• Gene id: 3172

Gene Summary

• Gene Symbol: HNF4A   Gene   UCSC   Ensembl
• Aliases: FRTS4, HNF4, HNF4a7, HNF4a8, HNF4a9, HNF4alpha, MODY, MODY1, NR2A1, NR2A21, TCF, TCF14
• Gene name: hepatocyte nuclear factor 4 alpha
• Alternate names: hepatocyte nuclear factor 4-alpha, HNF4alpha10/11/12, TCF-14, hepatic nuclear factor 4 alpha, nuclear receptor subfamily 2 group A member 1, transcription factor 14, transcription factor HNF-4,
• Gene location: 20q13.12 (44355698: 44434595)     Exons: 13     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expres
• OMIM: 605999

Protein Summary

• Protein general information: P41235  
  • Name: Hepatocyte nuclear factor 4 alpha (HNF 4 alpha) (Nuclear receptor subfamily 2 group A member 1) (Transcription factor 14) (TCF 14) (Transcription factor HNF 4)
  • Length: 474  
  • Mass: 52785
• Sequence:

  MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGAS
  SCDGCKGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLP
  SINALLQAEVLSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAG
  EHLLLGATKRSMVFKDVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAK
  GLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIDNLLQEMLL
  GGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMCEWPRPRGQAATPETPQPSPPGGSGSEPYKLLP
  GAVATIVKPLSAIPQPTITKQEVI

• Structural information:
  • Protein Domains: (147..37-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR039067  IPR035500  IPR000536  IPR001723  IPR001628   IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1PZL 3CBB 3FS1 4B7W 4IQR 6CHT
  • PDBsum: 1PZL 3CBB 3FS1 4B7W 4IQR 6CHT
  • DIP: 499
  • STRING: ENSP00000312987
• Other Databases: GeneCards:  HNF4A  Malacards:  HNF4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0048856	anatomical structure development	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042752	regulation of circadian rhythm	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003323	type B pancreatic cell development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0055088	lipid homeostasis	IEA	biological process
GO:0070365	hepatocyte differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070328	triglyceride homeostasis	IEA	biological process
GO:0060395	SMAD protein signal transduction	IEA	biological process
GO:0055091	phospholipid homeostasis	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0023019	signal transduction involved in regulation of gene expression	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0010470	regulation of gastrulation	IEA	biological process
GO:0007548	sex differentiation	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005504	fatty acid binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005102	signaling receptor binding	IDA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0007596	blood coagulation	IDA	biological process
GO:0019216	regulation of lipid metabolic process	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IMP	biological process
GO:0006805	xenobiotic metabolic process	IMP	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0009749	response to glucose	ISS	biological process
GO:0030308	negative regulation of cell growth	IMP	biological process
GO:0042593	glucose homeostasis	ISS	biological process
GO:0055091	phospholipid homeostasis	ISS	biological process
GO:0070328	triglyceride homeostasis	ISS	biological process
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006591	ornithine metabolic process	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0050796	regulation of insulin secretion	ISS	biological process
GO:0055088	lipid homeostasis	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04152	AMPK signaling pathway
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Maturity onset diabetes of the young	KEGG:H00410
Maturity onset diabetes of the young	KEGG:H00410
Familial combined hyperlipidemia	PMID:18340007
hepatocellular carcinoma	PMID:20876809
type 2 diabetes mellitus	PMID:8945471
type 2 diabetes mellitus	PMID:18028455
type 2 diabetes mellitus	PMID:18332101
type 2 diabetes mellitus	PMID:18728231
hypoglycemia	PMID:18268044
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881