Gene Report

Basic Info
Approved Symbol IMPA2
Approved Name inositol(myo)-1(or 4)-monophosphatase 2
Location 18p11.2
Position chr18:11981025-12030883, 1
External Links HGNC: 6051
Entrez Gene: 3613
Ensembl: ENSG00000141401
UCSC: uc002kqp.2
No. of Studies 4 (Positive: 2; Negative: 2; trend: 0)
Overlap with SZ? YES
Overlap with MDD? NO
Gene related studies (count: 4)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Bloch, P. J., 2010 SNP: rs1787984, rs3786285, rs3974759, rs585247, rs589247, rs613993, rs636173, rs650727, rs669838
Haplotype: rs1787984 - rs585247 - rs3974759(ATT), rs1787984 - rs585247 - rs3974759(GCA), rs1787984 - rs585247 - rs3974759(HTA), rs1787984 - rs585247 - rs3974759(ATA), rs1787984 - rs585247 - rs3974759(GTT), rs650727 - rs589247 - rs669838 - rs636173(CGGG), rs650727 - rs589247 - rs669838 - rs636173(TATA), rs650727 - rs589247 - rs669838 - rs636173(CGTA)
Our study did not show strong support for an association between the tested IMPA2 polymorphisms and susceptibility to BPD. Negative Comment on Study
Dimitrova, A.,2005 SNP: rs3786282
Other variant: IMPA2_443G>A (R148Q), IMPA2_-461C>T, IMPA2_599+97G>A, IMPA2_599+99G>A, IMPA2_-97-15G>A
No SNP showed association with BP. We cannot find support for the involvement of variation in IMPA2 in susceptibility to bipolar disorder, but the role of this and other genes from the phosphoinositol signalling pathway in predicting response to lithium treatment merits further investigation. Negative Comment on Study
Ohnishi, T., 2007 SNP: rs11545506, rs2075824, rs2075825, rs3786282, rs3786284, rs3786291, rs594235, rs607200, rs613993, rs640088, rs644710, rs971362, rs971363
Haplotype: IMPA2_-708G>A - rs2075824(), IMPA2_-708G>A - rs2075824 - IMPA2_-207T>C(), rs2075824 - IMPA2_-207T>C(), rs971362 - IMPA2_-708G>A(), rs971362 - IMPA2_-708G>A - rs2075824(), rs971362 - IMPA2_-708G>A - rs2075824 - IMPA2_-207T>C - IMPA2_-185A>G(T-A-T-C-G), rs971362 - IMPA2_-708G>A - rs2075824 - IMPA2_-207T>C - IMPA2_-185A>G(T-G-T-C-G), rs971362 - IMPA2_-708G>A - rs2075824 - IMPA2_-207T>C - IMPA2_-185A>G(G-G-C-T-G), rs971362 - IMPA2_-708G>A - rs2075824 - IMPA2_-207T>C - IMPA2_-185A>G(G-G-C-T-A)
Other variant: IMPA2_-207T>C, IMPA2_-185A>G, IMPA2_-708G>A, IMPA2_IVS1-15G>A, IMPA2_IVS5+13-14InsA
We observed association of IMPA2 promoter single nucleotide polymorphisms (SNPs) (-461C and -207T) with bipolar disorder; in vitro promoter assay and genetic haplotype analysis showed that the combination of (-461C)-(-207T)-(-185A) drove enhanced transcription and the haplotypes containing (-461C)-(-207T)-(-185A) contributed to risk for bipolar disorder; expression study on post-mortem brains revealed increased transcription from the IMPA2 allele that harbored (-461C)-(-207T)-(-185A) in the frontal cortex of bipolar disorder patients. Positive Comment on Study
Sjoholt, G., 2004 Haplotype: IMPA2_159T>C - IMPA2_230+141G>A - IMPA2_382 - 44G>A(T-G-G), IMPA2_-185A>G - IMPA2_-97 - 15G>A - IMPA2_159T>C(A-G-T), IMPA2_-207T>C - IMPA2_-185A>G - IMPA2_-97 - 15G>A(T-A-G), IMPA2_230+141G>A - IMPA2_382 - 44G>A - IMPA2_443G>A (R148Q)(G-G-G), IMPA2_382 - 44G>A - IMPA2_443G>A (R148Q) - IMPA2_490+13_14insA(G-G-0), IMPA2_-461C>T - IMPA2_-241_-237dup - IMPA2_-207T>C - IMPA2_-185A>G(C-0-T), IMPA2_-461C>T - IMPA2_-241_-237dup - IMPA2_-207T>C - IMPA2_-185A>G(0-T-A), IMPA2_-461C>T - IMPA2_-241_-237dup - IMPA2_-207T>C - IMPA2_-185A>G(C-0-T-A ), IMPA2_-461C>T - IMPA2_-241_-237dup - IMPA2_-207T>C - IMPA2_-185A>G(C-0-T-G ), IMPA2_-461C>T - IMPA2_-241_-237dup - IMPA2_-207T>C - IMPA2_-185A>G(T-0-C-G ), IMPA2_-461C>T - IMPA2_-241_-237dup - IMPA2_-207T>C - IMPA2_-185A>G(T-D-C-G ), IMPA2_-97-15G>A - IMPA2_159T>C - IMPA2_230+141G>A(G-T-G)
Other variant: IMPA2_159T>C, IMPA2_230+141G>A, IMPA2_382-44G>A, IMPA2_443G>A (R148Q), IMPA2_490+13_14insA, IMPA2_-97-15G>A, IMPA2_-207T>C, IMPA2_-461C>T, IMPA2_-185A>G, IMPA2_-241_-237dup
The association between manic-depressive illness and IMPA2 variants supports several reports on the linkage of bipolar disorder to chromosome 18p11.2, and sustains the possible role of IMPA2 as a susceptibility gene in bipolar disorder. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 15)

GO terms by PBA (count: 0)

GO terms by database search (count: 15)

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 2)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Related other genetic factors
Gene related SNPs (count: 66)

Literature-origin SNPs (count: 21)

LD-proxies (count: 45)

Gene related CNVs (count: 0)

Gene related other variants (count: 15)

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: 1)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Gene relationship with MDD

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Region: chr18:11981025..12030883 View in gBrowse
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