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
182640962008Multiple loci identified in a genome-wide association study of prostate cancer.448
176034852007Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.330
176034852007Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.330
150673242004Gene expression profiling predicts clinical outcome of prostate cancer.171
200751502010Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.95
187584622008Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12.89
187584622008Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12.89
206826872010Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.88
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
169716582006Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.83

Citation

Dessen P

HNF1B (HNF1 homeobox B)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/44558/hnf1b