NDUFB3 (NADH:ubiquinone oxidoreductase subunit B3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4709
Gene name NADH:ubiquinone oxidoreductase subunit B3
Gene symbol NDUFB3
Synonyms (NCBI Gene)
B12CI-B12MC1DN25
Chromosome 2
Chromosome location 2q33.1
Summary 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.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
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.
8
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (8)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 28844695
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603839 7698 ENSG00000119013
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex I deficiency Likely pathogenic; Pathogenic rs142609245 RCV000504444
Mitochondrial complex I deficiency, nuclear type 25 Likely pathogenic; Pathogenic rs2125534701, rs2125534778, rs142609245 RCV002225207
RCV002272809
RCV000735413
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs144629284 RCV005903931
Death in childhood Uncertain significance rs1575544444 RCV000991317
Developmental cataract Uncertain significance rs1575544444 RCV000991317
Developmental regression Uncertain significance rs1575544444 RCV000991317
Show/Hide Text Mining Associations (23)
Associations from Text MiningDisease associations identified through Pubtator
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