Gene Report

Basic Info
Approved Symbol NDUFV2
Symbol Alias CI-24k
Approved Name NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
Previous Name NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)
Name Alias complex I 24kDa subunit, "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"
Location 18p11.22
Position chr18:9102630-9134345, 1
External Links HGNC: 7717
Entrez Gene: 4729
Ensembl: ENSG00000178127
UCSC: uc002knu.3
No. of Studies 6 (Positive: 5; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? NO
Gene related studies (count: 6)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Zhang, J.,2009 SNP: rs1156044, rs4148965, rs6506640, rs906807, rs977581
Haplotype: rs6506640 - rs906807(A-C), rs6506640 - rs906807(A-T), rs6506640 - rs906807(G-T)
In summary, we found that the haplotype rs6506640-rs906807 of NDUFV2 was associated with bipolar disorder in the Chinese Han population and that rs906807 may possibly be associated with bipolar disorder in females. Positive Comment on Study
Doyle, G. A.,2011 SNP: rs1156044, rs2377961, rs906807
Haplotype: rs1156044 - rs906807(A-C), rs1156044 - rs906807(A-T), rs1156044 - rs906807(G-T)
We cautiously conclude that NDUFV2 may be associated with BPDI in this Caucasian population. Positive Comment on Study
Yosifova, A.,2009 SNP: rs906807 No SNP of this gene had significant association with BD in our population. Negative Comment on Study
Xu, C., 2008 SNP: rs1156044, rs11661859, rs11872481, rs12454936, rs2279992, rs977581 Statistically significant increased frequency of allele A of the SNP rs1156044 was observed in the BD group as a whole [84.7%; odds ratio (OR) = 2.44, p = 0.013) and in the BD I subgroup (85.3%; OR = 2.55, p = 0.014), compared to healthy controls (69.4%).. While genetic variants of NDUFV2 may increase risk for BD, the role of its altered expression and the link to intracellular Ca<sup>2+</sup> abnormalities in BD remains equivocal. Positive Comment on Study
Washizuka, S.,2003 Haplotype: (NDUFV2_86C>T) - (NDUFV2_-796C>G) - (NDUFV2_-602G>A) - (NDUFV2_-233T>C)()
Other variant: NDUFV2_-233T>C, NDUFV2_-796C>G, NDUFV2_86C>T, NDUFV2_-602G>A
Our findings suggest that polymorphisms of the NDUFV2 gene may be one of the genetic risk factors for bipolar disorder. Positive Comment on Study
Washizuka, S., 2004 Haplotype: NDUFV2_-1020G>T - NDUFV2_-796C>G(), NDUFV2_-1020G>T - NDUFV2_-796C>G - NDUFV2_-602G>A(), NDUFV2_-233T>C - NDUFV2_86C>T(), NDUFV2_-2694A>G - NDUFV2_-1020G>T(), NDUFV2_-2694A>G - NDUFV2_-1020G>T - NDUFV2_-796C>G(), NDUFV2_-3041T>G - NDUFV2_-2694A>G(), NDUFV2_-3041T>G - NDUFV2_-2694A>G - NDUFV2_-1020G>T(), NDUFV2_-3245T>C - NDUFV2_-3041T>G(), NDUFV2_-3245T>C - NDUFV2_-3041T>G - NDUFV2_-2694A>G(), NDUFV2_-3542G>A - NDUFV2_-3245T>C(), NDUFV2_-3542G>A - NDUFV2_-3245T>C - NDUFV2_-3041T>G(), NDUFV2_-3542G>A - NDUFV2_-602G>A(A-A ), NDUFV2_-3542G>A - NDUFV2_-602G>A(G-A ), NDUFV2_-3542G>A - NDUFV2_-602G>A(A-G ), NDUFV2_-3542G>A - NDUFV2_-602G>A(G-G ), NDUFV2_-602G>A - NDUFV2_-233T>C(), NDUFV2_-602G>A - NDUFV2_-233T>CNDUFV2_86C>T(), NDUFV2_-796C>G - NDUFV2_-602G>A(), NDUFV2_-796C>G - NDUFV2_-602G>A - NDUFV2_-233T>C()
Other variant: NDUFV2_-3041T>G, NDUFV2_-2694A>G, NDUFV2_-3245T>C, NDUFV2_-3542G>A, NDUFV2_-1020G>T, NDUFV2_-233T>C, NDUFV2_-602G>A, NDUFV2_-796C>G, NDUFV2_86C>T
Together these findings indicate that the polymorphisms in the promoter region of NDUFV2 are a genetic risk factor for bipolar disorder by affecting promoter activity. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 14)

GO terms by PBA (count: 1)

GO terms by database search (count: 13)

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Related other genetic factors
Gene related SNPs (count: 25)

Literature-origin SNPs (count: 10)

LD-proxies (count: 15)

Gene related CNVs (count: 0)

Gene related other variants (count: 9)

Gene related regions (count: 5)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 2)

Gene relationship with MDD

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Region: chr18:9102630..9134345 View in gBrowse
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