HNF1B (HNF1 homeobox B)

2007-02-01  

Identity

HGNC
HNF1B
LOCATION
17q12
LOCUSID
6928
ALIAS
ADTKD3,FJHN,HNF-1-beta,HNF-1B,HNF1beta,HNF2,HPC11,LF-B3,LFB3,MODY5,RCAD,T2D,TCF-2,TCF2,VHNF1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6928
MIM: 189907
HGNC: 11630
Ensembl: ENSG00000275410

Variants:

dbSNP: 6928
ClinVar: 6928
TCGA: ENSG00000275410
COSMIC: HNF1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000275410ENST00000613727A0A0C4DGS8
ENSG00000275410ENST00000614313A0A087WZC2
ENSG00000275410ENST00000617272E0YMJ8
ENSG00000275410ENST00000617811P35680
ENSG00000275410ENST00000617811Q6FHW6
ENSG00000275410ENST00000620125A0A087WXS2
ENSG00000275410ENST00000621123P35680
ENSG00000275410ENST00000621123E0YMJ6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Maturity onset diabetes of the youngKEGGko04950
Maturity onset diabetes of the youngKEGGhsa04950
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in early pancreatic precursor cellsREACTOMER-HSA-210747
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cellsREACTOMER-HSA-210744

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA150595617platinumChemicalMultilinkAnnotationassociated27561454
PA24684AKT1GenePathwayassociated
PA450395metforminChemicalVariantAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
376322142024Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.1
377375342024Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.1
382162742024Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion.0
387887242024Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations.0
376322142024Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.1
377375342024Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.1
382162742024Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion.0
387887242024Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations.0
362825442023Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.6
365118162023HNF1B-driven three-dimensional chromatin structure for molecular classification in pancreatic cancers.1
365200272023HNF1β-associated cyst development and electrolyte disturbances are not explained by BAIAP2L2 expression.0
365221562023HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes.7
366722422023The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored.5
362825442023Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.6
365118162023HNF1B-driven three-dimensional chromatin structure for molecular classification in pancreatic cancers.1

Citation

Dessen P

HNF1B (HNF1 homeobox B)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/44558/hnf1b-(hnf1-homeobox-b)