Hs07164940_cn

• Gene Symbol: HNF4A
• Assay Reference Genome Location: Chr.20:44366896 on build GRCh38
• Cytoband: 20q13.12

Target Gene Details

• Entrez Gene ID: 3172
• Gene Name: hepatocyte nuclear factor 4 alpha
• Gene Aliases: FRTS4, HNF4, HNF4a7, HNF4a8, HNF4a9, HNF4alpha, MODY, MODY1, NR2A1, NR2A21, TCF, TCF14
• Location: Chr.20:44355801-44432845 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HNF4A	NM_001030003.2			NP_001025174.1
	NM_001030004.2			NP_001025175.1
	NM_001287182.1			NP_001274111.1
	NM_001287183.1			NP_001274112.1
	NM_001287184.1			NP_001274113.1
	NM_175914.4			NP_787110.2
	AY680696.1			AAT91237.1
	AY680697.1			AAT91238.1
	AY680698.1			AAT91239.1
	FJ608822.1
	HQ692868.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1057847	Chr.20:42652464 - 44431352 on Build GRCh38	Loss	HNF4A-AS1 PTPRT SGK2 R3HDML OSER1-AS1 GDAP1L1 TOX2 L3MBTL1 HNF4A FITM2 GTSF1L JPH2 OSER1 LOC101927200 LOC101927159 MIR3646 LOC101927138 LOC105372626 MYBL2 IFT52 SRSF6
nsv586065	Chr.20:44261867 - 44505244 on Build GRCh38	Gain	FITM2 HNF4A-AS1 LINC01430 R3HDML MIR3646 GDAP1L1 HNF4A LINC01620 TTPAL SERINC3
esv2663976	Chr.20:44366466 - 44369094 on Build GRCh38	Deletion	HNF4A

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

C4 zinc finger nuclear receptor

Gene Ontology Categories:

Process(es)

regulation of transcription from RNA polymerase II promoter
transcription initiation from RNA polymerase II promoter
ornithine metabolic process
lipid metabolic process
acyl-CoA metabolic process
xenobiotic metabolic process
establishment of tissue polarity
sex differentiation
blood coagulation
negative regulation of cell proliferation
response to glucose
regulation of gastrulation
regulation of lipid metabolic process
signal transduction involved in regulation of gene expression
cell differentiation
negative regulation of cell growth
intracellular receptor signaling pathway
regulation of microvillus assembly
negative regulation of protein import into nucleus, translocation
response to drug
negative regulation of tyrosine phosphorylation of Stat5 protein
glucose homeostasis
steroid hormone mediated signaling pathway
negative regulation of sequence-specific DNA binding transcription factor activity
cell-cell junction organization
positive regulation of gluconeogenesis
positive regulation of fatty acid biosynthetic process
positive regulation of transcription, DNA-templated
negative regulation of mitotic cell cycle
positive regulation of transcription from RNA polymerase II promoter
regulation of insulin secretion
response to cAMP
lipid homeostasis
phospholipid homeostasis
SMAD protein signal transduction
triglyceride homeostasis
negative regulation of activation of JAK2 kinase activity
positive regulation of cholesterol homeostasis

Function(s)

fatty-acyl-CoA binding
RNA polymerase II core promoter sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II activating transcription factor binding
DNA binding
transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
steroid hormone receptor activity
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding
receptor binding
fatty acid binding
protein binding
zinc ion binding
palmitoyl-CoA hydrolase activity
protein homodimerization activity
transcription regulatory region DNA binding