Hnf1b MGI Mouse Gene Detail - MGI:98505

Symbol

Hnf1b
Name

HNF1 homeobox B
Synonyms

hepatocyte nuclear factor-1 beta, Hnf1beta, HNF-1Beta, LFB3, Tcf-2, Tcf2, vHNF1

Feature Type

protein coding gene
IDs

MGI:98505
NCBI Gene: 21410
Alliance

gene page
Transcription Start Sites

19 TSS

Sequence Map

Chr11:83741035-83796743 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 51.23 cM
Mapping Data

10 experiments

SNPs within 2kb

1356 from dbSNP Build 142
Strain Annotations

18
PCR

2
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98505	protein coding gene	Chr11:83740889-83796743 (+)
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 (+)

Human Ortholog

HNF1B, HNF1 homeobox B

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HNF1B, HNF1 homeobox B
Synonyms

ADTKD3, FJHN, HNF-1B, HNF-1-beta, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, RCAD, T2D, TCF-2, TCF2, VHNF1
Links

HGNC:11630

NCBI Gene ID: 6928

neXtProt AC: NX_P35680

UniProt: P35680
Chr Location

17q12; chr17:37686431-37745059 (-) GRCh38

MGI Vertebrate Homology

Hnf1b stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: HNF1B
Gene Tree

Hnf1b

Diseases

5 with human HNF1B associations

				Human Disease	Mouse Models
				kidney disease IDs kidney disease DOID:557 EFO:0003086 ICD10CM:N08 ICD9CM:588.8 ICD9CM:588.89 MESH:D007674 NCI:C3149 UMLS_CUI:C0022658
				maturity-onset diabetes of the young type 5 IDs maturity-onset diabetes of the young type 5 DOID:0111101 OMIM:137920
				pancreas disease IDs pancreas disease DOID:26 ICD10CM:K86.8 ICD9CM:577.8 UMLS_CUI:C0029771
				renal cell carcinoma IDs renal cell carcinoma DOID:4450 EFO:0000681 MESH:D002292 NCI:C9385 OMIM:300854 ORDO:217071 UMLS_CUI:C0007134
				type 2 diabetes mellitus IDs type 2 diabetes mellitus DOID:9352 ICD10CM:E11 KEGG:04930 MESH:D003924 NCI:C26747 OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 UMLS_CUI:C0011860

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

69 phenotypes from 6 alleles in 5 genetic backgrounds
49 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

14
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

2
Targeted

8
Genomic Mutations

3 involving Hnf1b
Incidental Mutations

APF
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for targeted null mutations exhibit reduced size, impaired development of extraembryonic membranes, lack of visceral or parietal endoderm, and early post-implantation lethality. Mice heterozygous for a splice mutation suffer from hyperglycemia, pancreas inflammation and other pancreatic phenotypes.

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All GO Annotations

89
GO References

31

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 differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

1247
Tissues

332
cDNA Data

44
Literature Summary

127

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hnf1b

ZFIN hnf1ba, hnf1bb

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All Sequences

60
RefSeq

14
UniProt

3
CCDS

CCDS25179.1, CCDS70271.1, CCDS70272.1

Ensembl

ENSMUSG00000020679 (Evidence)
NCBI Gene

21410

			Length	Strain/Species	Flank
genomic	21410	NCBI Gene Model \| MGI Sequence Detail	55709	C57BL/6J	± kb
transcript	NM_009330	RefSeq \| MGI Sequence Detail	2843	ZRU/MplStud
polypeptide	P27889	UniProt \| EBI \| MGI Sequence Detail	558	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000008653 hepatocyte nuclear factor 1-beta

(term hierarchy)
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

IPR044866 HNF-1, dimerization domain

IPR044869 HNF-1, POU-specific (POUs) atypical domain

IPR001356 Homeobox domain

IPR009057 Homeobox-like domain superfamily

IPR010982 Lambda repressor-like, DNA-binding domain superfamily

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All nucleic 63

cDNA 45

Primer pair 14

Other 4

Microarray probesets 4

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MGD-MRK-14748, MGD-MRK-14754, MGI:2144141, MGI:2144334

Summaries

All 213

Developmental Gene Expression 127

Gene Ontology 31

Phenotypes 49
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:359659 Jankowski J, et al., Sexually dimorphic renal expression of mouse Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b. Commun Biol. 2024 Sep 14;7(1):1142

TSS for Hnf1b:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr103762	Chr11:83741658-83741677 (+)	633 bp
Tssr103763	Chr11:83741689-83741707 (+)	663 bp
Tssr3616	Chr11:83741709-83741712 (+)	676 bp
Tssr103764	Chr11:83742961-83742995 (+)	1,943 bp
Tssr103765	Chr11:83743746-83743770 (+)	2,723 bp
Tssr103766	Chr11:83744642-83744652 (+)	3,612 bp
Tssr103767	Chr11:83750147-83750154 (+)	9,116 bp
Tssr103768	Chr11:83751439-83751457 (+)	10,413 bp
Tssr103769	Chr11:83753635-83753646 (+)	12,606 bp
Tssr103770	Chr11:83753700-83753711 (+)	12,671 bp
Tssr103771	Chr11:83756447-83756457 (+)	15,417 bp
Tssr103772	Chr11:83766354-83766381 (+)	25,333 bp
Tssr103773	Chr11:83773526-83773554 (+)	32,505 bp
Tssr103774	Chr11:83773556-83773586 (+)	32,536 bp
Tssr103775	Chr11:83776320-83776330 (+)	35,290 bp
Tssr103776	Chr11:83776501-83776532 (+)	35,482 bp
Tssr3617	Chr11:83776601-83776637 (+)	35,584 bp
Tssr103777	Chr11:83776695-83776705 (+)	35,665 bp
Tssr103778	Chr11:83776918-83776928 (+)	35,888 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24