1. Gene
  2. LTBP3 - latent transforming growth factor beta binding protein 3 Gene

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
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

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