LTBP3 - latent transforming growth factor beta binding protein 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4054

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	References	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	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07878	LTBP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07879	LTBP3 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	LTBP3	NCBI