KEGG   Homo sapiens (human): 4720Help
Entry
4720              CDS       T01001                                 

Gene name
NDUFS2, CI-49
Definition
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S2
  KO
K03935  NADH dehydrogenase (ubiquinone) Fe-S protein 2 [EC:1.6.5.3 1.6.99.3]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease (NAFLD)
hsa05010  Alzheimer's disease
hsa05012  Parkinson's disease
hsa05016  Huntington's disease
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Disease
H00473  Mitochondrial respiratory chain deficiencies (MRCD)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Energy metabolism
   00190 Oxidative phosphorylation
    4720 (NDUFS2)
 Organismal Systems
  Nervous system
   04723 Retrograde endocannabinoid signaling
    4720 (NDUFS2)
  Environmental adaptation
   04714 Thermogenesis
    4720 (NDUFS2)
 Human Diseases
  Neurodegenerative diseases
   05010 Alzheimer's disease
    4720 (NDUFS2)
   05012 Parkinson's disease
    4720 (NDUFS2)
   05016 Huntington's disease
    4720 (NDUFS2)
  Endocrine and metabolic diseases
   04932 Non-alcoholic fatty liver disease (NAFLD)
    4720 (NDUFS2)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.6  Acting on NADH or NADPH
   1.6.5  With a quinone or similar compound as acceptor
    1.6.5.3  NADH:ubiquinone reductase (H+-translocating)
     4720 (NDUFS2)
   1.6.99  With unknown physiological acceptors
    1.6.99.3  NADH dehydrogenase
     4720 (NDUFS2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Complex1_49kDa NiFeSe_Hases
Motif
Other DBs
NCBI-GeneID: 4720
NCBI-ProteinID: NP_004541
OMIM: 602985
HGNC: 7708
Ensembl: ENSG00000158864
Vega: OTTHUMG00000034344
Pharos: O75306(Tclin)
UniProt: O75306
Structure
PDB: 

Jmol
Position
1q23.3
AA seq 463 aa AA seqDB search
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAH
WKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGT
EKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGL
MDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDD
AKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPY
RCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTQDIVFGEVDR
NT seq 1392 nt NT seq  +upstreamnt  +downstreamnt
atggcggcgctgagggctttgtgcggcttccggggcgtcgcggcccaggtgctgcggcct
ggggctggagtccgattgccgattcagcccagcagaggtgttcggcagtggcagccagat
gtggaatgggcacagcagtttgggggagctgttatgtacccaagcaaagaaacagcccac
tggaagcctccaccttggaatgatgtggaccctccaaaggacacaattgtgaagaacatt
accctgaactttgggccccaacacccagcagcgcatggtgtcctgcgactagtgatggaa
ttgagtggggagatggtgcggaagtgtgatcctcacatcgggctcctgcaccgaggcact
gagaagctcattgaatacaagacctatcttcaggcccttccatactttgaccggctagac
tatgtgtccatgatgtgtaacgaacaggcctattctctagctgtggagaagttgctaaac
atccggcctcctcctcgggcacagtggatccgagtgctgtttggagaaatcacacgtttg
ttgaaccacatcatggctgtgaccacacatgccctggaccttggggccatgacccctttc
ttctggctgtttgaagaaagggagaagatgtttgagttctacgagcgagtgtctggagcc
cgaatgcatgctgcttatatccggccaggaggagtgcaccaggacctaccccttgggctt
atggatgacatttatcagttttctaagaacttctctcttcggcttgatgagttggaggag
ttgctgaccaacaataggatctggcgaaatcggacaattgacattggggttgtaacagca
gaagaagcacttaactatggttttagtggagtgatgcttcggggctcaggcatccagtgg
gacctgcggaagacccagccctatgatgtttacgaccaggttgagtttgatgttcctgtt
ggttctcgaggggactgctatgataggtacctgtgccgggtggaggagatgcgccagtcc
ctgagaattatcgcacagtgtctaaacaagatgcctcctggggagatcaaggttgatgat
gccaaagtgtctccacctaagcgagcagagatgaagacttccatggagtcactgattcat
cactttaagttgtatactgagggctaccaagttcctccaggagccacatatactgccatt
gaggctcccaagggagagtttggggtgtacctggtgtctgatggcagcagccgcccttat
cgatgcaagatcaaggctcctggttttgcccatctggctggtttggacaagatgtctaag
ggacacatgttggcagatgtcgttgccatcataggtacccaagatattgtatttggagaa
gtagatcggtga

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