NDUFB2

NADH:ubiquinone oxidoreductase subunit B2, the group of NADH:ubiquinone oxidoreductase supernumerary subunits

Basic information

Region (hg38): 7:140690777-140722790

Links

ENSG00000090266

∙ NCBI:4708 ∙ OMIM:603838 ∙ HGNC:7697 ∙ Uniprot:O95178 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NDUFB2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NDUFB2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			12 clinvar			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in NDUFB2

This is a list of pathogenic ClinVar variants found in the NDUFB2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
7-140690782-C-G	not specified	Uncertain significance (Dec 21, 2023)	3080896
7-140694694-T-C	not specified	Uncertain significance (Jan 31, 2025)	3832919
7-140694739-C-T	not specified	Uncertain significance (Dec 24, 2024)	3832900
7-140694757-A-G	not specified	Uncertain significance (Dec 16, 2024)	2258535
7-140694788-A-T	ADCK2-related disorder	Likely benign (Nov 11, 2022)	3053428
7-140696805-G-C	not specified	Uncertain significance (Feb 28, 2023)	3187850
7-140696806-G-A	not specified	Uncertain significance (Jan 17, 2024)	3187851
7-140696814-C-T	not specified	Uncertain significance (Aug 12, 2021)	2208003
7-140696818-C-T	not specified	Uncertain significance (Mar 03, 2025)	3878523
7-140696826-G-A	not specified	Uncertain significance (Dec 03, 2024)	3403891
7-140696828-T-G	not specified	Uncertain significance (Feb 23, 2023)	2488356
7-140702870-G-A	not specified	Uncertain significance (Jun 01, 2023)	2554877
7-140702892-C-T	not specified	Uncertain significance (Dec 15, 2023)	3187840
7-140702895-G-A	not specified	Uncertain significance (Sep 01, 2021)	2225334
7-140702922-G-A	not specified	Uncertain significance (Oct 12, 2021)	2395122
7-140704890-T-C	not specified	Uncertain significance (Jul 26, 2021)	2408599
7-140704923-G-C	not specified	Uncertain significance (Oct 29, 2021)	2350940
7-140704924-A-G	not specified	Uncertain significance (Dec 14, 2023)	3187847

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NDUFB2	protein_coding	protein_coding	ENST00000476279	3	32014

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000105	0.206	125689	0	59	125748	0.000235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.127	66	63.2	1.04	0.00000337	673
Missense in Polyphen		19	22.383	0.84886		265
Synonymous	0.632	20	23.9	0.836	0.00000139	202
Loss of Function	-0.381	7	5.99	1.17	2.57e-7	62

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000504	0.000504
Ashkenazi Jewish	0.00	0.00
East Asian	0.000398	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000284	0.000281
Middle Eastern	0.000398	0.000381
South Asian	0.0000327	0.0000327
Other	0.000651	0.000652

dbNSFP

Source: dbNSFP

Function: 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 immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:27626371}.;
Pathway: Retrograde endocannabinoid signaling - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Huntington,s disease - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Oxidative phosphorylation - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Electron Transport Chain;Oxidative phosphorylation;Respiratory electron transport;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;Complex I biogenesis;Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (Consensus)

Recessive Scores

pRec: 0.0980

Intolerance Scores

loftool: 0.543
rvis_EVS: -0.1
rvis_percentile_EVS: 46.2

Haploinsufficiency Scores

pHI: 0.0488
hipred: N
hipred_score: 0.198
ghis: 0.541

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.539

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Ndufb2
Phenotype

Gene ontology

Biological process: mitochondrial electron transport, NADH to ubiquinone;mitochondrial respiratory chain complex I assembly
Cellular component: mitochondrial inner membrane;mitochondrial respiratory chain complex I
Molecular function: NADH dehydrogenase (ubiquinone) activity