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Gene: HNF1B (HNF1 homeobox B) Homo sapiens
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Symbol: HNF1B
Name: HNF1 homeobox B
Description: Exhibits DNA binding activity; DNA-binding transcription factor activity; and protein homodimerization activity. Involved in animal organ development and positive regulation of transcription initiation from RNA polymerase II promoter. Localizes to nucleoplasm. Implicated in kidney disease; maturity-onset diabetes of the young type 5; pancreas disease; renal cell carcinoma; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FJHN; hepatocyte nuclear factor 1-beta; HNF-1-beta; HNF-1B; HNF1 beta A; HNF1beta; HNF2; homeoprotein LFB3; HPC11; LF-B3; LFB3; MODY5; TCF-2; TCF2; transcription factor 2; transcription factor 2, hepatic; variant hepatic nuclear factor 1; VHNF1
Orthologs:
Mus musculus (house mouse) : Hnf1b (HNF1 homeobox B)  MGI  Alliance
Rattus norvegicus (Norway rat) : Hnf1b (HNF1 homeobox B)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Hnf1b (HNF1 homeobox B)
Pan paniscus (bonobo/pygmy chimpanzee) : HNF1B (HNF1 homeobox B)
Canis lupus familiaris (dog) : HNF1B (HNF1 homeobox B)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Hnf1b (HNF1 homeobox B)
Sus scrofa (pig) : HNF1B (HNF1 homeobox B)
Chlorocebus sabaeus (African green monkey) : HNF1B (HNF1 homeobox B)
Heterocephalus glaber (naked mole-rat) : Hnf1b (HNF1 homeobox B)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1737,686,431 - 37,745,105 (-)EnsemblGRCh38hg38GRCh38
GRCh381737,686,431 - 37,745,059 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371736,046,434 - 36,105,096 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361733,120,547 - 33,179,209 (-)NCBINCBI36hg18NCBI36
Build 341733,162,728 - 33,179,182NCBI
Celera1732,869,487 - 32,928,989 (-)NCBI
Cytogenetic Map17q12ENTREZGENE
HuRef1731,984,120 - 32,042,660 (-)NCBIHuRef
CHM1_11736,077,994 - 36,136,641 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on HNF1B
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 69136
Created: 2001-11-08
Species: Homo sapiens
Last Modified: 2020-04-21
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.