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LTBP4 (latent transforming growth factor beta binding protein 4)

Identity

Other namesARCL1C
LTBP-4
LTBP4L
LTBP4S
HGNC (Hugo) LTBP4
LocusID (NCBI) 8425
Atlas_Id 41215
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 41103141 and ends at 41135725 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ERBB2 (17q12) / LTBP4 (19q13.2)LTBP4 (19q13.2) / CTSD (11p15.5)LTBP4 (19q13.2) / LTBP4 (19q13.2)
LTBP4 (19q13.2) / MYO1B (2q32.3)LTBP4 (19q13.2) / STAB1 (3p21.1)LTBP4 19q13.2 / MYO1B 2q32.3

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)LTBP4   6717
Cards
Entrez_Gene (NCBI)LTBP4  8425  latent transforming growth factor beta binding protein 4
AliasesARCL1C; LTBP-4; LTBP4L; LTBP4S
GeneCards (Weizmann)LTBP4
Ensembl hg19 (Hinxton)ENSG00000090006 [Gene_View]  chr19:41103141-41135725 [Contig_View]  LTBP4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000090006 [Gene_View]  chr19:41103141-41135725 [Contig_View]  LTBP4 [Vega]
ICGC DataPortalENSG00000090006
TCGA cBioPortalLTBP4
AceView (NCBI)LTBP4
Genatlas (Paris)LTBP4
WikiGenes8425
SOURCE (Princeton)LTBP4
Genomic and cartography
GoldenPath hg19 (UCSC)LTBP4  -     chr19:41103141-41135725 +  19q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LTBP4  -     19q13.2   [Description]    (hg38-Dec_2013)
EnsemblLTBP4 - 19q13.2 [CytoView hg19]  LTBP4 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBILTBP4 [Mapview hg19]  LTBP4 [Mapview hg38]
OMIM604710   613177   
Gene and transcription
Genbank (Entrez)AF051344 AF051345 AF054501 AF054502 AK074499
RefSeq transcript (Entrez)NM_001042544 NM_001042545 NM_003573
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_021201 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)LTBP4
Cluster EST : UnigeneHs.466766 [ NCBI ]
CGAP (NCI)Hs.466766
Alternative Splicing GalleryENSG00000090006
Gene ExpressionLTBP4 [ NCBI-GEO ]   LTBP4 [ EBI - ARRAY_EXPRESS ]   LTBP4 [ SEEK ]   LTBP4 [ MEM ]
Gene Expression Viewer (FireBrowse)LTBP4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8425
GTEX Portal (Tissue expression)LTBP4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N2S1 (Uniprot)
NextProtQ8N2S1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N2S1
Splice isoforms : SwissVarQ8N2S1 (Swissvar)
PhosPhoSitePlusQ8N2S1
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    TB (PS51364)   
Domains : Interpro (EBI)EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Growth_fac_rcpt_    TB_dom   
Domain families : Pfam (Sanger)EGF_CA (PF07645)    TB (PF00683)   
Domain families : Pfam (NCBI)pfam07645    pfam00683   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
DMDM Disease mutations8425
Blocks (Seattle)LTBP4
SuperfamilyQ8N2S1
Human Protein AtlasENSG00000090006
Peptide AtlasQ8N2S1
HPRD05274
IPIIPI00873371   IPI00783492   IPI00792792   IPI00395783   IPI00921901   IPI01018340   IPI01014061   IPI00025732   
Protein Interaction databases
DIP (DOE-UCLA)Q8N2S1
IntAct (EBI)Q8N2S1
FunCoupENSG00000090006
BioGRIDLTBP4
STRING (EMBL)LTBP4
ZODIACLTBP4
Ontologies - Pathways
QuickGOQ8N2S1
Ontology : AmiGOregulation of cell growth  transforming growth factor beta-activated receptor activity  integrin binding  calcium ion binding  protein binding  glycosaminoglycan binding  extracellular region  proteinaceous extracellular matrix  extracellular space  protein folding  transmembrane receptor protein serine/threonine kinase signaling pathway  multicellular organism development  regulation of transforming growth factor beta receptor signaling pathway  regulation of proteolysis  growth hormone secretion  extracellular matrix  extracellular matrix  regulation of cell differentiation  transforming growth factor beta binding  transforming growth factor beta binding  extracellular exosome  
Ontology : EGO-EBIregulation of cell growth  transforming growth factor beta-activated receptor activity  integrin binding  calcium ion binding  protein binding  glycosaminoglycan binding  extracellular region  proteinaceous extracellular matrix  extracellular space  protein folding  transmembrane receptor protein serine/threonine kinase signaling pathway  multicellular organism development  regulation of transforming growth factor beta receptor signaling pathway  regulation of proteolysis  growth hormone secretion  extracellular matrix  extracellular matrix  regulation of cell differentiation  transforming growth factor beta binding  transforming growth factor beta binding  extracellular exosome  
NDEx NetworkLTBP4
Atlas of Cancer Signalling NetworkLTBP4
Wikipedia pathwaysLTBP4
Orthology - Evolution
OrthoDB8425
GeneTree (enSembl)ENSG00000090006
Phylogenetic Trees/Animal Genes : TreeFamLTBP4
Homologs : HomoloGeneLTBP4
Homology/Alignments : Family Browser (UCSC)LTBP4
Gene fusions - Rearrangements
Fusion: TCGALTBP4 19q13.2 MYO1B 2q32.3 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerLTBP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LTBP4
dbVarLTBP4
ClinVarLTBP4
1000_GenomesLTBP4 
Exome Variant ServerLTBP4
ExAC (Exome Aggregation Consortium)LTBP4 (select the gene name)
Genetic variants : HAPMAP8425
Genomic Variants (DGV)LTBP4 [DGVbeta]
Mutations
ICGC Data PortalLTBP4 
TCGA Data PortalLTBP4 
Broad Tumor PortalLTBP4
OASIS PortalLTBP4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLTBP4 
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch LTBP4
DgiDB (Drug Gene Interaction Database)LTBP4
DoCM (Curated mutations)LTBP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LTBP4 (select a term)
intoGenLTBP4
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:41103141-41135725  ENSG00000090006
CONAN: Copy Number AnalysisLTBP4 
Mutations and Diseases : HGMDLTBP4
OMIM604710    613177   
MedgenLTBP4
Genetic Testing Registry LTBP4
NextProtQ8N2S1 [Medical]
TSGene8425
GENETestsLTBP4
Huge Navigator LTBP4 [HugePedia]
snp3D : Map Gene to Disease8425
BioCentury BCIQLTBP4
ClinGenLTBP4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8425
Chemical/Pharm GKB GenePA30480
Clinical trialLTBP4
Miscellaneous
canSAR (ICR)LTBP4 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLTBP4
EVEXLTBP4
GoPubMedLTBP4
iHOPLTBP4
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 19 18:58:58 CEST 2016

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