NDUFB5

NADH:ubiquinone oxidoreductase subunit B5, the group of NADH:ubiquinone oxidoreductase supernumerary subunits

Basic information

Region (hg38): 3:179604690-179627647

Links

ENSG00000136521

∙ NCBI:4711 ∙ OMIM:603841 ∙ HGNC:7700 ∙ Uniprot:O43674 ∙ 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 NDUFB5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NDUFB5 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				1 clinvar		1
missense			11 clinvar			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	0

Variants in NDUFB5

This is a list of pathogenic ClinVar variants found in the NDUFB5 region.

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

Position	Phenotype	Significance	ClinVar
3-179604879-C-G	not specified	Uncertain significance (Feb 06, 2023)	2480780
3-179604885-G-A	not specified	Uncertain significance (Aug 01, 2024)	3403893
3-179604901-T-G	not specified	Uncertain significance (Apr 18, 2024)	3299059
3-179604907-G-A	not specified	Uncertain significance (Mar 07, 2024)	3187912
3-179614982-C-A	not specified	Uncertain significance (Aug 11, 2023)	2597467
3-179615019-G-C	not specified	Uncertain significance (Mar 14, 2023)	2496264
3-179616007-A-T	not specified	Uncertain significance (Sep 26, 2024)	3403895
3-179617005-T-G	not specified	Uncertain significance (Aug 28, 2024)	3403894
3-179617040-A-G	not specified	Uncertain significance (May 18, 2023)	2549169
3-179618481-A-G	not specified	Uncertain significance (Oct 01, 2024)	3403896
3-179618490-C-T	not specified	Uncertain significance (Jul 27, 2022)	2388743
3-179618520-C-T	not specified	Uncertain significance (Oct 26, 2021)	2204593
3-179623939-C-A	not specified	Likely benign (Jan 22, 2024)	3187893
3-179623940-G-A	not specified	Uncertain significance (Aug 12, 2021)	2380365
3-179623993-G-A	not specified	Uncertain significance (Dec 18, 2023)	3187900
3-179623994-A-G	not specified	Uncertain significance (Sep 08, 2024)	3403892
3-179624005-A-G	not specified	Uncertain significance (Jul 26, 2021)	2348874
3-179624018-C-T	not specified	Uncertain significance (Sep 17, 2021)	2354305

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NDUFB5	protein_coding	protein_coding	ENST00000259037	6	22958

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000731	0.775	125723	0	11	125734	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0123	106	106	1.00	0.00000539	1200
Missense in Polyphen		35	37.019	0.94547		417
Synonymous	-0.397	40	36.9	1.08	0.00000176	374
Loss of Function	1.02	6	9.38	0.640	4.62e-7	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000230	0.000230
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000981	0.0000980
Other	0.00	0.00

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: 0.150

Intolerance Scores

loftool: 0.565
rvis_EVS: 0.15
rvis_percentile_EVS: 64.11

Haploinsufficiency Scores

pHI: 0.103
hipred: N
hipred_score: 0.167
ghis: 0.498

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: E
essential_gene_gene_trap: H
gene_indispensability_pred: E
gene_indispensability_score: 0.925

Mouse Genome Informatics

Gene name: Ndufb5
Phenotype

Gene ontology

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