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PM20D2 (peptidase M20 domain containing 2)

Identity

Alias_namesACY1L2
aminoacylase 1-like 2
Alias_symbol (synonym)bA63L7.3
Other alias
HGNC (Hugo) PM20D2
LocusID (NCBI) 135293
Atlas_Id 72010
Location 6q15  [Link to chromosome band 6q15]
Location_base_pair Starts at 89146050 and ends at 89165571 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)

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)PM20D2   21408
Cards
Entrez_Gene (NCBI)PM20D2  135293  peptidase M20 domain containing 2
AliasesACY1L2
GeneCards (Weizmann)PM20D2
Ensembl hg19 (Hinxton)ENSG00000146281 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146281 [Gene_View]  ENSG00000146281 [Sequence]  chr6:89146050-89165571 [Contig_View]  PM20D2 [Vega]
ICGC DataPortalENSG00000146281
TCGA cBioPortalPM20D2
AceView (NCBI)PM20D2
Genatlas (Paris)PM20D2
WikiGenes135293
SOURCE (Princeton)PM20D2
Genetics Home Reference (NIH)PM20D2
Genomic and cartography
GoldenPath hg38 (UCSC)PM20D2  -     chr6:89146050-89165571 +  6q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PM20D2  -     6q15   [Description]    (hg19-Feb_2009)
EnsemblPM20D2 - 6q15 [CytoView hg19]  PM20D2 - 6q15 [CytoView hg38]
Mapping of homologs : NCBIPM20D2 [Mapview hg19]  PM20D2 [Mapview hg38]
OMIM615913   
Gene and transcription
Genbank (Entrez)AA503266 AK094996 AK127529 AK302464 BC035036
RefSeq transcript (Entrez)NM_001010853
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PM20D2
Cluster EST : UnigeneHs.356247 [ NCBI ]
CGAP (NCI)Hs.356247
Alternative Splicing GalleryENSG00000146281
Gene ExpressionPM20D2 [ NCBI-GEO ]   PM20D2 [ EBI - ARRAY_EXPRESS ]   PM20D2 [ SEEK ]   PM20D2 [ MEM ]
Gene Expression Viewer (FireBrowse)PM20D2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)135293
GTEX Portal (Tissue expression)PM20D2
Human Protein AtlasENSG00000146281-PM20D2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IYS1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IYS1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IYS1
Splice isoforms : SwissVarQ8IYS1
PhosPhoSitePlusQ8IYS1
Domains : Interpro (EBI)Pept_M20A_amidohydro_pred    Peptidase_M20    Peptidase_M20_dimer   
Domain families : Pfam (Sanger)M20_dimer (PF07687)    Peptidase_M20 (PF01546)   
Domain families : Pfam (NCBI)pfam07687    pfam01546   
Conserved Domain (NCBI)PM20D2
DMDM Disease mutations135293
Blocks (Seattle)PM20D2
SuperfamilyQ8IYS1
Human Protein Atlas [tissue]ENSG00000146281-PM20D2 [tissue]
Peptide AtlasQ8IYS1
HPRD16473
IPIIPI00217852   
Protein Interaction databases
DIP (DOE-UCLA)Q8IYS1
IntAct (EBI)Q8IYS1
FunCoupENSG00000146281
BioGRIDPM20D2
STRING (EMBL)PM20D2
ZODIACPM20D2
Ontologies - Pathways
QuickGOQ8IYS1
Ontology : AmiGOnucleoplasm  proteolysis  dipeptidase activity  regulation of cellular protein metabolic process  extracellular exosome  
Ontology : EGO-EBInucleoplasm  proteolysis  dipeptidase activity  regulation of cellular protein metabolic process  extracellular exosome  
NDEx NetworkPM20D2
Atlas of Cancer Signalling NetworkPM20D2
Wikipedia pathwaysPM20D2
Orthology - Evolution
OrthoDB135293
GeneTree (enSembl)ENSG00000146281
Phylogenetic Trees/Animal Genes : TreeFamPM20D2
HOVERGENQ8IYS1
HOGENOMQ8IYS1
Homologs : HomoloGenePM20D2
Homology/Alignments : Family Browser (UCSC)PM20D2
Gene fusions - Rearrangements
Fusion : QuiverPM20D2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPM20D2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PM20D2
dbVarPM20D2
ClinVarPM20D2
1000_GenomesPM20D2 
Exome Variant ServerPM20D2
ExAC (Exome Aggregation Consortium)ENSG00000146281
GNOMAD BrowserENSG00000146281
Varsome BrowserPM20D2
Genetic variants : HAPMAP135293
Genomic Variants (DGV)PM20D2 [DGVbeta]
DECIPHERPM20D2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPM20D2 
Mutations
ICGC Data PortalPM20D2 
TCGA Data PortalPM20D2 
Broad Tumor PortalPM20D2
OASIS PortalPM20D2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPM20D2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPM20D2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PM20D2
DgiDB (Drug Gene Interaction Database)PM20D2
DoCM (Curated mutations)PM20D2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PM20D2 (select a term)
intoGenPM20D2
Cancer3DPM20D2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615913   
Orphanet
DisGeNETPM20D2
MedgenPM20D2
Genetic Testing Registry PM20D2
NextProtQ8IYS1 [Medical]
TSGene135293
GENETestsPM20D2
Target ValidationPM20D2
Huge Navigator PM20D2 [HugePedia]
snp3D : Map Gene to Disease135293
BioCentury BCIQPM20D2
ClinGenPM20D2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD135293
Chemical/Pharm GKB GenePA162399803
Clinical trialPM20D2
Miscellaneous
canSAR (ICR)PM20D2 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePM20D2
EVEXPM20D2
GoPubMedPM20D2
iHOPPM20D2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Jul 30 14:24:21 CEST 2018

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