Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

3172

Name

HNF4A

Synonym

FRTS4|HNF4|HNF4a7|HNF4a8|HNF4a9|HNF4alpha|MODY|MODY1|NR2A1|NR2A21|TCF|TCF14;hepatocyte nuclear factor 4, alpha;HNF4A;hepatocyte nuclear factor 4, alpha

Definition

HNF4alpha10/11/12|TCF-14|hepatic nuclear factor 4 alpha|hepatocyte nuclear factor 4-alpha|nuclear receptor subfamily 2 group A member 1|transcription factor 14|transcription factor HNF-4

Position

20q13.12

Gene Type

protein-coding

TSG scores

Description

TUSON ranking

8497

TUSON P-value

1

Pathways and Diseases

Pathway

HIF-1-alpha transcription factor network;PID Curated;200172

Pathway

Maturity onset diabetes of the young;KEGG PATHWAY;hsa04950

Pathway

Regulation of nuclear SMAD2/3 signaling;PID Curated;200002

Pathway

FOXA2 and FOXA3 transcription factor networks;PID Curated;200073

Pathway

Regulation of beta-cell development;Reactome;REACT:13698

Pathway

Gene Expression;Reactome;REACT:71

Disease

Maturity onset diabetes of the young (MODY);KEGG DISEASE;H00410

Disease

METABOLIC;GAD

Disease

diabetes, type 2;GAD

Disease

Metabolic diseases;KEGG DISEASE

Disease

Diabetes mellitus;FunDO

Disease

birth weight hypoglycemia;GAD

Disease

IMMUNE;GAD

Disease

cholesterol metabolic syndrome triglycerides;GAD

Disease

Hyperinsulinism;FunDO

Disease

HDL cholesterol;NHGRI

Disease

Ulcerative colitis;NHGRI

Disease

Pancreas disease;FunDO

Disease

plasma HDL cholesterol (HDL-C) levels;GAD

Disease

MODY, type I;OMIM

Disease

HDL cholesterol;GAD

Disease

Diabetes;KEGG DISEASE

Disease

ulcerative colitis;GAD

Disease

Diabetes mellitus, noninsulin-dependent;OMIM

Disease

Metabolism disease;FunDO

External Links

Links to Entrez Gene

3172

Links to all GeneRIF Items

3172

Links to iHOP

3172

Sequence Information

The sequences provided here are only the longest representative sequences, not covering all the isoforms.

Nucleotide Sequence

>3172 : length: 1425
atgcgactctccaaaaccctcgtcgacatggacatggccgactacagtgctgcactggac
ccagcctacaccaccctggaatttgagaatgtgcaggtgttgacgatgggcaatgacacg
tccccatcagaaggcaccaacctcaacgcgcccaacagcctgggtgtcagcgccctgtgt
gccatctgcggggaccgggccacgggcaaacactacggtgcctcgagctgtgacggctgc
aagggcttcttccggaggagcgtgcggaagaaccacatgtactcctgcagatttagccgg
cagtgcgtggtggacaaagacaagaggaaccagtgccgctactgcaggctcaagaaatgc
ttccgggctggcatgaagaaggaagccgtccagaatgagcgggaccggatcagcactcga
aggtcaagctatgaggacagcagcctgccctccatcaatgcgctcctgcaggcggaggtc
ctgtcccgacagatcacctcccccgtctccgggatcaacggcgacattcgggcgaagaag
attgccagcatcgcagatgtgtgtgagtccatgaaggagcagctgctggttctcgttgag
tgggccaagtacatcccagctttctgcgagctccccctggacgaccaggtggccctgctc
agagcccatgctggcgagcacctgctgctcggagccaccaagagatccatggtgttcaag
gacgtgctgctcctaggcaatgactacattgtccctcggcactgcccggagctggcggag
atgagccgggtgtccatacgcatccttgacgagctggtgctgcccttccaggagctgcag
atcgatgacaatgagtatgcctacctcaaagccatcatcttctttgacccagatgccaag
gggctgagcgatccagggaagatcaagcggctgcgttcccaggtgcaggtgagcttggag
gactacatcaacgaccgccagtatgactcgcgtggccgctttggagagctgctgctgctg
ctgcccaccttgcagagcatcacctggcagatgatcgagcagatccagttcatcaagctc
ttcggcatggccaagattgacaacctgttgcaggagatgctgctgggagggtcccccagc
gatgcaccccatgcccaccaccccctgcaccctcacctgatgcaggaacatatgggaacc
aacgtcatcgttgccaacacaatgcccactcacctcagcaacggacagatgtgtgagtgg
ccccgacccaggggacaggcagccacccctgagaccccacagccctcaccgccaggtggc
tcagggtctgagccctataagctcctgccgggagccgtcgccacaatcgtcaagcccctc
tctgccatcccccagccgaccatcaccaagcaggaagttatctag

Protein Sequence

>3172 : length: 474
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALC
AICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKC
FRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKK
IASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAK
GLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKL
FGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMCEW
PRPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI



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