KEGG   Homo sapiens (human): 4695
Entry
4695              CDS       T01001                                 

Gene name
NDUFA2, B8, CD14, CIB8, MC1DN13
Definition
(RefSeq) NADH:ubiquinone oxidoreductase subunit A2
  KO
K03946  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
Network
nt06418  Oxidative phosphorylation
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4695 (NDUFA2)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4695 (NDUFA2)
  09159 Environmental adaptation
   04714 Thermogenesis
    4695 (NDUFA2)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4695 (NDUFA2)
   05012 Parkinson disease
    4695 (NDUFA2)
   05014 Amyotrophic lateral sclerosis
    4695 (NDUFA2)
   05016 Huntington disease
    4695 (NDUFA2)
   05020 Prion disease
    4695 (NDUFA2)
   05022 Pathways of neurodegeneration - multiple diseases
    4695 (NDUFA2)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4695 (NDUFA2)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4695 (NDUFA2)
SSDB
Motif
Pfam: L51_S25_CI-B8
Other DBs
NCBI-GeneID: 4695
NCBI-ProteinID: NP_002479
OMIM: 602137
HGNC: 7685
Ensembl: ENSG00000131495
Vega: OTTHUMG00000129505
Pharos: O43678(Tclin)
UniProt: O43678
Structure
PDB: 
5XTB 5XTD 1S3A

Position
5q31.3
AA seq 99 aa
MAAAAASRGVGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVELKKANPDLPILIRECSD
VQPKLWARYAFGQETNVPLNNFSADQVTRALENVLSGKA
NT seq 300 nt   +upstreamnt  +downstreamnt
atggcggcggccgcagcaagtcgaggagtcggggcaaagctgggcctgcgtgagattcgc
atccacttatgtcagcgctcgcccggcagccagggcgtcagggacttcattgagaaacgc
tacgtggagctgaagaaggcgaatcccgacctacccatcctaatccgcgaatgctccgat
gtgcagcccaagctctgggcccgctacgcatttggccaagagacgaatgtccctttgaac
aacttcagtgctgatcaggtaaccagagccctggagaacgttctaagtggtaaagcctga

DBGET integrated database retrieval system