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LDAH (lipid droplet associated hydrolase)

Identity

Alias_namesC2orf43
chromosome 2 open reading frame 43
Alias_symbol (synonym)FLJ21820
Other aliashLDAH
HGNC (Hugo) LDAH
LocusID (NCBI) 60526
Atlas_Id 53125
Location 2p24.1  [Link to chromosome band 2p24]
Location_base_pair Starts at 20684014 and ends at 20823130 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)
LDAH (2p24.1) / RTN4 (2p16.1)MALAT1 (11q13.1) / LDAH (2p24.1)PARP8 (5q11.1) / LDAH (2p24.1)
PKNOX2 (11q24.2) / LDAH (2p24.1)PUM2 (2p24.1) / LDAH (2p24.1)

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)LDAH   26145
Cards
Entrez_Gene (NCBI)LDAH  60526  lipid droplet associated hydrolase
AliasesC2orf43; hLDAH
GeneCards (Weizmann)LDAH
Ensembl hg19 (Hinxton)ENSG00000118961 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118961 [Gene_View]  chr2:20684014-20823130 [Contig_View]  LDAH [Vega]
ICGC DataPortalENSG00000118961
TCGA cBioPortalLDAH
AceView (NCBI)LDAH
Genatlas (Paris)LDAH
WikiGenes60526
SOURCE (Princeton)LDAH
Genetics Home Reference (NIH)LDAH
Genomic and cartography
GoldenPath hg38 (UCSC)LDAH  -     chr2:20684014-20823130 -  2p24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LDAH  -     2p24.1   [Description]    (hg19-Feb_2009)
EnsemblLDAH - 2p24.1 [CytoView hg19]  LDAH - 2p24.1 [CytoView hg38]
Mapping of homologs : NCBILDAH [Mapview hg19]  LDAH [Mapview hg38]
OMIM613570   
Gene and transcription
Genbank (Entrez)AK021672 AK025473 AK299244 AK299555 AK300494
RefSeq transcript (Entrez)NM_001282719 NM_001282720 NM_001282721 NM_001282722 NM_001282723 NM_001282724 NM_021925
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LDAH
Cluster EST : UnigeneHs.187823 [ NCBI ]
CGAP (NCI)Hs.187823
Alternative Splicing GalleryENSG00000118961
Gene ExpressionLDAH [ NCBI-GEO ]   LDAH [ EBI - ARRAY_EXPRESS ]   LDAH [ SEEK ]   LDAH [ MEM ]
Gene Expression Viewer (FireBrowse)LDAH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60526
GTEX Portal (Tissue expression)LDAH
Human Protein AtlasENSG00000118961-LDAH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H6V9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H6V9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H6V9
Splice isoforms : SwissVarQ9H6V9
PhosPhoSitePlusQ9H6V9
Domaine pattern : Prosite (Expaxy)LIPASE_SER (PS00120)   
Domains : Interpro (EBI)AB_hydrolase    LDAH   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)LDAH
DMDM Disease mutations60526
Blocks (Seattle)LDAH
SuperfamilyQ9H6V9
Human Protein Atlas [tissue]ENSG00000118961-LDAH [tissue]
Peptide AtlasQ9H6V9
HPRD07113
IPIIPI00030257   IPI01018725   IPI00894390   IPI00910021   IPI00953370   IPI00658115   IPI00894042   IPI00940583   IPI00893647   
Protein Interaction databases
DIP (DOE-UCLA)Q9H6V9
IntAct (EBI)Q9H6V9
FunCoupENSG00000118961
BioGRIDLDAH
STRING (EMBL)LDAH
ZODIACLDAH
Ontologies - Pathways
QuickGOQ9H6V9
Ontology : AmiGOendoplasmic reticulum  lipid particle  lipid particle  lipid catabolic process  lipase activity  lipid storage  
Ontology : EGO-EBIendoplasmic reticulum  lipid particle  lipid particle  lipid catabolic process  lipase activity  lipid storage  
NDEx NetworkLDAH
Atlas of Cancer Signalling NetworkLDAH
Wikipedia pathwaysLDAH
Orthology - Evolution
OrthoDB60526
GeneTree (enSembl)ENSG00000118961
Phylogenetic Trees/Animal Genes : TreeFamLDAH
HOVERGENQ9H6V9
HOGENOMQ9H6V9
Homologs : HomoloGeneLDAH
Homology/Alignments : Family Browser (UCSC)LDAH
Gene fusions - Rearrangements
Fusion : MitelmanLDAH/RTN4 [2p24.1/2p16.1]  
Fusion : MitelmanPUM2/LDAH [2p24.1/2p24.1]  [t(2;2)(p24;p24)]  
Tumor Fusion PortalLDAH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLDAH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LDAH
dbVarLDAH
ClinVarLDAH
1000_GenomesLDAH 
Exome Variant ServerLDAH
ExAC (Exome Aggregation Consortium)ENSG00000118961
GNOMAD BrowserENSG00000118961
Genetic variants : HAPMAP60526
Genomic Variants (DGV)LDAH [DGVbeta]
DECIPHERLDAH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLDAH 
Mutations
ICGC Data PortalLDAH 
TCGA Data PortalLDAH 
Broad Tumor PortalLDAH
OASIS PortalLDAH [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDLDAH
BioMutasearch LDAH
DgiDB (Drug Gene Interaction Database)LDAH
DoCM (Curated mutations)LDAH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LDAH (select a term)
intoGenLDAH
Cancer3DLDAH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613570   
Orphanet
DisGeNETLDAH
MedgenLDAH
Genetic Testing Registry LDAH
NextProtQ9H6V9 [Medical]
TSGene60526
GENETestsLDAH
Target ValidationLDAH
Huge Navigator LDAH [HugePedia]
snp3D : Map Gene to Disease60526
BioCentury BCIQLDAH
ClinGenLDAH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60526
Chemical/Pharm GKB GenePA147358698
Clinical trialLDAH
Miscellaneous
canSAR (ICR)LDAH (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLDAH
EVEXLDAH
GoPubMedLDAH
iHOPLDAH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:19:38 CET 2017

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