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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LTBP3 Gene

protein-coding GIFtS: 57
GCID: GC11M065306

latent transforming growth factor beta binding protein 3

(Previous symbol: LTBP2)

Explore 23 diseases affiliated with
LTBP3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Latent Transforming Growth Factor Beta Binding Protein 3¹ ²		Latent TGF Beta Binding Protein 3²
LTBP2¹ ² ⁵		Latent-Transforming Growth Factor Beta-Binding Protein 3²
LTBP-3² ³		Pp6425¹
STHAG6² ⁵

External Ids:	HGNC: 6716¹	Entrez Gene: 4054²	Ensembl: ENSG00000168056⁷	OMIM: 602090⁵	UniProtKB: Q9NS15³

Export aliases for LTBP3 gene to outside databases

Previous GC identifers: GC11M067821 GC11M066987 GC11M065556 GC11M065081 GC11M065063 GC11M061633

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LTBP3:

The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be

involved in their subcellular localization. Activation of this complex requires removal of the encoded binding

protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding

different isoforms have been found for this gene.(provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: LTBP3_HUMAN, Q9NS15

Function: May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or

activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in

the extra cellular matrix (ECM)

Gene Wiki entry for LTBP3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LTBP3 gene promoter:
Spz1 NRSF form 1 FOXO3 Nkx2-5 NRSF form 2 C/EBPalpha GATA-2 E2F-1 E2F FOXO3a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LTBP3 promoter sequence

Search SABiosciences Chromatin IP Primers for LTBP3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LTBP3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.1 Ensembl cytogenetic band: 11q13.1 HGNC cytogenetic band: 11q12

LTBP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LTBP3 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M065306: view genomic region (about GC identifiers)

Start:	65,306,030 bp from pter	End:	65,326,401 bp from pter
Size:	20,372 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LTBP3_HUMAN, Q9NS15 (See protein sequence)

Recommended Name: Latent-transforming growth factor beta-binding protein 3 precursor

Size: 1303 amino acids; 139359 Da

Subunit: Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for

activation of complex

Subcellular location: Secreted (By similarity). Note=Secretion occurs after coexpression with TGFB1 and requires

complexing with 'Cys-33' of the TGFB1 propeptide (By similarity)

Sequence caution: Sequence=BAB15767.1; Type=Erroneous initiation;

Secondary accessions: O15107 Q96HB9 Q9H7K2 Q9UFN4

Alternative splicing: 2 isoforms: Q9NS15-1 Q9NS15-2

Explore the universe of human proteins at neXtProt for LTBP3: NX_Q9NS15

Post-translational modifications:

Contains hydroxylated asparagine residues (By similarity)¹

Two intrachain disulfide bonds from the TB3 domain are rearranged upon TGFB1 binding, and form interchain bonds with

TGFB1 propeptide, anchoring it to the extracellular matrix¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NS15

LTBP3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001123616.1 NP_001157738.1 NP_066548.2

ENSEMBL proteins:

ENSP00000326647 ENSP00000301873 ENSP00000434315 ENSP00000434406 ENSP00000435530

ENSP00000432350 ENSP00000431219 ENSP00000436341 ENSP00000436032 ENSP00000435276

ENSP00000432121 ENSP00000435146 ENSP00000432476 ENSP00000441912

Reactome Protein details: Q9NS15
Human Recombinant Protein Products:

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	Novus Biologicals LTBP3 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for LTBP3

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--

LTBP3 for ontologies About GeneDecksing

LTBP3 Antibody Products:

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Assay Products for LTBP3:

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	GenScript Custom Assay Services for LTBP3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for LTBP3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LTBP3 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR017878 TB_dom

IPR000742 EG-like_dom

IPR026823 cEGF

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

IPR018097 EGF_Ca-bd_CS

Graphical View of Domain Structure for InterPro Entry Q9NS15

ProtoNet protein and cluster: Q9NS15

2 Blocks protein families:

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB001881 EGF-like calcium-binding

UniProtKB/Swiss-Prot: LTBP3_HUMAN, Q9NS15

Similarity: Belongs to the LTBP family

Similarity: Contains 13 EGF-like domains

Similarity: Contains 4 TB (TGF-beta binding) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: LTBP3_HUMAN, Q9NS15

Function: May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or

activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in

the extra cellular matrix (ECM)

Genatlas biochemistry entry for LTBP3:

latent transforming growth factor beta,binding protein 3,involved in the formation of extracellular matrix,with

homology to LTBP1 and fibrillin,including two isoforms,one of them binding to the 100kDa latent TGFB1 complex

miRNA Products:		OriGene 3'-UTR Clone (see all 3): LTBP3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LTBP3
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate LTBP3 (see all 10):
		hsa-let-7a-2* hsa-miR-138-2* hsa-miR-3171 hsa-miR-583 hsa-miR-374a* hsa-miR-493* hsa-let-7g* hsa-miR-29a*

		SwitchGear 3'UTR luciferase reporter plasmid: LTBP3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LTBP3 (see all 4) OriGene shRNA RFP: LTBP3 OriGene siRNA: LTBP3
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for LTBP3

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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LTBP3 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LTBP3 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): LTBP3 (NM_001130144)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for LTBP3
		Search LifeMap BioReagents cell lines for LTBP3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LTBP3

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--
GO:0019838	growth factor binding	IEA	--

LTBP3 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for LTBP3:

Elongated cells

Animal Models:
Mouse knock-out Ltbp3^tm1Bdvc for LTBP3
6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ltbp3):

behavior/neurological	craniofacial	growth/size	immune system	skeleton
vision/eye

LTBP3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptotic Pathways in Synovial Fibroblasts

8/14 pathways (see all 14)
Apoptotic Pathways in Synovial Fibroblasts	1.00	ERK5 Signaling	0.61
p53 Mediated Apoptosis	0.84	eIF2 Pathway	0.60
Mitochondrial Apoptosis	0.73	Rac1 Pathway	0.58
Telomerase Components in Cell Signaling	0.72	Nuclear Receptor Activation by Vitamin-A	0.57

GPCR Pathway

GPCR Pathway	1.00	Estrogen Pathway	0.55
Ras Pathway	0.62	Pancreatic Adenocarcinoma	0.55
Breast Cancer Regulation by Stathmin1	0.58	Paxillin Interactions	0.53
NFAT in Immune Response	0.58

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

TGF-Beta Pathway

	TGF-Beta Pathway	1.00			JAK-STAT Pathway	0.57
	MAPK Family Pathway	0.60			JNK Pathway	0.50

Nanog in Mammalian ESC Pluripotency

	Nanog in Mammalian ESC Pluripotency	1.00			14-3-3 Induced Intracellular Signaling	0.59
	GSK3 Signaling	0.61			eNOS Signaling	0.48

Pathway sources
See GeneCards unified pathways
Show all pathways

5/54 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LTBP3 (see all 54)

	Nuclear Receptor Activation by Vitamin-A
	Paxillin Interactions
	Telomerase Components in Cell Signaling
	Mitochondrial Apoptosis
	Molecular Mechanisms of Cancer

3 Reactome Pathways for LTBP3

	Molecules associated with elastic fibres
	Extracellular matrix organization
	Elastic fibre formation

LTBP3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LTBP3

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

5/14 Interacting proteins for LTBP3 (Q9NS15^{2, 3} ENSP00000301873⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRPF40A	O75400²^,³	MINT-61880 I2D: score=3
ITGB5	P18084³, ENSP00000296181⁴	I2D: score=1 STRING: ENSP00000296181
TGFB1	P01137³, ENSP00000221930⁴	I2D: score=1 STRING: ENSP00000221930
HBEGF	Q99075³, ENSP00000230990⁴	I2D: score=1 STRING: ENSP00000230990
TGFB2	P61812³, ENSP00000355896⁴	I2D: score=1 STRING: ENSP00000355896

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	--	--
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	--
GO:0030502	negative regulation of bone mineralization	IEA	--
GO:0032331	negative regulation of chondrocyte differentiation	IEA	--
GO:0045780	positive regulation of bone resorption	IEA	--

LTBP3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LTBP3
Search CenterWatch for drugs/clinical trials and news about LTBP3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LTBP3 gene (3 alternative transcripts):

NM_001130144.2 NM_001164266.1 NM_021070.4

Unigene Cluster for LTBP3:

Latent transforming growth factor beta binding protein 3

Hs.289019 [show with all ESTs]

Unigene Representative Sequence: NM_001130144

18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):

ENST00000322147 ENST00000529582 ENST00000301873(uc001oej.3 uc010roi.2 uc001oei.3 uc010roj.2)

ENST00000530785(uc001oef.3) ENST00000529189(uc001oeg.3) ENST00000532932(uc001oeh.3)

ENST00000528516 ENST00000526927 ENST00000532661 ENST00000529371 ENST00000530866(uc010rok.1)

ENST00000526124 ENST00000530990 ENST00000525443 ENST00000527339 ENST00000528966

ENST00000529764 ENST00000527792

miRNA Products:		OriGene 3'-UTR Clone (see all 3): LTBP3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LTBP3
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate LTBP3 (see all 10):
		hsa-let-7a-2* hsa-miR-138-2* hsa-miR-3171 hsa-miR-583 hsa-miR-374a* hsa-miR-493* hsa-let-7g* hsa-miR-29a*

		SwitchGear 3'UTR luciferase reporter plasmid: LTBP3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LTBP3 (see all 4) OriGene shRNA RFP: LTBP3 OriGene siRNA: LTBP3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LTBP3

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LTBP3 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LTBP3 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): LTBP3 (NM_001130144)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LTBP3

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LTBP3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LTBP3

Additional cDNA sequence:

AF011407.1 AF135960.3 AF135961.2 AF318354.1 AK024477.1 AK097212.1 AK127484.1 AK298858.1

AK299351.1 AK309230.1 AL117551.1 BC008761.2 BC136277.1

24 DOTS entries:

DT.95207538 DT.100769728 DT.119163 DT.97769026 DT.100045000 DT.40132208 DT.75145151 DT.100045008

DT.95375711 DT.100827672 DT.100827673 DT.70103655 DT.100827674 DT.120708867 DT.120708917 DT.91768211

DT.91788265 DT.97823087 DT.100045005 DT.100045007 DT.91768215 DT.91768224 DT.86846584 DT.92414950

24/381 AceView cDNA sequences (see all 381):

AF135961 AI280339 BM713301 F26986 BQ447942 BQ183824 BU634373 AI798566

AI800835 BF968664 BP367286 BG820565 AI983710 BQ447531 BM680633 BQ218979

BG696290 NM_021070 AK024477 BM992207 BQ690603 AI244082 AA704013 BM686467

GeneLoc Exon Structure

5/21 Alternative Splicing Database (ASD) splice patterns (SP) for LTBP3 (see all 21) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4	^	5a	·	5b	·	5c	^	6	^	7	^	8	^	9a	·	9b	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15a	·	15b	^	16	^	17a	·	17b	^	18	^
SP1:																																									-
SP2:
SP3:
SP4:
SP5:

ExUns:	19a	·	19b	·	19c	^	20	^	21a	·	21b	^	22a	·	22b	^	23a	·	23b	·	23c	^	24a	·	24b	^	25a	·	25b	^	26a	·	26b	^	27a	·	27b	^	28	^	29	^	30	^	31	^	32a	·	32b	^	33a	·
SP1:	-		-				-										-														-				-				-
SP2:							-										-														-				-				-
SP3:																	-														-				-
SP4:																															-				-
SP5:

ECgene alternative splicing isoforms for LTBP3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LTBP3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCGCTGGCC

About this image

LTBP3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/20 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 20)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Head Mesenchyme

Branchial Arch 1

Paraxial Mesoderm Cells

Bone, Skeletal Muscle

Heart

Atrioventricular Node

Atrioventricular Node Cells

Myocardium

Lung

Endochondral Facial Bones

Bone

Bone

Bone

Brain

Brain

Brain

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

See LTBP3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LTBP3

SOURCE GeneReport for Unigene cluster: Hs.289019

UniProtKB/Swiss-Prot: LTBP3_HUMAN, Q9NS15

Tissue specificity: Isoform 2 is expressed prominently in heart, skeletal muscle, prostate, testis, small intestine and

ovary. Isoform 1 is strongly expressed in pancreas and liver

SABiosciences Expression via Pathway-Focused PCR Array including LTBP3:

Stem Cell Signaling in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LTBP3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for LTBP3 gene from 4/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	LTBP3⁶	--	52(a)	1 ↔ 1	GL344552.1(35476-52718)
zebrafish (Danio rerio)	Actinopterygii	ltbp3¹	latent transforming growth factor beta binding protein more	57.42(n) 54.68(a)		562912 XM_686282.5 XP_691374.5
fruit fly (Drosophila melanogaster)	Insecta	frac⁶	faulty attraction	10(a)	1 → many	3L(7555710-7562599)
worm (Caenorhabditis elegans)	Secernentea	mup-4⁶ mua-3⁶	Transmembrane cell adhesion receptor mua-3	7(a) 3(a)	possible ortholog possible ortholog	III(7479616-7489010) III(10160599-10183440)

ENSEMBL Gene Tree for LTBP3 (if available)
TreeFam Gene Tree for LTBP3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for LTBP3 gene

FBN1² SCUBE3² FBN3² FBLN5² FBN2² LTBP4² EFEMP1² SCUBE1²

EFEMP2² LTBP2² LTBP1² FBLN2² FBLN1² SCUBE2²

14 SIMAP similar genes for LTBP3 using alignment to 14 protein entries: LTBP3_HUMAN (see all proteins):

pp6425 EFEMP1 LDLR FBLN2 FBN3 NELL2

NPNT PROS1 LTBP1 HMCN1 FBLN5 UMOD

SCUBE2 DKFZp667O055

LTBP3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11548537^1,2	C,F,H	--	61632766(-)	`TCACCC/TCAAGA`	3	--	ds500¹		9		NS EA NA	1188
rs200041750^1,2	C	--	61632972(-)	`CCATCC/TCCCGC`	3	--	ds500¹		0	--	--	--	--
rs15961^1,2	C,H	--	61633136(-)	`GATGGC/ACTGGC`	3	--	ut3¹		9		MN NS NA	672
rs4930294^1,2	C,A,H	--	61633326(+)	`AGTTTC/GTAGGA`	3	--	ut3¹ ese³		4		NS EA	412
rs11545201^1,2	C,F,	--	61633364(+)	`CGCCCG/ACCGGA`	3	--	ut3¹ ese³		3		WA CSA	122
rs11545202^1,2	C,F,H	--	61633488(+)	`GGGCAG/AAAGTG`	3	--	ut3¹ ese³		9		NS EA NA	1230
rs11227217^1,2	F,	--	61634410(+)	`CCGCCC/TGCCTC`	3	--	int¹		3		WA NA EA	358
rs78659669^1,2		--	61636073(+)	`GTGGGA/GCCAGG`	3	--	int¹		0	--	--	--	--
rs73499027^1,2	C,	--	61636737(+)	`TTCACC/TTCCCC`	3	--	int¹		2		WA	120
rs2507829^1,2	H	--	61636786(+)	`CAGGAC/GCCTGA`	3	--	int¹		4		NS EA	412

HapMap Linkage Disequilibrium report for LTBP3 (65306030 - 65326401 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for LTBP3: --
Human Gene Mutation Database (HGMD): LTBP3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LTBP3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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LTBP3 for disorders           About GeneDecksing

OMIM gene information: 602090
OMIM disorders: 613097
UniProtKB/Swiss-Prot: LTBP3_HUMAN, Q9NS15

Defects in LTBP3 are the cause of tooth agenesis selective type 6 (STHAG6) [MIM:613097]. A form of selective

tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth

agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as

agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both

cases does not include absence of third molars (wisdom teeth). Some individuals affected by tooth agenesis selective

type 6 have short stature

20/23 diseases for LTBP3 (see all 23): About MalaCards

tooth agenesis, selective, 6 weill-marchesani syndrome tooth agenesis abdominal aortic aneurysm

aortic aneurysm short stature fatty liver disease oligodontia

hypodontia osteosclerosis macular degeneration liver disease

hepatitis c osteosarcoma glaucoma ataxia

hepatitis fibrosis prostatitis liver fibrosis

2 diseases from the University of Copenhagen DISEASES database for LTBP3:

Weill-Marchesani syndrome Glaucoma

1 Novoseek disease relationship for LTBP3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
osteosarcoma	48.1	1	19681046 (1)

Human Genome Epidemiology (HuGE) Navigator: LTBP3 (10 documents)

Export disorders for LTBP3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for LTBP3 gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with LTBP3)

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Secretion of human latent TGF-beta-binding protein-3 (LTBP-3) is dependent on co-expression of TGF-beta. (PubMed id 12154076)^{1, 2, 9} Penttinen C....Keski-Oja J. (2002)
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. (PubMed id 19344874)^{1, 2, 9} Noor A....Vincent J.B. (2009)
Analysis of the expression pattern of the latent transforming growth factor beta binding protein isoforms in normal and diseased human liver reveals a new splice variant missing the proteinase-sensitive hinge region. (PubMed id 9620332)^{1, 2, 9} Michel K.... Gressner A.M. (1998)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. (PubMed id 10930463)^{1, 2} Saharinen J. and Keski-Oja J. (2000)
The latent transforming growth factor beta binding protein (LTBP) family. (PubMed id 11104663)^{1, 2} Oklu R. and Hesketh R. (2000)
Latent transforming growth factor-beta binding proteins (LTBPs) -- structural extracellular matrix proteins for targeting TGF-beta action. (PubMed id 10743502)^{1, 2} Saharinen J.... Keski-Oja J. (1999)
Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2). (PubMed id 7719025)^{1, 3} Li X....Francke U. (1995)
Induction of human LTBP-3 promoter activity by TGF-beta1 is mediated by Smad3/4 and AP-1 binding elements. (PubMed id 16223572)^{1, 9} Kantola A.K....Koli K. (2005)
Latent TGF-beta binding proteins (LTBPs)-1 and -3 coordinate proliferation and osteogenic differentiation of human mesenchymal stem cells. (PubMed id 18672106)^{1, 9} Koli K....Keski-Oja J. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4054	HGNC: 6716	AceView: LTBP3	Ensembl:ENSG00000168056	euGenes: HUgn4054
ECgene: LTBP3	H-InvDB: LTBP3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for LTBP3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for LTBP3	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for LTBP3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for LTBP3 gene:
Search GeneIP for patents involving LTBP3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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LTBP3 Gene

latent transforming growth factor beta binding protein 3

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LTBP3 Gene

latent transforming growth factor beta binding protein 3

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