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IMMP2L (inner mitochondrial membrane peptidase subunit 2)

Identity

Alias (NCBI)IMMP2L-IT1
IMP2
IMP2-LIKE
HGNC (Hugo) IMMP2L
HGNC Alias symbIMP2
HGNC Previous nameIMMP2L-IT1
HGNC Previous nameIMP2 inner mitochondrial membrane protease-like (S. cerevisiae)
 IMMP2L intronic transcript 1 (non-protein coding)
 IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
LocusID (NCBI) 83943
Atlas_Id 56152
Location 7q31.1  [Link to chromosome band 7q31]
Location_base_pair Starts at 110662644 and ends at 111562492 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DOCK4 (7q31.1) / IMMP2L (7q31.1)IMMP2L (7q31.1) / C3 (19p13.3)IMMP2L (7q31.1) / DYNC1I1 (7q21.3)
IMMP2L (7q31.1) / KIRREL (1q23.1)IMMP2L (7q31.1) / PHLDB2 (3q13.2)MKLN1 (7q32.3) / IMMP2L (7q31.1)
NEDD4L (18q21.31) / IMMP2L (7q31.1)PILRB (7q22.1) / IMMP2L (7q31.1)SMC5 (9q21.12) / IMMP2L (7q31.1)
SORBS1 (10q24.1) / IMMP2L (7q31.1)WDR74 (11q12.3) / IMMP2L (7q31.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;14)(q31;q32) IGH/IMMP2L


External links

 

Nomenclature
HGNC (Hugo)IMMP2L   14598
Cards
Entrez_Gene (NCBI)IMMP2L    inner mitochondrial membrane peptidase subunit 2
AliasesIMMP2L-IT1; IMP2; IMP2-LIKE
GeneCards (Weizmann)IMMP2L
Ensembl hg19 (Hinxton)ENSG00000184903 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184903 [Gene_View]  ENSG00000184903 [Sequence]  chr7:110662644-111562492 [Contig_View]  IMMP2L [Vega]
ICGC DataPortalENSG00000184903
TCGA cBioPortalIMMP2L
AceView (NCBI)IMMP2L
Genatlas (Paris)IMMP2L
SOURCE (Princeton)IMMP2L
Genetics Home Reference (NIH)IMMP2L
Genomic and cartography
GoldenPath hg38 (UCSC)IMMP2L  -     chr7:110662644-111562492 -  7q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IMMP2L  -     7q31.1   [Description]    (hg19-Feb_2009)
GoldenPathIMMP2L - 7q31.1 [CytoView hg19]  IMMP2L - 7q31.1 [CytoView hg38]
ImmunoBaseENSG00000184903
Genome Data Viewer NCBIIMMP2L [Mapview hg19]  
OMIM605977   
Gene and transcription
Genbank (Entrez)AF359563 AI674788 AK311968 BC008497 BM696399
RefSeq transcript (Entrez)NM_001244606 NM_001350959 NM_001350960 NM_001350961 NM_001350962 NM_001350963 NM_001350964 NM_032549
Consensus coding sequences : CCDS (NCBI)IMMP2L
Gene ExpressionIMMP2L [ NCBI-GEO ]   IMMP2L [ EBI - ARRAY_EXPRESS ]   IMMP2L [ SEEK ]   IMMP2L [ MEM ]
Gene Expression Viewer (FireBrowse)IMMP2L [ Firebrowse - Broad ]
GenevisibleExpression of IMMP2L in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83943
GTEX Portal (Tissue expression)IMMP2L
Human Protein AtlasENSG00000184903-IMMP2L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96T52   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96T52  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96T52
Catalytic activity : Enzyme3.4.21.- [ Enzyme-Expasy ]   3.4.21.-3.4.21.- [ IntEnz-EBI ]   3.4.21.- [ BRENDA ]   3.4.21.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ96T52
Domaine pattern : Prosite (Expaxy)SPASE_I_3 (PS00761)   
Domains : Interpro (EBI)IMP2    LexA/Signal_pep-like_sf    Pept_S26A_signal_pept_1    Pept_S26A_signal_pept_1_CS    Peptidase_S26   
Domain families : Pfam (Sanger)Peptidase_S26 (PF10502)   
Domain families : Pfam (NCBI)pfam10502   
Conserved Domain (NCBI)IMMP2L
SuperfamilyQ96T52
AlphaFold pdb e-kbQ96T52   
Human Protein Atlas [tissue]ENSG00000184903-IMMP2L [tissue]
HPRD07297
Protein Interaction databases
DIP (DOE-UCLA)Q96T52
IntAct (EBI)Q96T52
BioGRIDIMMP2L
STRING (EMBL)IMMP2L
ZODIACIMMP2L
Ontologies - Pathways
QuickGOQ96T52
Ontology : AmiGOovarian follicle development  serine-type endopeptidase activity  signal peptide processing  protein processing involved in protein targeting to mitochondrion  protein processing involved in protein targeting to mitochondrion  superoxide metabolic process  cellular response to DNA damage stimulus  spermatogenesis  brain development  blood circulation  peptidase activity  integral component of membrane  respiratory electron transport chain  ovulation  mitochondrial respiratory chain complex assembly  mitochondrial inner membrane peptidase complex  mitochondrial inner membrane peptidase complex  cerebellum vasculature development  
Ontology : EGO-EBIovarian follicle development  serine-type endopeptidase activity  signal peptide processing  protein processing involved in protein targeting to mitochondrion  protein processing involved in protein targeting to mitochondrion  superoxide metabolic process  cellular response to DNA damage stimulus  spermatogenesis  brain development  blood circulation  peptidase activity  integral component of membrane  respiratory electron transport chain  ovulation  mitochondrial respiratory chain complex assembly  mitochondrial inner membrane peptidase complex  mitochondrial inner membrane peptidase complex  cerebellum vasculature development  
Pathways : KEGGProtein export   
NDEx NetworkIMMP2L
Atlas of Cancer Signalling NetworkIMMP2L
Wikipedia pathwaysIMMP2L
Orthology - Evolution
OrthoDB83943
GeneTree (enSembl)ENSG00000184903
Phylogenetic Trees/Animal Genes : TreeFamIMMP2L
Homologs : HomoloGeneIMMP2L
Homology/Alignments : Family Browser (UCSC)IMMP2L
Gene fusions - Rearrangements
Fusion : QuiverIMMP2L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIMMP2L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IMMP2L
dbVarIMMP2L
ClinVarIMMP2L
MonarchIMMP2L
1000_GenomesIMMP2L 
Exome Variant ServerIMMP2L
GNOMAD BrowserENSG00000184903
Varsome BrowserIMMP2L
ACMGIMMP2L variants
VarityQ96T52
Genomic Variants (DGV)IMMP2L [DGVbeta]
DECIPHERIMMP2L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIMMP2L 
Mutations
ICGC Data PortalIMMP2L 
TCGA Data PortalIMMP2L 
Broad Tumor PortalIMMP2L
OASIS PortalIMMP2L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIMMP2L  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DIMMP2L
Mutations and Diseases : HGMDIMMP2L
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaIMMP2L
DgiDB (Drug Gene Interaction Database)IMMP2L
DoCM (Curated mutations)IMMP2L
CIViC (Clinical Interpretations of Variants in Cancer)IMMP2L
Cancer3DIMMP2L
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605977   
Orphanet
DisGeNETIMMP2L
MedgenIMMP2L
Genetic Testing Registry IMMP2L
NextProtQ96T52 [Medical]
GENETestsIMMP2L
Target ValidationIMMP2L
Huge Navigator IMMP2L [HugePedia]
ClinGenIMMP2L
Clinical trials, drugs, therapy
MyCancerGenomeIMMP2L
Protein Interactions : CTDIMMP2L
Pharm GKB GenePA134887258
PharosQ96T52
Clinical trialIMMP2L
Miscellaneous
canSAR (ICR)IMMP2L
HarmonizomeIMMP2L
DataMed IndexIMMP2L
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXIMMP2L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:13:55 CEST 2021

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