LTBP3 (latent transforming growth factor beta binding protein 3)

1. Identity

Alias_names
General Information
Other aliasDASS
GPHYSD3
LTBP-3
STHAG6
pp6425
HGNC (Hugo) LTBP3
LocusID (NCBI) 4054
Atlas_Id 41214
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 65538559 and ends at 65558228 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)
FUS (16p11.2) / LTBP3 (11q13.1)LTBP3 (11q13.1) / ARPC2 (2q35)LTBP3 (11q13.1) / CERS3 (15q26.3)
LTBP3 (11q13.1) / CYHR1 (8q24.3)LTBP3 (11q13.1) / LTBP3 (11q13.1)LTBP3 (11q13.1) / RAP1GAP2 (17p13.3)
LTBP3 11q13.1 / CERS3 15q26.3

2. DNA/RNA

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(11;15)(q13;q26) LTBP3/CERS3

3. External links

Nomenclature
HGNC (Hugo)LTBP3   6716
Cards
Entrez_Gene (NCBI)LTBP3  4054  latent transforming growth factor beta binding protein 3
AliasesDASS; GPHYSD3; LTBP-3; LTBP2; 
STHAG6; pp6425
GeneCards (Weizmann)LTBP3
Ensembl hg19 (Hinxton)ENSG00000168056 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168056 [Gene_View] &nbspENSG00000168056 [Sequence]  chr11:65538559-65558228 [Contig_View]  LTBP3 [Vega]
ICGC DataPortalENSG00000168056
TCGA cBioPortalLTBP3
AceView (NCBI)LTBP3
Genatlas (Paris)LTBP3
WikiGenes4054
SOURCE (Princeton)LTBP3
Genetics Home Reference (NIH)LTBP3
Genomic and cartography
GoldenPath hg38 (UCSC)LTBP3  -     chr11:65538559-65558228 -  11q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LTBP3  -     11q13.1   [Description]    (hg19-Feb_2009)
EnsemblLTBP3 - 11q13.1 [CytoView hg19]  LTBP3 - 11q13.1 [CytoView hg38]
Mapping of homologs : NCBILTBP3 [Mapview hg19]  LTBP3 [Mapview hg38]
OMIM601216   602090   617809   
Gene and transcription
Genbank (Entrez)AF011407 AF135960 AF135961 AF318354 AK024477
RefSeq transcript (Entrez)NM_001130144 NM_001164266 NM_021070
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LTBP3
Cluster EST : UnigeneHs.289019 [ NCBI ]
CGAP (NCI)Hs.289019
Alternative Splicing GalleryENSG00000168056
Gene ExpressionLTBP3 [ NCBI-GEO ]   LTBP3 [ EBI - ARRAY_EXPRESS ]   LTBP3 [ SEEK ]   LTBP3 [ MEM ]
Gene Expression Viewer (FireBrowse)LTBP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)4054
GTEX Portal (Tissue expression)LTBP3
Human Protein AtlasENSG00000168056-LTBP3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NS15   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NS15  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NS15
Splice isoforms : SwissVarQ9NS15
PhosPhoSitePlusQ9NS15
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    TB (PS51364)   
Domains : Interpro (EBI)cEGF    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Growth_fac_rcpt_cys_sf    TB_dom    TB_dom_sf   
Domain families : Pfam (Sanger)cEGF (PF12662)    EGF_CA (PF07645)    hEGF (PF12661)    TB (PF00683)   
Domain families : Pfam (NCBI)pfam12662    pfam07645    pfam12661    pfam00683   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)LTBP3
DMDM Disease mutations4054
Blocks (Seattle)LTBP3
SuperfamilyQ9NS15
Human Protein Atlas [tissue]ENSG00000168056-LTBP3 [tissue]
Peptide AtlasQ9NS15
HPRD03649
IPIIPI00073196   IPI00398794   IPI00943742   IPI00978693   IPI00981639   IPI00978236   IPI00982687   IPI00981389   IPI00981971   IPI00980066   IPI00979317   IPI00980944   IPI00980895   
Protein Interaction databases
DIP (DOE-UCLA)Q9NS15
IntAct (EBI)Q9NS15
FunCoupENSG00000168056
BioGRIDLTBP3
STRING (EMBL)LTBP3
ZODIACLTBP3
Ontologies - Pathways
QuickGOQ9NS15
Ontology : AmiGOcalcium ion binding  extracellular region  extracellular region  transforming growth factor beta activation  transforming growth factor beta binding  collagen-containing extracellular matrix  extracellular exosome  positive regulation of mesenchymal stem cell proliferation  positive regulation of mesenchymal stem cell differentiation  
Ontology : EGO-EBIcalcium ion binding  extracellular region  extracellular region  transforming growth factor beta activation  transforming growth factor beta binding  collagen-containing extracellular matrix  extracellular exosome  positive regulation of mesenchymal stem cell proliferation  positive regulation of mesenchymal stem cell differentiation  
NDEx NetworkLTBP3
Atlas of Cancer Signalling NetworkLTBP3
Wikipedia pathwaysLTBP3
Orthology - Evolution
OrthoDB4054
GeneTree (enSembl)ENSG00000168056
Phylogenetic Trees/Animal Genes : TreeFamLTBP3
HOGENOMQ9NS15
Homologs : HomoloGeneLTBP3
Homology/Alignments : Family Browser (UCSC)LTBP3
Gene fusions - Rearrangements
Fusion : MitelmanLTBP3/CERS3 [11q13.1/15q26.3] &nbsp
Fusion PortalLTBP3 11q13.1 CERS3 15q26.3 HNSC
Fusion : QuiverLTBP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLTBP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LTBP3
dbVarLTBP3
ClinVarLTBP3
1000_GenomesLTBP3 
Exome Variant ServerLTBP3
ExAC (Exome Aggregation Consortium)ENSG00000168056
GNOMAD BrowserENSG00000168056
Varsome BrowserLTBP3
Genetic variants : HAPMAP4054
Genomic Variants (DGV)LTBP3 [DGVbeta]
DECIPHERLTBP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLTBP3 
Mutations
ICGC Data PortalLTBP3 
TCGA Data PortalLTBP3 
Broad Tumor PortalLTBP3
OASIS PortalLTBP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLTBP3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLTBP3
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 LTBP3
DgiDB (Drug Gene Interaction Database)LTBP3
DoCM (Curated mutations)LTBP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LTBP3 (select a term)
intoGenLTBP3
Cancer3DLTBP3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601216    602090    617809   
Orphanet1289    2401    2625   
DisGeNETLTBP3
MedgenLTBP3
Genetic Testing Registry LTBP3
NextProtQ9NS15 [Medical]
TSGene4054
GENETestsLTBP3
Target ValidationLTBP3
Huge Navigator LTBP3 [HugePedia]
snp3D : Map Gene to Disease4054
BioCentury BCIQLTBP3
ClinGenLTBP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4054
Chemical/Pharm GKB GenePA30479
Clinical trialLTBP3
Miscellaneous
canSAR (ICR)LTBP3 (select the gene name)
DataMed IndexLTBP3
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLTBP3
EVEXLTBP3
GoPubMedLTBP3
iHOPLTBP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 17 18:21:39 CET 2019

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