Gene Report

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Basic Info

Approved Symbol	IMMP2L
Previous Symbol	IMMP2L-IT1
Symbol Alias	IMP2
Approved Name	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
Previous Name	IMP2 inner mitochondrial membrane protease-like (S. cerevisiae), "IMMP2L intronic transcript 1 (non-protein coding)"
Location	7q31
Position	chr7:110663051-111562517, -1
External Links	HGNC: 14598 Entrez Gene: 83943 Ensembl: ENSG00000184903 UCSC: uc010ljr.2
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Noor A., 2014		Deletions involving the IMMP2L gene were identified in five unrelated cases.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008233	peptidase activity	molecular function	ISS[15814844]	4
GO:0042720	mitochondrial inner membrane peptidase complex	cellular component	ISS[15814844]	1
GO:0008236	serine-type peptidase activity	molecular function	IEA	9
GO:0006627	protein processing involved in protein targeting to mitochondrion	biological process	ISS[15814844]	1
GO:0007283	spermatogenesis	biological process	IEA	29
GO:0006508	proteolysis	biological process	IEA	34
GO:0001541	ovarian follicle development	biological process	IEA	4
GO:0030728	ovulation	biological process	IEA	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 6)

ID	Location	Size	Band	Type
CNV_Zhang[2009]_160	chr7:110030843-110177415 (Affymetrix SNP 6.0 array reference genome)	146572		Singleton deletions
CNV_Abdul Noor[2014]_30	chr7:110866148-111029397 (NCBI Build 36/hg18)	163000	7q31.1	deletion
CNV_Abdul Noor[2014]_29	chr7:110810558-111103676 (NCBI Build 36/hg18)	293000	7q31.1	deletion
CNV_Abdul Noor[2014]_31	chr7:110866148-110987007 (NCBI Build 36/hg18)	120000	7q31.1	deletion
CNV_Abdul Noor[2014]_10	chr7:110617273-111138748 (NCBI Build 36/hg18)	521000	6q26	deletion
CNV_Abdul Noor[2014]_28	chr7:110765939-110953401 (NCBI Build 36/hg18)	187000	7q31.1	deletion

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
7q21-31	chr7:77900000-127500000	1 (1/0/0)
Chr 7	chr7:0-159345973	3 (0/3/0)
7q31-33	chr7:107800000-138500000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr7:110663051..111562517 View in gBrowse