HNF4G (hepatocyte nuclear factor 4 gamma)

Gene

• Entrez ID: 3174
• Gene name: Hepatocyte nuclear factor 4 gamma
• Gene symbol: HNF4G
• Synonyms (NCBI Gene): NR2A2, NR2A3
• Chromosome: 8
• Chromosome location: 8q21.13

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT709336	hsa-miR-4799-5p	HITS-CLIP	19536157
MIRT709335	hsa-miR-4263	HITS-CLIP	19536157
MIRT709334	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT709333	hsa-miR-3149	HITS-CLIP	19536157
MIRT709332	hsa-miR-129-5p	HITS-CLIP	19536157
MIRT709336	hsa-miR-4799-5p	HITS-CLIP	19536157
MIRT709335	hsa-miR-4263	HITS-CLIP	19536157
MIRT709334	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT709333	hsa-miR-3149	HITS-CLIP	19536157
MIRT709332	hsa-miR-129-5p	HITS-CLIP	19536157
MIRT1050583	hsa-miR-101	CLIP-seq
MIRT1050584	hsa-miR-1197	CLIP-seq
MIRT1050585	hsa-miR-139-5p	CLIP-seq
MIRT1050586	hsa-miR-140-5p	CLIP-seq
MIRT1050587	hsa-miR-144	CLIP-seq
MIRT1050588	hsa-miR-3121-3p	CLIP-seq
MIRT1050589	hsa-miR-3646	CLIP-seq
MIRT1050590	hsa-miR-3924	CLIP-seq
MIRT1050591	hsa-miR-410	CLIP-seq
MIRT1050592	hsa-miR-4272	CLIP-seq
MIRT1050593	hsa-miR-4738-3p	CLIP-seq
MIRT1050594	hsa-miR-4796-3p	CLIP-seq
MIRT1050595	hsa-miR-485-3p	CLIP-seq
MIRT1050596	hsa-miR-498	CLIP-seq
MIRT1050597	hsa-miR-513a-3p	CLIP-seq
MIRT1050598	hsa-miR-548v	CLIP-seq
MIRT1050599	hsa-miR-568	CLIP-seq
MIRT1920479	hsa-miR-3120-3p	CLIP-seq
MIRT1920480	hsa-miR-596	CLIP-seq
MIRT1920479	hsa-miR-3120-3p	CLIP-seq
MIRT1920480	hsa-miR-596	CLIP-seq
MIRT1920479	hsa-miR-3120-3p	CLIP-seq
MIRT1920480	hsa-miR-596	CLIP-seq
MIRT2243779	hsa-miR-1224-3p	CLIP-seq
MIRT2243780	hsa-miR-1260	CLIP-seq
MIRT2243781	hsa-miR-1260b	CLIP-seq
MIRT2243782	hsa-miR-1269	CLIP-seq
MIRT2243783	hsa-miR-1269b	CLIP-seq
MIRT2243784	hsa-miR-128	CLIP-seq
MIRT2243785	hsa-miR-1280	CLIP-seq
MIRT2243786	hsa-miR-188-3p	CLIP-seq
MIRT2243787	hsa-miR-188-5p	CLIP-seq
MIRT2243788	hsa-miR-27a	CLIP-seq
MIRT2243789	hsa-miR-27b	CLIP-seq
MIRT2243790	hsa-miR-3156-3p	CLIP-seq
MIRT2243791	hsa-miR-4279	CLIP-seq
MIRT2243792	hsa-miR-432	CLIP-seq
MIRT2243793	hsa-miR-4446-5p	CLIP-seq
MIRT2243794	hsa-miR-4529-3p	CLIP-seq
MIRT2243795	hsa-miR-4755-5p	CLIP-seq
MIRT2243796	hsa-miR-617	CLIP-seq
MIRT2243797	hsa-miR-642a	CLIP-seq
MIRT2389077	hsa-miR-1208	CLIP-seq
MIRT2389078	hsa-miR-2909	CLIP-seq
MIRT2389079	hsa-miR-452	CLIP-seq
MIRT2389080	hsa-miR-4676-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12220531
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	23896584
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8622695
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	8622695
GO:0008270	Function	Zinc ion binding	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23896584
GO:0046872	Function	Metal ion binding	IEA
GO:0072686	Component	Mitotic spindle	IDA

Other IDs

• MIM: 605966
• HGNC: 5026
• e!Ensembl: ENSG00000164749

Protein

• UniProt ID: Q14541
• Protein name: Hepatocyte nuclear factor 4-gamma (HNF-4-gamma) (Nuclear receptor subfamily 2 group A member 2)
• Protein function: Transcription factor. Has a lower transcription activation potential than HNF4-alpha.
• PDB: 1LV2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	10 → 79	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	124 → 312	Ligand-binding domain of nuclear hormone receptor	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in pancreas, kidney, small intestine and testis. Weakly expressed in colon. Not expressed in liver, skeletal muscle, lung, placenta, brain, heart, peripheral blood, ovary, prostate, thymus and spleen.
• Sequence:

  MNTTDNGVNCLCAICGDRATGKHYGASSCDGCKGFFRRSIRKSHVYSCRFSRQCVVDKDK
  RNQCRYCRLRKCFRAGMKKEAVQNERDRISTRRSTFDGSNIPSINTLAQAEVRSRQISVS
  SPGSSTDINVKKIASIGDVCESMKQQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHL
  LLGATKRSMMYKDILLLGNNYVIHRNSCEVEISRVANRVLDELVRPFQEIQIDDNEYACL
  KAIVFFDPDAKGLSDPVKIKNMRFQVQIGLEDYINDRQYDSRGRFGELLLLLPTLQSITW
  QMIEQIQFVKLFGMVKIDNLLQEMLLGGASNDGSHLHHPMHPHLSQDPLTGQTILLGPMS
  TLVHADQISTPETPLPSPPQGSGQEQYKIAANQASVISHQHLSKQKQL

• Sequence length: 408

Pathways

KEGG:

Maturity onset diabetes of the young

Reactome:

Nuclear Receptor transcription pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	23263486		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25878394, 29719587		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	23535729, 25751625, 29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20976847	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25878394, 29719587		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29719587		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30896821	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29907492	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30896821	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22523087	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10990086		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10990086		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	Pubtator	28252667	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	BEFREE	28460474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	Pubtator	28460474	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Diseases	Intestinal disease	Pubtator	25800782	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	23535729		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29719587		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26854454, 29422604		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25878394, 29719587		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29719587		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23563607, 29976977	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39341888	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26854454, 29422604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	GWASCAT_DG	29422604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26854454	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	29907492	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	17262812		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25878394	Associate	★☆☆☆☆ Found in Text Mining only