KEGG   Homo sapiens (human): 3172
Entry
3172              CDS       T01001                                 
Symbol
HNF4A, FRTS4, HNF4, HNF4a7, HNF4a8, HNF4a9, HNF4alpha, MODY, MODY1, NR2A1, NR2A21, TCF, TCF-14, TCF14
Name
(RefSeq) hepatocyte nuclear factor 4-alpha isoform 2
  KO
K07292  hepatocyte nuclear factor 4-alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04152  AMPK signaling pathway
hsa04950  Maturity onset diabetes of the young
Disease
H00409  Type 2 diabetes mellitus
H00410  Maturity onset diabetes of the young (MODY)
H01198  Fanconi renotubular syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04152 AMPK signaling pathway
    3172 (HNF4A)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04950 Maturity onset diabetes of the young
    3172 (HNF4A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    3172 (HNF4A)
  09183 Protein families: signaling and cellular processes
   03310 Nuclear receptors [BR:hsa03310]
    3172 (HNF4A)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Zinc finger
   Cys4 hepatocyte nuclear factor 4-like
    3172 (HNF4A)
Nuclear receptors [BR:hsa03310]
 2. Hepatocyte nuclear factor 4 like
  2A. Hepatocyte nuclear factor 4 receptor
   3172 (HNF4A)
SSDB
Motif
Pfam: Hormone_recep zf-C4
Other DBs
NCBI-GeneID: 3172
NCBI-ProteinID: NP_000448
OMIM: 600281
HGNC: 5024
UniProt: P41235 F1D8T1
Structure
Position
20:44355699..44434596
AA seq 474 aa
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALC
AICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKC
FRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKK
IASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAK
GLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKL
FGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMCEW
PRPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI
NT seq 1425 nt   +upstreamnt  +downstreamnt
atgcgactctccaaaaccctcgtcgacatggacatggccgactacagtgctgcactggac
ccagcctacaccaccctggaatttgagaatgtgcaggtgttgacgatgggcaatgacacg
tccccatcagaaggcaccaacctcaacgcgcccaacagcctgggtgtcagcgccctgtgt
gccatctgcggggaccgggccacgggcaaacactacggtgcctcgagctgtgacggctgc
aagggcttcttccggaggagcgtgcggaagaaccacatgtactcctgcagatttagccgg
cagtgcgtggtggacaaagacaagaggaaccagtgccgctactgcaggctcaagaaatgc
ttccgggctggcatgaagaaggaagccgtccagaatgagcgggaccggatcagcactcga
aggtcaagctatgaggacagcagcctgccctccatcaatgcgctcctgcaggcggaggtc
ctgtcccgacagatcacctcccccgtctccgggatcaacggcgacattcgggcgaagaag
attgccagcatcgcagatgtgtgtgagtccatgaaggagcagctgctggttctcgttgag
tgggccaagtacatcccagctttctgcgagctccccctggacgaccaggtggccctgctc
agagcccatgctggcgagcacctgctgctcggagccaccaagagatccatggtgttcaag
gacgtgctgctcctaggcaatgactacattgtccctcggcactgcccggagctggcggag
atgagccgggtgtccatacgcatccttgacgagctggtgctgcccttccaggagctgcag
atcgatgacaatgagtatgcctacctcaaagccatcatcttctttgacccagatgccaag
gggctgagcgatccagggaagatcaagcggctgcgttcccaggtgcaggtgagcttggag
gactacatcaacgaccgccagtatgactcgcgtggccgctttggagagctgctgctgctg
ctgcccaccttgcagagcatcacctggcagatgatcgagcagatccagttcatcaagctc
ttcggcatggccaagattgacaacctgttgcaggagatgctgctgggagggtcccccagc
gatgcaccccatgcccaccaccccctgcaccctcacctgatgcaggaacatatgggaacc
aacgtcatcgttgccaacacaatgcccactcacctcagcaacggacagatgtgtgagtgg
ccccgacccaggggacaggcagccacccctgagaccccacagccctcaccgccaggtggc
tcagggtctgagccctataagctcctgccgggagccgtcgccacaatcgtcaagcccctc
tctgccatcccccagccgaccatcaccaagcaggaagttatctag

  All links  
Disease (4)   
   OMIM (4)   
Gene (10)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (21)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (18)   
DNA sequence (58)   
   RefSeq(nuc) (18)   
   GenBank (20)   
   EMBL (20)   
3D Structure (8)   
   PDB (8)   
Protein domain (2)   
   Pfam (2)   
All databases (103)   

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