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

Gene name
NDUFS2, CI-49
Definition
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (EC:1.6.5.3 1.6.99.3)
Orthology
K03935  
NADH dehydrogenase (ubiquinone) Fe-S protein 2 [EC:1.6.5.3 1.6.99.3]
Organism
hsa  Homo sapiens (human)
Pathway
Oxidative phosphorylation
Metabolic pathways
Non-alcoholic fatty liver disease (NAFLD)
Alzheimer's disease
Parkinson's disease
Huntington's disease
Module
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)
 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 other, unknown, acceptors
    1.6.99.3  NADH dehydrogenase
     4720 (NDUFS2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
1q23
AA seq 457 aa AA seqDB search
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAH
WKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGT
EKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGL
MDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDD
AKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPY
RCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTRPIV
NT seq 1374 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
ggacacatgttggcagatgtcgttgccatcataggtacgaggcctattgtgtag

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