ENSMUSG00000017950


Mus musculus

Features
Gene ID: ENSMUSG00000017950
  
Biological name :Hnf4a
  
Synonyms : Hepatocyte nuclear factor 4-alpha / Hnf4a / P49698
  
Possible biological names infered from orthology : P41235
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: H3
Gene start: 163506808
Gene end: 163572910
  
Corresponding Affymetrix probe sets: 10478389 (MoGene1.0st)   1421983_s_at (Mouse Genome 430 2.0 Array)   1427000_at (Mouse Genome 430 2.0 Array)   1427001_s_at (Mouse Genome 430 2.0 Array)   1450447_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000123511
Ensembl peptide - ENSMUSP00000018094
Ensembl peptide - ENSMUSP00000105038
Ensembl peptide - ENSMUSP00000119479
NCBI entrez gene - 15378     See in Manteia.
MGI - MGI:109128
RefSeq - NM_001312907
RefSeq - NM_001312906
RefSeq - NM_008261
RefSeq - XM_006498787
RefSeq - XM_006498788
RefSeq Peptide - NP_001299835
RefSeq Peptide - NP_001299836
RefSeq Peptide - NP_032287
swissprot - A2A5I6
swissprot - P49698
swissprot - A2A5I4
swissprot - Z4YKX0
Ensembl - ENSMUSG00000017950
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hnf4aENSDARG00000021494Danio rerio
 HNF4AENSGALG00000004285Gallus gallus
 HNF4AENSG00000101076Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Hnf4g / hepatocyte nuclear factor 4 gamma / Q14541*ENSMUSG0000001768865
Rxrb / P28704 / retinoid X receptor beta / P28702*ENSMUSG0000003965632
Rxra / P28700 / retinoid X receptor alpha / P19793*ENSMUSG0000001584631
Rxrg / P28705 / Retinoic acid receptor RXR-gamma / P48443* / retinoid X receptor gamma*ENSMUSG0000001584331
Nr2f6 / P43136 / Nuclear receptor subfamily 2 group F member 6 / P10588*ENSMUSG0000000239329
Nr2f2 / P43135 / nuclear receptor subfamily 2, group F, member 2 / P24468*ENSMUSG0000003055128
Nr2f1 / nuclear receptor subfamily 2, group F, member 1 / P10589*ENSMUSG0000006917127
Nr2e1 / Q64104 / nuclear receptor subfamily 2, group E, member 1 / Q9Y466*ENSMUSG0000001980326
Nr2e3 / Q9QXZ7 / Photoreceptor-specific nuclear receptor / Q9Y5X4* / nuclear receptor subfamily 2 group E member 3*ENSMUSG0000003229226
Nr2c2 / P49117 / nuclear receptor subfamily 2, group C, member 2 / P49116*ENSMUSG0000000589325
Nr2c1 / Q505F1 / Nuclear receptor subfamily 2 group C member 1 / P13056*ENSMUSG0000000589725


Protein motifs (from Interpro)
Interpro ID Name
 IPR000536  Nuclear hormone receptor, ligand-binding domain
 IPR001628  Zinc finger, nuclear hormone receptor-type
 IPR001723  Nuclear hormone receptor
 IPR003068  Transcription factor COUP
 IPR013088  Zinc finger, NHR/GATA-type
 IPR035500  Nuclear hormone receptor-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IMP
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006591 ornithine metabolic process IEA
 biological_processGO:0006629 lipid metabolic process IMP
 biological_processGO:0006805 xenobiotic metabolic process IEA
 biological_processGO:0007548 sex differentiation IMP
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0009749 response to glucose IMP
 biological_processGO:0010470 regulation of gastrulation IMP
 biological_processGO:0019216 regulation of lipid metabolic process IEA
 biological_processGO:0023019 signal transduction involved in regulation of gene expression IDA
 biological_processGO:0030308 negative regulation of cell growth IEA
 biological_processGO:0030522 intracellular receptor signaling pathway IEA
 biological_processGO:0031018 endocrine pancreas development TAS
 biological_processGO:0042593 glucose homeostasis IMP
 biological_processGO:0042632 cholesterol homeostasis IMP
 biological_processGO:0043401 steroid hormone mediated signaling pathway IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0050796 regulation of insulin secretion IMP
 biological_processGO:0055088 lipid homeostasis IEA
 biological_processGO:0055091 phospholipid homeostasis IMP
 biological_processGO:0060395 SMAD protein signal transduction IDA
 biological_processGO:0070328 triglyceride homeostasis IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001102 RNA polymerase II activating transcription factor binding IPI
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding ISO
 molecular_functionGO:0003700 DNA-binding transcription factor activity ISO
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
 molecular_functionGO:0003707 steroid hormone receptor activity IEA
 molecular_functionGO:0004879 nuclear receptor activity IEA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005504 fatty acid binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Nuclear Receptor transcription pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000186 decreased circulating HDL cholesterol level "lower than average level of high density lipoprotein in blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hnf4atm1.1Gonz/Hnf4atm1.1Gonz,Tg(Alb1-cre)1Dlr/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0000596 abnormal liver development "anomalous differentiation of the liver" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Runx1tm1Dow/Runx1tm1Dow
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
Show

Allelic Composition: Runx1tm1Dow/Runx1tm1Dow
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Hnf4atm1.1Gonz/Hnf4atm1.1Gonz,Tg(Alb1-cre)1Dlr/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
Show

Allelic Composition: Hnf4atm1.1Gonz/Hnf4atm1.1Gonz,Tg(Alb1-cre)1Dlr/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Runx1tm1Dow/Runx1tm1Dow
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Hnf4atm1.1Gonz/Hnf4atm1.1Gonz,Tg(Alb1-cre)1Dlr/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0000608 dissociated hepatocytes "disorganization of cohesive hepatocyte structure" [J:23170]
Show

Allelic Composition: Runx1tm1Dow/Runx1tm1Dow
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
Show

Allelic Composition: Hnf4atm1.1Gonz/Hnf4atm1.1Gonz,Tg(Alb1-cre)1Dlr/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0001672 abnormal embryogenesis/ development "anomaly in the establishment of the characteristic configuration of the embryonic body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0001675 abnormal ectoderm development "failure or abnormality in the formation of the ectoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0001683 absent mesoderm "missing or failure to differentiate the middle primary germ layer " [J:40594]
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Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0001695 abnormal gastrulation "anomalous development and invagination of the embryonic germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Hsp90b1tm1Zhli/Hsp90b1tm1.1Zhli,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hnf4atm1.1Gonz/Hnf4atm1.1Gonz,Tg(Alb1-cre)1Dlr/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0002086 abnormal extraembryonic tissue morphology "structural abnormality or development of the membranes involved with embryonic protection and nutrition" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:40594, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hnf4atm2Mwei/Hnf4atm2Mwei
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Aprttm1Dwm/Aprttm1Dwm
Genetic Background: 129P2/OlaHsd-Aprttm1Dwm

Allelic Composition: Hnf4atm1(cre)Sdv/Hnf4a+
Genetic Background: involves: 129S/SvEv * CD-1

Allelic Composition: Hnf4atm1Mwei/Hnf4atm1Mwei
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002230 abnormal primitive streak formation "anomaly in the establishment of the midline ridge of embryonic epiblast that later develops into mesoderm and endoderm" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0002575 increased circulating ketone body level "greater than the normal amount of acetoacetate, 3-hydroxybutyrate and acteone in the blood; produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator, J:71968]
Show

Allelic Composition: Hnf4atm2Mwei/Hnf4atm2Mwei
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hnf4atm2Mwei/Hnf4atm2Mwei
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002644 decreased circulating triglyceride level "lower than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hnf4atm2Mwei/Hnf4atm2Mwei
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Hnf4atm1.1Gonz/Hnf4atm1.1Gonz,Tg(Alb1-cre)1Dlr/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0002702 decreased circulating free fatty acid level "lower than normal levels of unesterified fatty acids in the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hnf4atm2Mwei/Hnf4atm2Mwei
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002727 decreased circulating insulin level "less than normal levels of insulin in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fgfr3tm1Led/Fgfr3tm1Led,Fgfr4tm1Cxd/Fgfr4tm1Cxd
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0003087 absent allantois "missing fetal membrane which contributes to the formation of the umbilical cord and placenta" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0003484 abnormal channel response "anomalies in the electrophysiological recordings from ion channels" [Nmice:Neuromice Consortium Submission]
Show

Allelic Composition: Hnf4atm1.1Gonz/Hnf4atm1.1Gonz,Tg(Ins2-cre)25Mgn/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA

 MP:0003895 increased ectoderm apoptosis "increase in the number of ectoderm cells undergoing programmed cell death during development" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0004119 hypokalemia "excessively low concentrations of potassium in the circulating blood; may be chronic or due to gastrointestinal and kidney depletion due to infection" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hnf4atm2Mwei/Hnf4atm2Mwei
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0004151 hypoferremia "less than the normal concentration of this metallic element in the blood" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Hnf4atm2Mwei/Hnf4atm2Mwei
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005030 absent amnion "missing innermost of the extraembryonic membranes" [dlb:Donna Burkart , Mouse Genome Informatics Curator, J:57761]
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Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0005179 decreased total circulating cholesterol level "less than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hnf4atm2Mwei/Hnf4atm2Mwei
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Hnf4atm1.1Gonz/Hnf4atm1.1Gonz,Tg(Alb1-cre)1Dlr/0
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0005293 impaired glucose tolerance "less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Hnf4atm1Mwei/Hnf4atm1Mwei
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Hnf4atm1.1Gonz/Hnf4atm1.1Gonz,Tg(Ins2-cre)25Mgn/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA

 MP:0005344 increased circulating bilirubin level "greater than the normal concentration in the blood of this yellow heme breakdown product" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]
Show

Allelic Composition: Hnf4atm2Mwei/Hnf4atm2Mwei
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005439 decreased glycogen level "less than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Runx1tm1Dow/Runx1tm1Dow
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009593 absent chorion "absence of the outermost extraembryonic membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Hnf4atm2Mwei/Hnf4atm2Mwei
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Hnf4atm1.1Gonz/Hnf4atm1.1Gonz,Tg(Ins2-cre)25Mgn/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA

Allelic Composition: Hnf4atm1.2Gonz/Hnf4atm1.2Gonz
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0012105 delayed gastrulation "late onset of the development and invagination of the embryonic germ layers" [MGI:anna]
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Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0012131 small visceral yolk sac "reduced size of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo" [MGI:anna]
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Allelic Composition: Men1tm1Mmey/Men1+
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0013504 increased embryonic tissue cell apoptosis "increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death" [MGI:csmith]
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Allelic Composition: Hsp90b1tm1Zhli/Hsp90b1tm1.1Zhli,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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