NDUFV2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NDUFV2 (HGNC:7717) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- NADH:ubiquinone oxidoreductase core subunit V2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- CI-24k
- %HI
- 15.31(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.01(Read more about gnomAD pLI score)
- LOEUF
- 0.83(Read more about gnomAD LOEUF score)
- Cytoband
- 18p11.22
- Genomic Coordinates
-
GRCh37/hg19: chr18:9102697-9134339 NCBI Ensembl UCSC GRCh38/hg38: chr18:9102699-9134341 NCBI Ensembl UCSC - MANE Select Transcript
- NM_021074.5 ENST00000318388.11 (Read more about MANE Select)
- Function
- Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (Probable). Parts of the peripheral arm of the enzyme, where the electrons from NADH are accepted by flavin mononucleotide (FMN) and then passed along a chain of iron-sulfur clusters by electron tunnelling to the final acceptor ubiquinone (Probable). Contains one iron-sulfur cluster (Probabl... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28678
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- mitochondrial complex I deficiency, nuclear type 1 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000018.9)
(NC_000018.10)