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IMMP2L (inner mitochondrial membrane peptidase subunit 2)

Identity

Alias_namesIMMP2L-IT1
IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)
IMMP2L intronic transcript 1 (non-protein coding)
IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
Alias_symbol (synonym)IMP2
Other aliasIMP2-LIKE
HGNC (Hugo) IMMP2L
LocusID (NCBI) 83943
Atlas_Id 56152
Location 7q31.1  [Link to chromosome band 7q31]
Location_base_pair Starts at 110303106 and ends at 111202573 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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

 


External links

Nomenclature
HGNC (Hugo)IMMP2L   14598
Cards
Entrez_Gene (NCBI)IMMP2L  83943  inner mitochondrial membrane peptidase subunit 2
AliasesIMMP2L-IT1; IMP2; IMP2-LIKE
GeneCards (Weizmann)IMMP2L
Ensembl hg19 (Hinxton)ENSG00000184903 [Gene_View]  chr7:110303106-111202573 [Contig_View]  IMMP2L [Vega]
Ensembl hg38 (Hinxton)ENSG00000184903 [Gene_View]  chr7:110303106-111202573 [Contig_View]  IMMP2L [Vega]
ICGC DataPortalENSG00000184903
TCGA cBioPortalIMMP2L
AceView (NCBI)IMMP2L
Genatlas (Paris)IMMP2L
WikiGenes83943
SOURCE (Princeton)IMMP2L
Genetics Home Reference (NIH)IMMP2L
Genomic and cartography
GoldenPath hg19 (UCSC)IMMP2L  -     chr7:110303106-111202573 -  7q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IMMP2L  -     7q31.1   [Description]    (hg38-Dec_2013)
EnsemblIMMP2L - 7q31.1 [CytoView hg19]  IMMP2L - 7q31.1 [CytoView hg38]
Mapping of homologs : NCBIIMMP2L [Mapview hg19]  IMMP2L [Mapview hg38]
OMIM605977   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001244606 NM_032549
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IMMP2L
Cluster EST : UnigeneHs.731706 [ NCBI ]
CGAP (NCI)Hs.731706
Alternative Splicing GalleryENSG00000184903
Gene ExpressionIMMP2L [ NCBI-GEO ]   IMMP2L [ EBI - ARRAY_EXPRESS ]   IMMP2L [ SEEK ]   IMMP2L [ MEM ]
Gene Expression Viewer (FireBrowse)IMMP2L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83943
GTEX Portal (Tissue expression)IMMP2L
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
Splice isoforms : SwissVarQ96T52
Catalytic activity : Enzyme3.4.21.- [ Enzyme-Expasy ]   3.4.21.-3.4.21.- [ IntEnz-EBI ]   3.4.21.- [ BRENDA ]   3.4.21.- [ KEGG ]   
PhosPhoSitePlusQ96T52
Domaine pattern : Prosite (Expaxy)SPASE_I_3 (PS00761)   
Domains : Interpro (EBI)Pept_S26A_signal_pept_1    Pept_S26A_signal_pept_1_CS    Peptidase_S24/S26_b-rbn    Peptidase_S24_S26    Peptidase_S24_S26A/B/C   
Domain families : Pfam (Sanger)Peptidase_S24 (PF00717)   
Domain families : Pfam (NCBI)pfam00717   
Conserved Domain (NCBI)IMMP2L
DMDM Disease mutations83943
Blocks (Seattle)IMMP2L
SuperfamilyQ96T52
Human Protein AtlasENSG00000184903
Peptide AtlasQ96T52
HPRD07297
IPIIPI00045908   IPI00157157   IPI00924518   IPI00925589   
Protein Interaction databases
DIP (DOE-UCLA)Q96T52
IntAct (EBI)Q96T52
FunCoupENSG00000184903
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
HOVERGENQ96T52
HOGENOMQ96T52
Homologs : HomoloGeneIMMP2L
Homology/Alignments : Family Browser (UCSC)IMMP2L
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIMMP2L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IMMP2L
dbVarIMMP2L
ClinVarIMMP2L
1000_GenomesIMMP2L 
Exome Variant ServerIMMP2L
ExAC (Exome Aggregation Consortium)IMMP2L (select the gene name)
Genetic variants : HAPMAP83943
Genomic Variants (DGV)IMMP2L [DGVbeta]
DECIPHER (Syndromes)7:110303106-111202573  ENSG00000184903
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]  
Mutations and Diseases : HGMDIMMP2L
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch IMMP2L
DgiDB (Drug Gene Interaction Database)IMMP2L
DoCM (Curated mutations)IMMP2L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IMMP2L (select a term)
intoGenIMMP2L
Cancer3DIMMP2L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605977   
Orphanet
MedgenIMMP2L
Genetic Testing Registry IMMP2L
NextProtQ96T52 [Medical]
TSGene83943
GENETestsIMMP2L
Huge Navigator IMMP2L [HugePedia]
snp3D : Map Gene to Disease83943
BioCentury BCIQIMMP2L
ClinGenIMMP2L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83943
Chemical/Pharm GKB GenePA134887258
Clinical trialIMMP2L
Miscellaneous
canSAR (ICR)IMMP2L (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIMMP2L
EVEXIMMP2L
GoPubMedIMMP2L
iHOPIMMP2L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:10:47 CET 2017

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