGRID:112790	BioGRID:107775	CREB1	BioGRID	PubMed	Two-hybrid
BioGRID:112790	BioGRID:113946	HIST1H3A	BioGRID	PubMed	Reconstituted Complex
BioGRID:112790	BioGRID:112789	HNF1A	BioGRID	PubMed	Reconstituted Complex
BioGRID:112790	BioGRID:111125	PCBD1	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

Go to the top of the page Help

Developmental Biology, organism-specific biosystem (from REACTOME)
Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
Maturity onset diabetes of the young, conserved biosystem (from KEGG)
Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
Regulation of gene expression in early pancreatic precursor cells, organism-specific biosystem (from REACTOME)
Regulation of gene expression in early pancreatic precursor cells, organism-specific biosystemThe properties of transcriptional networks early in the differentiation of human pancreatic cells are inferred from the properties of well-studied networks in mouse models. In mice, the first visible...
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells, organism-specific biosystem (from REACTOME)
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells, organism-specific biosystemThe properties of transcriptional networks in late stage (branching morphogenesis) pancreatic bud precursor cells are inferred from the properties of well-studied networks in mouse models. In mice, c...

General gene information

Go to the top of the page Help

Markers

SHGC-79644 (e-PCR)
- UniSTS:101401

D17S1995 (e-PCR)
- UniSTS:74522

D17S1788 (e-PCR), detects polymorphism
- UniSTS:71451

G60393 (e-PCR)
- UniSTS:137499

Hnf1b (e-PCR), detects polymorphism
- UniSTS:506980

Hnf1b (e-PCR), detects polymorphism
- UniSTS:545949

RH76353 (e-PCR)
- UniSTS:91552

WI-7310 (e-PCR)
- UniSTS:29648

TCF2 (e-PCR)
- UniSTS:480211

Tcf2 (e-PCR), detects polymorphism
- UniSTS:233983

Genotypes

See HNF1B SNP Geneview Report
See HNF1B SNP Genotype Report
See HNF1B SNP Variation Viewer Report

Homology

Homologs of the HNF1B gene: The HNF1B gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	IDA Inferred from Direct Assay more info	PubMed
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
protein homodimerization activity	IEA Inferred from Electronic Annotation more info
protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
transcription regulatory region DNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
branching morphogenesis of an epithelial tube	IEA Inferred from Electronic Annotation more info
embryonic digestive tract morphogenesis	IEA Inferred from Electronic Annotation more info
endocrine pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
endocrine pancreas development	TAS Traceable Author Statement more info
endodermal cell fate specification	IEA Inferred from Electronic Annotation more info
epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
genitalia development	IMP Inferred from Mutant Phenotype more info	PubMed
hepatoblast differentiation	IEA Inferred from Electronic Annotation more info
hindbrain development	IEA Inferred from Electronic Annotation more info
inner cell mass cell differentiation	IEA Inferred from Electronic Annotation more info
insulin secretion	IEA Inferred from Electronic Annotation more info
kidney development	IDA Inferred from Direct Assay more info
kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
mesonephric duct formation	IEA Inferred from Electronic Annotation more info
negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
positive regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
positive regulation of transcription initiation from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
pronephric nephron tubule development	IGI Inferred from Genetic Interaction more info	PubMed
pronephros development	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of Wnt receptor signaling pathway	IEA Inferred from Electronic Annotation more info
regulation of branch elongation involved in ureteric bud branching	IEA Inferred from Electronic Annotation more info
regulation of endodermal cell fate specification	IEA Inferred from Electronic Annotation more info
regulation of pronephros size	IMP Inferred from Mutant Phenotype more info	PubMed
response to glucose stimulus	IEA Inferred from Electronic Annotation more info
ureteric bud elongation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
NOT nucleolus	IDA Inferred from Direct Assay more info
nucleus	IDA Inferred from Direct Assay more info
transcription factor complex	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: hepatocyte nuclear factor 1-beta

Names: hepatocyte nuclear factor 1-beta; HNF-1-beta; HNF1 beta A; homeoprotein LFB3; transcription factor 2, hepatic

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013019.1 RefSeqGene

Range

5001..63663

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000458.2 → NP_000449.1 hepatocyte nuclear factor 1-beta isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC091199, AI797324, BC017714, DC340648

Consensus CDS

CCDS11324.1

UniProtKB/Swiss-Prot

P35680

UniProtKB/TrEMBL

Q6FHW6

Related

ENSP00000225893, OTTHUMP00000164160, ENST00000225893, OTTHUMT00000256807

Conserved Domains (3) summary

cd00086
Location:232 – 307
Blast Score: 97

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam04814
Location:1 – 182
Blast Score: 593

HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

pfam04812
Location:314 – 536
Blast Score: 654

HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
NM_001165923.1 → NP_001159395.1 hepatocyte nuclear factor 1-beta isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.

Source sequence(s)

AC091199, AK296633, BC017714, DC340648

Consensus CDS

CCDS58538.1

UniProtKB/TrEMBL

E0YMJ6

UniProtKB/Swiss-Prot

P35680

Conserved Domains (3) summary

pfam04814
Location:1 – 182
Blast Score: 593

HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

pfam04812
Location:288 – 510
Blast Score: 655

HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus

cl00084
Location:206 – 278
Blast Score: 92

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p10 Primary Assembly

Range

36046434..36105096, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

31984120..32042660, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018928.1 Alternate CHM1_1.0

Range

36083608..36142282, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_006481.1: Suppressed sequence

Description

NM_006481.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01001358.1 (26434..55415)	None
genomic	ABBA01001359.1	None
genomic	ABBA01001360.1	None
genomic	AC091199.6	None
genomic	AC113211.5 (10189..38454)	None
genomic	AMYH01008361.1 (1789893..1848567)	None
genomic	CH471199.1	EAW57602.1
		EAW57603.1
genomic	U90287.1	AAC63388.1
mRNA	AI797324.1	None
mRNA	AK290131.1	BAF82820.1
mRNA	AK296633.1	BAG59235.1
mRNA	AK298393.1	BAG60628.1
mRNA	BC017714.1	AAH17714.1
mRNA	BT007126.1	AAP35790.1
mRNA	CR536572.1	CAG38809.1
mRNA	DC340648.1	None
mRNA	HM116553.1	ADM43490.1
mRNA	HM116554.1	ADM43491.1
mRNA	HM116555.1	ADM43492.1
mRNA	HM116556.1	ADM43493.1
mRNA	X58840.1	CAA41652.1
mRNA	X71348.1	CAB59223.1
other-genetic	DQ891528.2	ABM82454.1
other-genetic	EU176615.1	ABW03416.1