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ABHD12B (abhydrolase domain containing 12B)

Identity

Alias_namesC14orf29
chromosome 14 open reading frame 29
Alias_symbol (synonym)BEM46L3
Other aliasc14_5314
HGNC (Hugo) ABHD12B
LocusID (NCBI) 145447
Atlas_Id 60050
Location 14q22.1  [Link to chromosome band 14q22]
Location_base_pair Starts at 50872160 and ends at 50904970 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ABHD12B (14q22.1) / KIFC1 (6p21.32)NIN (14q22.1) / ABHD12B (14q22.1)

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)ABHD12B   19837
Cards
Entrez_Gene (NCBI)ABHD12B  145447  abhydrolase domain containing 12B
AliasesBEM46L3; C14orf29; c14_5314
GeneCards (Weizmann)ABHD12B
Ensembl hg19 (Hinxton)ENSG00000131969 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131969 [Gene_View]  chr14:50872160-50904970 [Contig_View]  ABHD12B [Vega]
ICGC DataPortalENSG00000131969
TCGA cBioPortalABHD12B
AceView (NCBI)ABHD12B
Genatlas (Paris)ABHD12B
WikiGenes145447
SOURCE (Princeton)ABHD12B
Genetics Home Reference (NIH)ABHD12B
Genomic and cartography
GoldenPath hg38 (UCSC)ABHD12B  -     chr14:50872160-50904970 +  14q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABHD12B  -     14q22.1   [Description]    (hg19-Feb_2009)
EnsemblABHD12B - 14q22.1 [CytoView hg19]  ABHD12B - 14q22.1 [CytoView hg38]
Mapping of homologs : NCBIABHD12B [Mapview hg19]  ABHD12B [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK128464 AY311396 AY311397 AY311398 AY311399
RefSeq transcript (Entrez)NM_001206673 NM_181533 NM_181814
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABHD12B
Cluster EST : UnigeneHs.271896 [ NCBI ]
CGAP (NCI)Hs.271896
Alternative Splicing GalleryENSG00000131969
Gene ExpressionABHD12B [ NCBI-GEO ]   ABHD12B [ EBI - ARRAY_EXPRESS ]   ABHD12B [ SEEK ]   ABHD12B [ MEM ]
Gene Expression Viewer (FireBrowse)ABHD12B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)145447
GTEX Portal (Tissue expression)ABHD12B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z5M8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z5M8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z5M8
Splice isoforms : SwissVarQ7Z5M8
Catalytic activity : Enzyme3.-.-.- [ Enzyme-Expasy ]   3.-.-.-3.-.-.- [ IntEnz-EBI ]   3.-.-.- [ BRENDA ]   3.-.-.- [ KEGG ]   
PhosPhoSitePlusQ7Z5M8
Domains : Interpro (EBI)AB_hydrolase    Hydrolase_4   
Domain families : Pfam (Sanger)Hydrolase_4 (PF12146)   
Domain families : Pfam (NCBI)pfam12146   
Conserved Domain (NCBI)ABHD12B
DMDM Disease mutations145447
Blocks (Seattle)ABHD12B
SuperfamilyQ7Z5M8
Human Protein AtlasENSG00000131969
Peptide AtlasQ7Z5M8
IPIIPI00385288   IPI00375617   IPI00419019   IPI00419020   IPI00419018   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z5M8
IntAct (EBI)Q7Z5M8
FunCoupENSG00000131969
BioGRIDABHD12B
STRING (EMBL)ABHD12B
ZODIACABHD12B
Ontologies - Pathways
QuickGOQ7Z5M8
Ontology : AmiGOhydrolase activity  
Ontology : EGO-EBIhydrolase activity  
NDEx NetworkABHD12B
Atlas of Cancer Signalling NetworkABHD12B
Wikipedia pathwaysABHD12B
Orthology - Evolution
OrthoDB145447
GeneTree (enSembl)ENSG00000131969
Phylogenetic Trees/Animal Genes : TreeFamABHD12B
HOVERGENQ7Z5M8
HOGENOMQ7Z5M8
Homologs : HomoloGeneABHD12B
Homology/Alignments : Family Browser (UCSC)ABHD12B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABHD12B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABHD12B
dbVarABHD12B
ClinVarABHD12B
1000_GenomesABHD12B 
Exome Variant ServerABHD12B
ExAC (Exome Aggregation Consortium)ABHD12B (select the gene name)
Genetic variants : HAPMAP145447
Genomic Variants (DGV)ABHD12B [DGVbeta]
DECIPHERABHD12B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABHD12B 
Mutations
ICGC Data PortalABHD12B 
TCGA Data PortalABHD12B 
Broad Tumor PortalABHD12B
OASIS PortalABHD12B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABHD12B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABHD12B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ABHD12B
DgiDB (Drug Gene Interaction Database)ABHD12B
DoCM (Curated mutations)ABHD12B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABHD12B (select a term)
intoGenABHD12B
Cancer3DABHD12B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenABHD12B
Genetic Testing Registry ABHD12B
NextProtQ7Z5M8 [Medical]
TSGene145447
GENETestsABHD12B
Huge Navigator ABHD12B [HugePedia]
snp3D : Map Gene to Disease145447
BioCentury BCIQABHD12B
ClinGenABHD12B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD145447
Chemical/Pharm GKB GenePA162375213
Clinical trialABHD12B
Miscellaneous
canSAR (ICR)ABHD12B (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABHD12B
EVEXABHD12B
GoPubMedABHD12B
iHOPABHD12B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 10:58:58 CEST 2017

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