LTBP3 - latent transforming growth factor beta binding protein 3 Gene

Homo sapiens

Also known as DASS; LTBP2; LTBP-3; STHAG6; pp6425; GPHYSD3

Gene ID: 4054 | Gene type: protein coding

About LTBP3

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,538,559-65,558,359 (from NCBI)

This gene has 23 transcripts (splice variants), 189 orthologues, 3 paralogues and is associated with 7 phenotypes. Ubiquitous expression in ovary (RPKM 27.2), fat (RPKM 25.7) and 25 other tissues.

Summary

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]

LTBP3 Products(3)

mRNA	Protein	Name
NM_001130144.3	NP_001123616.1	latent-transforming growth factor beta-binding protein 3 isoform 1 precursor
NM_001164266.1	NP_001157738.1	latent-transforming growth factor beta-binding protein 3 isoform 3
NM_021070.4	NP_066548.2	latent-transforming growth factor beta-binding protein 3 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27339457	GOA
enables transforming growth factor beta binding	IPI IPI: Inferred from physical interaction	10930463	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of mesenchymal stem cell differentiation	IMP IMP: Inferred from mutant phenotype	18672106	GOA
involved in positive regulation of mesenchymal stem cell proliferation	IMP IMP: Inferred from mutant phenotype	18672106	GOA
involved in transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	18672106	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	16157329	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

latent-transforming growth factor beta-binding protein 3

latent TGF beta binding protein 3

Related Diseases

Diseases

Alias

Dental Anomalies And Short Stature

Brachyolmia-Amelogenesis Imperfecta Syndrome	Platyspondyly With Amelogenesis Imperfecta
DASS	Verloes Bourguignon Syndrome
Verloes-Bourguignon Syndrome	Vbs
Sthag6	Tooth Agenesis, Selective, 6
Tooth Agenesis, Selective, 6, Formerly	Sthag6, Formerly
Selective Tooth Agenesis 5	Amelogenesis Imperfecta And Platyspondyly
Skeletal Dysplasia With Amelogenesis Imperfecta And Platyspondyly	Platyspondyly-Amelogenesis Imperfecta Syndrome

Geleophysic Dysplasia 3

GPHYSD3

Acromicric Dysplasia

ACMICD	Acromicric Skeletal Dysplasia
Dysplasia, Acromicric

Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

Brachyolmia

Brachyrachia

Tracheal Stenosis

Stenosis Of Trachea

Spastic Paraplegia 76, Autosomal Recessive

SPG76	Autosomal Recessive Spastic Paraplegia Type 76
Hereditary Spastic Paraplegia 76	Autosomal Recessive Spastic Paraplegia 76
Paraplegia, Spastic, Autosomal Recessive, Type 76

Primary Congenital Glaucoma

Megalocornea

Isolated Congenital Megalocornea	Congenital Anterior Megalophthalmia
Anterior Megalophthalmos	Mgc1
Mgcn	Congenital Keratoglobus

Hypoplastic Amelogenesis Imperfecta

Amelogenesis Imperfecta Type 1	Amelogenesis Imperfecta, Hypoplastic Type
Amelogenesis Imperfecta Local Hypoplastic Form

Geleophysic Dysplasia 2

GPHYSD2	Geleophysic Dwarfism
Dysplasia, Geleophysic, Type 2	Geleophysic Dysplasia

Cutis Laxa

Generalized Elastolysis	Loose Skin
Dermatolysis	Dermatomegaly
Cutis Laxa Syndrome

Geleophysic Dysplasia 1

GPHYSD1	Geleophysic Dwarfism
Geleophysic Dysplasia

Cutis Laxa, Autosomal Recessive, Type Ic

Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities	ARCL1C
Urban-Rifkin-Davis Syndrome	Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies
URDS	Autosomal Recessive Cutis Laxa Type Ic
Autosomal Recessive Cutis Laxa Type 1c	Cutis Laxa With Severe Pulmonary Gastrointestinal And Urinary Abnormalities

Stiff Skin Syndrome

SSKS	Stiff Skin

Weill-Marchesani Syndrome

Gemss Syndrome	Spherophakia-Brachymorphia Syndrome
Marchesani-Weill Syndrome	Wms
Congenital Mesodermal Dystrophy	Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome	Mesodermal Dysmorphodystrophy Congenital
Wm Syndrome	Brachydactyly-Spherophakia Syndrome
Brachymorphy With Spherophakia Syndrome	Congenital Mesodermal Dysmorphodystrophy
Marchesani Syndrome	Weill-Marchesani Syndrome, Autosomal Recessive
Weill-Marchesani Syndrome, Autosomal Dominant

Hydrophthalmos

Autosomal Recessive Cutis Laxa Type I

Autosomal Recessive Cutis Laxa Type 1	Cutis Laxa, Type 1
Cutis Laxa, Autosomal Recessive, Type I	Cutis Laxa, Autosomal Recessive Type 1
Cutis Laxa, Autosomal Recessive	Arcl1
Autosomal Recessive Cutis Laxa With Severe Systemic Involvement	Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type

Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos

Glaucoma 3, Primary Congenital, A

Buphthalmos	Glaucoma, Congenital
Congenital Glaucoma	Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
GLC3A	Glc3
Buphthalmia	Primary Congenital Glaucoma
Glaucoma, Primary Open Angle, Juvenile-Onset	Simple Buphthalmos
Buphthalmus	Glaucoma, Primary Open Angle, Adult-Onset
Primary Congenital Glaucoma 3a	Primary Infantile Glaucoma Type 3a
Glaucoma 3a, Primary Congenital	Glaucoma, Congenital, Primary, Type 3a
Hydrophthalmos	Cystic Eyeball

Isolated Ectopia Lentis

Familial Ectopia Lentis	Ectopia Lentis
Ectopia Lentis Syndrome	Lens Subluxation
Iel	Congenital Ectopia Lentis
Subluxation Of Lens	Ectopia Lentis, Isolated
Ectopia Lentis Isolated

Peters-Plus Syndrome

Krause-Kivlin Syndrome	Peters Plus Syndrome
Peters Anomaly	Irido-Corneo-Trabecular Dysgenesis
PTRPLS	Peters Anomaly With Short-Limb Dwarfism
Peters Anomaly-Short Limb Dwarfism Syndrome	Peters Anomaly With Short Limb Dwarfism
Peters Congenital Glaucoma	Krause-Van Schooneveld-Kivlin Syndrome
Peters' Plus Syndrome	Peters'-Plus Syndrome
Anomaly Peters

Anodontia

Complete Absence Of Teeth	Developmental Absence Of Tooth
Total Anodontia Of Permanent And Deciduous Teeth	Absence Of Permanent Teeth
Anodontia Of Permanent Dentition	Agomphiasis
Agomphosis	Anodontism
Complete Developmental Absence Of Teeth	Congenital Absence Of Teeth
Congenital Complete Absence Of Teeth	Congenital Edentia
Absence Of Teeth	Absent Teeth
Congenital Partial Absence Of Teeth	Partial Absence Of Teeth
Partial Anodontia

Phacogenic Glaucoma

Axenfeld-Rieger Syndrome

Axenfeld Syndrome	Rieger Syndrome
Rieger Anomaly	Axenfeld Anomaly
Anomaly, Rieger'S	Hagedoom Syndrome
Rgs - Rieger Syndrome	Rieger'S Anomaly
Goniodysgenesis Hypodontia	Iridogoniodysgenesis With Somatic Anomalies
Ars	Axenfeld And Rieger Anomaly
Axra	Axrs
Rieger Eye Malformation Sequence

Lens Subluxation

Subluxation Of Lens

Contractural Arachnodactyly, Congenital

Congenital Contractural Arachnodactyly	Beals Syndrome
CCA	Beals-Hecht Syndrome
Distal Arthrogryposis Type 9	Arthrogryposis, Distal, Type 9
Da9	Arachnodactyly, Contractural Beals Type
Contractures, Multiple With Arachnodactyly	Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis
Arthrogyroposis, Distal, Type 9	Distal Arthrogyropsis Type 9
Cca Syndrome	Arachnodactyly

Iris Disease

Iris Diseases

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E	Primary Open Angle Glaucoma
POAG	Adult-Onset Primary Open Angle Glaucoma
Chronic Simple Glaucoma	GLC1E
Primary Open Angle Glaucoma 1e	Glaucoma, Open Angle, Primary

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome	Lds
Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies	Furlong Syndrome

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm	Annuloaortic Ectasia
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Familial Aortic Dissection
Familial Taad	Familial Thoracic Aortic Aneurysm
Congenital Aneurysm Of Ascending Aorta	Familial Aortic Aneurysm
Familial Thoracic Aortic Aneurysm And Dissection	Aortic Aneurysm, Thoracic
AAT1	Faa1
Aortic Dissection, Familial	Aortic Aneurysm, Familial Thoracic
Aneurysm, Thoracic Aortic	Faa
Ftaad	Taa
Taad	Cystic Medial Necrosis Of Aorta
Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection	Aortic Aneurysm Thoracic
Familial Aortic Aneurysms	Aneurysm, Aortic, Thoracic, Familial, Type 1
Aneurysm Of Thoracic Aorta	Intrathoracic Aneurysm
Thoracic Aorta Aneurysm	Thoracic Aortic Aneurysm Without Rupture
Thoracic Aneurysm	Thorax Arterial Aneurysm
Thoracic Artery Aneurysm	Thoracic Arterial Aneurysm
Thorax Aneurysm	Thorax Aortic Aneurysm
Dissection Of Thoracic Aorta

Orthostatic Intolerance

Mitral Valve Prolapse	Neurocirculatory Asthenia
Mitral Valve Prolapse Syndrome	Irritable Heart
Systolic Click-Murmur Syndrome	Soldiers Heart
Cardiovascular Malfunction Arising From Mental Factors	Cardiovascular Neurosis
Da Costa'S Syndrome	Krishaber'S Disease
Barlow'S Syndrome	Floppy Mitral Valve
Mitral Leaflet Syndrome	Myxomatous Mitral Valve Prolapse
Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency	Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency
Orthostatic Intolerance Due To Net Deficiency	Pots Due To Net Deficiency
OI	Intolerance, Orthostatic
Mitral Valve Prolapse, Familial, X-Linked	Ballooning Mitral Valve
Barlow Syndrome	Flail Mitral Leaflet
Myxomatous Mitral Valve	Mitral Valve Prolapse-Click Syndrome
Prolapsing Mitral Valve Leaflet Syndrome	Billowing Mitral Valve Leaflet
Posterior Mitral Leaflet Deformity	Ballooning Posterior Leaflet Syndrome
Blue Valve Syndrome	Floppy Mitral Valve Syndrome
Mitral Valvular Prolapse	Systolic Click Syndrome

Aniridia 1

Aniridia	Congenital Aniridia
AN1	An
Cataract With Late-Onset Corneal Dystrophy	Aplasia Of Iris
Absent Iris	Irideremia
Aniridia Ii, Formerly	An2, Formerly
An2	Aniridia Type Ii
Aniridia, Type 1	An-1
Absence Of Iris	Agenesis Of Iris
Congenital Absence Of Iris	Hereditary Aniridia
Sporadic Aniridia

Nanophthalmos

Nanophthalmia

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07879	LTBP3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	LTBP3	VGNC	VGNC:74458
Canis familiaris	LTBP3	VGNC	VGNC:42858
Bos taurus	LTBP3	VGNC	VGNC:31073
Felis catus	LTBP3	VGNC	VGNC:103110
Mus musculus	LTBP3	MGD	MGI:1101355
Rattus norvegicus	LTBP3	RGD	RGD:62057