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Hnf1b Gene Detail
Summary
  • Symbol
    Hnf1b
  • Name
    HNF1 homeobox B
  • Synonyms
    hepatocyte nuclear factor-1 beta, Hnf1beta, HNF-1Beta, LFB3, Tcf2, Tcf-2, vHNF1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98505
    NCBI Gene: 21410
  • Gene Overview
    MyGene.info: HNF1B
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:83850209-83905917 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 51.23 cM
  • Mapping Data
    10 experiments
  • Sequence Tag
Strain
Comparison
more
  • SNPs within 2kb
    234 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98505
protein coding gene Chr11:83850063-83905917 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018862
protein coding gene Chr11:85238193-85297151 (+)
A/J MGP_AJ_G0018829
protein coding gene Chr11:81999159-82056233 (+)
AKR/J MGP_AKRJ_G0018799
protein coding gene Chr11:84419696-84478133 (+)
BALB/cJ MGP_BALBcJ_G0018802
protein coding gene Chr11:82379260-82436626 (+)
C3H/HeJ MGP_C3HHeJ_G0018616
protein coding gene Chr11:84474032-84529335 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019254
protein coding gene Chr11:87818180-87879454 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016887
protein coding gene Chr11:79091881-79146566 (+)
CAST/EiJ MGP_CASTEiJ_G0018171
protein coding gene Chr11:85095591-85156288 (+)
CBA/J MGP_CBAJ_G0018587
protein coding gene Chr11:91595432-91658480 (+)
DBA/2J MGP_DBA2J_G0018695
protein coding gene Chr11:81576632-81632769 (+)
FVB/NJ MGP_FVBNJ_G0018684
protein coding gene Chr11:81048753-81104350 (+)
LP/J MGP_LPJ_G0018765
protein coding gene Chr11:85776303-85832083 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018711
protein coding gene Chr11:91750552-91807710 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019294
protein coding gene Chr11:84693306-84756712 (+)
PWK/PhJ MGP_PWKPhJ_G0017940
protein coding gene Chr11:82324492-82381599 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017732
protein coding gene Chr11:84230038-84287216 (+)
WSB/EiJ MGP_WSBEiJ_G0018222
protein coding gene Chr11:84541409-84600444 (+)



Homology
more
  • Human Ortholog
    HNF1B, HNF1 homeobox B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HNF1B, HNF1 homeobox B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FJHN, HNF-1B, HNF1beta, HNF-1-beta, HNF2, HPC11, LFB3, LF-B3, MODY5, TCF2, TCF-2, VHNF1
  • Links
    NCBI Gene ID: 6928
    neXtProt AC: NX_P35680
    UniProt: P35680

  • Chr Location
    17q12; chr17:37686431-37745078 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with human HNF1B associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    54 phenotypes from 5 alleles in 4 genetic backgrounds
    32 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations exhibit reduced size, impaired development of extraembryonic membranes, lack of visceral or parietal endoderm, and early post-implantation lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21410 NCBI Gene Model | MGI Sequence Detail 55709 C57BL/6J ±  kb
    transcript NM_009330 RefSeq | MGI Sequence Detail 2843 C57BL/6  
    polypeptide P27889 UniProt | EBI | MGI Sequence Detail 558 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000008653 hepatocyte nuclear factor 1-beta
    • InterPro Domains
      IPR039066 Hepatocyte nuclear factor 1
      IPR006897 Hepatocyte nuclear factor 1, beta isoform, C-terminal
      IPR006899 Hepatocyte nuclear factor 1, N-terminal
      IPR023219 Hepatocyte nuclear factor 1, N-terminal domain superfamily
      IPR001356 Homeobox domain
      IPR009057 Homeobox-like domain superfamily
      IPR010982 Lambda repressor-like, DNA-binding domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 56
      cDNA 45
      Primer pair 10
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-14748, MGD-MRK-14754, MGI:2144141, MGI:2144334
    References
    more
    • Summaries
      All 176
      Developmental Gene Expression 106
      Gene Ontology 29
      Phenotypes 32
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:267771 Mamidi A, et al., Mechanosignalling via integrins directs fate decisions of pancreatic progenitors. Nature. 2018 Dec;564(7734):114-118

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    last database update
    05/14/2019
    MGI 6.14
    The Jackson Laboratory