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ABHD2 (abhydrolase domain containing 2)

Identity

Alias_symbol (synonym)LABH2
Other aliasHS1-2
PHPS1-2
HGNC (Hugo) ABHD2
LocusID (NCBI) 11057
Atlas_Id 60059
Location 15q26.1  [Link to chromosome band 15q26]
Location_base_pair Starts at 89088150 and ends at 89202360 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ABHD2 (15q26.1) / ABHD2 (15q26.1)ABHD2 (15q26.1) / ACAN (15q26.1)ABHD2 (15q26.1) / BIRC6 (2p22.3)
ABHD2 (15q26.1) / NFX1 (9p13.3)CLCNKB (1p36.13) / ABHD2 (15q26.1)KIF16B (20p12.1) / ABHD2 (15q26.1)
LYZ (12q15) / ABHD2 (15q26.1)MTA1 (14q32.33) / ABHD2 (15q26.1)

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)ABHD2   18717
Cards
Entrez_Gene (NCBI)ABHD2  11057  abhydrolase domain containing 2
AliasesHS1-2; LABH2; PHPS1-2
GeneCards (Weizmann)ABHD2
Ensembl hg19 (Hinxton)ENSG00000140526 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000140526 [Gene_View]  chr15:89088150-89202360 [Contig_View]  ABHD2 [Vega]
ICGC DataPortalENSG00000140526
TCGA cBioPortalABHD2
AceView (NCBI)ABHD2
Genatlas (Paris)ABHD2
WikiGenes11057
SOURCE (Princeton)ABHD2
Genetics Home Reference (NIH)ABHD2
Genomic and cartography
GoldenPath hg38 (UCSC)ABHD2  -     chr15:89088150-89202360 +  15q26.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABHD2  -     15q26.1   [Description]    (hg19-Feb_2009)
EnsemblABHD2 - 15q26.1 [CytoView hg19]  ABHD2 - 15q26.1 [CytoView hg38]
Mapping of homologs : NCBIABHD2 [Mapview hg19]  ABHD2 [Mapview hg38]
OMIM612196   
Gene and transcription
Genbank (Entrez)AF546700 AI916724 AI918734 AK000554 AK095685
RefSeq transcript (Entrez)NM_007011 NM_152924
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABHD2
Cluster EST : UnigeneHs.122337 [ NCBI ]
CGAP (NCI)Hs.122337
Alternative Splicing GalleryENSG00000140526
Gene ExpressionABHD2 [ NCBI-GEO ]   ABHD2 [ EBI - ARRAY_EXPRESS ]   ABHD2 [ SEEK ]   ABHD2 [ MEM ]
Gene Expression Viewer (FireBrowse)ABHD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11057
GTEX Portal (Tissue expression)ABHD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08910   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP08910  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08910
Splice isoforms : SwissVarP08910
PhosPhoSitePlusP08910
Domaine pattern : Prosite (Expaxy)UPF0017 (PS01133)   
Domains : Interpro (EBI)AB_hydrolase    AB_hydrolase_1    AB_hydrolase_4_CS    ABHD4   
Domain families : Pfam (Sanger)Abhydrolase_1 (PF00561)   
Domain families : Pfam (NCBI)pfam00561   
Conserved Domain (NCBI)ABHD2
DMDM Disease mutations11057
Blocks (Seattle)ABHD2
SuperfamilyP08910
Human Protein AtlasENSG00000140526
Peptide AtlasP08910
HPRD09791
IPIIPI00031707   IPI00908425   IPI00929577   
Protein Interaction databases
DIP (DOE-UCLA)P08910
IntAct (EBI)P08910
FunCoupENSG00000140526
BioGRIDABHD2
STRING (EMBL)ABHD2
ZODIACABHD2
Ontologies - Pathways
QuickGOP08910
Ontology : AmiGOacrosomal vesicle  steroid hormone receptor activity  acrosome reaction  response to wounding  integral component of membrane  negative regulation of cell migration  response to progesterone  sperm flagellum  hormone binding  steroid hormone mediated signaling pathway  acylglycerol catabolic process  acylglycerol lipase activity  sperm capacitation  sperm plasma membrane  
Ontology : EGO-EBIacrosomal vesicle  steroid hormone receptor activity  acrosome reaction  response to wounding  integral component of membrane  negative regulation of cell migration  response to progesterone  sperm flagellum  hormone binding  steroid hormone mediated signaling pathway  acylglycerol catabolic process  acylglycerol lipase activity  sperm capacitation  sperm plasma membrane  
NDEx NetworkABHD2
Atlas of Cancer Signalling NetworkABHD2
Wikipedia pathwaysABHD2
Orthology - Evolution
OrthoDB11057
GeneTree (enSembl)ENSG00000140526
Phylogenetic Trees/Animal Genes : TreeFamABHD2
HOVERGENP08910
HOGENOMP08910
Homologs : HomoloGeneABHD2
Homology/Alignments : Family Browser (UCSC)ABHD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABHD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABHD2
dbVarABHD2
ClinVarABHD2
1000_GenomesABHD2 
Exome Variant ServerABHD2
ExAC (Exome Aggregation Consortium)ABHD2 (select the gene name)
Genetic variants : HAPMAP11057
Genomic Variants (DGV)ABHD2 [DGVbeta]
DECIPHERABHD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABHD2 
Mutations
ICGC Data PortalABHD2 
TCGA Data PortalABHD2 
Broad Tumor PortalABHD2
OASIS PortalABHD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABHD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABHD2
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
BioMutasearch ABHD2
DgiDB (Drug Gene Interaction Database)ABHD2
DoCM (Curated mutations)ABHD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABHD2 (select a term)
intoGenABHD2
Cancer3DABHD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612196   
Orphanet
MedgenABHD2
Genetic Testing Registry ABHD2
NextProtP08910 [Medical]
TSGene11057
GENETestsABHD2
Target ValidationABHD2
Huge Navigator ABHD2 [HugePedia]
snp3D : Map Gene to Disease11057
BioCentury BCIQABHD2
ClinGenABHD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11057
Chemical/Pharm GKB GenePA38658
Clinical trialABHD2
Miscellaneous
canSAR (ICR)ABHD2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABHD2
EVEXABHD2
GoPubMedABHD2
iHOPABHD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:00:41 CEST 2017

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