Gene Page: IMMP2L

Summary ?
GeneID83943
SymbolIMMP2L
SynonymsIMMP2L-IT1|IMP2|IMP2-LIKE
Descriptioninner mitochondrial membrane peptidase subunit 2
ReferenceMIM:605977|HGNC:HGNC:14598|Ensembl:ENSG00000184903|HPRD:07297|Vega:OTTHUMG00000155023
Gene typeprotein-coding
Map location7q31
Pascal p-value3.587E-7
Sherlock p-value0.626
Fetal beta-0.17

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWAScatGenome-wide Association StudiesThis data set includes 560 SNPs associated with schizophrenia. A total of 486 genes were mapped to these SNPs within 50kb.
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGC128Genome-wide Association StudyA multi-stage schizophrenia GWAS of up to 36,989 cases and 113,075 controls. Reported by the Schizophrenia Working Group of PGC. 128 independent associations spanning 108 loci
CV:PGCnpGenome-wide Association StudyGWAS
CV:PheWASPhenome-wide association studies (PheWAS)157 SNPs associated with schizophrenia 2
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@CV:PGC128

SNP IDChromosomePositionAllelePFunctionGeneUp/Down Distance
rs13240464chr7110898915TC6.162E-13intronicIMMP2L
rs211829chr7110048893TC5.471E-7intergenicEIF3IP1,IMMP2Ldist=448623;dist=254213

@CV:PheWAS

SNP IDChromosomePositionAllelePFunctionGeneUp/Down Distance
rs125316407110479535null1.624IMMP2Lnull
rs102795737110467221null1.584IMMP2Lnull


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0008236serine-type peptidase activityIEAglutamate (GO term level: 6)-
GO:0008233peptidase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006508proteolysisIEA-
GO:0006627mitochondrial protein processing during importIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005739mitochondrionIEA-
GO:0016020membraneIEA-
GO:0016021integral to membraneIEA-
GO:0042720mitochondrial inner membrane peptidase complexIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG PROTEIN EXPORT 2416All SZGR 2.0 genes in this pathway
SHETH LIVER CANCER VS TXNIP LOSS PAM4 261153All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP 769437All SZGR 2.0 genes in this pathway
JIANG HYPOXIA NORMAL 311205All SZGR 2.0 genes in this pathway
MARTINEZ RESPONSE TO TRABECTEDIN DN 271175All SZGR 2.0 genes in this pathway
MONNIER POSTRADIATION TUMOR ESCAPE DN 373196All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS DN 543317All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS UP 602364All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS UP 601369All SZGR 2.0 genes in this pathway
MATZUK PREOVULATORY FOLLICLE 108All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 UP 344215All SZGR 2.0 genes in this pathway