Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4709
Gene name Gene Name - the full gene name approved by the HGNC.
NADH:ubiquinone oxidoreductase subunit B3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDUFB3
Synonyms (NCBI Gene) Gene synonyms aliases
B12, CI-B12, MC1DN25
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MC1DN25
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondr
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs142609245 T>C Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs144513268 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs200800978 G>T Likely-pathogenic, pathogenic Coding sequence variant, stop gained
rs747403932 C>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1553535063 T>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT040891 hsa-miR-18a-3p CLASH 23622248
MIRT1178976 hsa-miR-4642 CLIP-seq
MIRT2280893 hsa-miR-185 CLIP-seq
MIRT2280894 hsa-miR-3653 CLIP-seq
MIRT2280895 hsa-miR-3658 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0005747 Component Mitochondrial respiratory chain complex I IBA 21873635
GO:0005747 Component Mitochondrial respiratory chain complex I IDA 12611891, 27626371
GO:0005747 Component Mitochondrial respiratory chain complex I NAS 9878551
GO:0006120 Process Mitochondrial electron transport, NADH to ubiquinone NAS 9878551
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603839 7698 ENSG00000119013
Protein
UniProt ID O43676
Protein name NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 (Complex I-B12) (CI-B12) (NADH-ubiquinone oxidoreductase B12 subunit)
Protein function Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediat
PDB 5XTC , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08122 NDUF_B12 42 98 NADH-ubiquinone oxidoreductase B12 subunit family Family
Sequence
MAHEHGHEHGHHKMELPDYRQWKIEGTPLETIQKKLAAKGLRDPWGRNEAWRYMGGFAKS
VSFSDVFFKGFKWGFAAFVVAVGAEYYLESLNKDKKHH
Sequence length 98
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Retrograde endocannabinoid signaling
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  Respiratory electron transport
Complex I biogenesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diabetes mellitus Diabetes Mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Epileptic encephalopathy Encephalopathies rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Mitochondrial Complex Deficiency mitochondrial complex 1 deficiency, nuclear type 25, mitochondrial complex I deficiency GenCC
Mitochondrial Diseases mitochondrial disease GenCC
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 26125932, 35699875
Autoimmune Lymphoproliferative Syndrome Associate 22306884
Carcinoma Ovarian Epithelial Associate 36412414
Cardiomyopathy Hypertrophic Associate 370596
Cerebral Small Vessel Diseases Associate 35699875
Disease Associate 22277967
Fatty Liver Alcoholic Associate 31000363
Growth Disorders Associate 27091925
Homocystinuria Associate 33797888
Hypersensitivity Immediate Associate 27091925