1. Gene
  2. LTBP2 - latent transforming growth factor beta binding protein 2 Gene

LTBP2 - latent transforming growth factor beta binding protein 2 Gene

Homo sapiens

Also known as WMS3; GLC3D; LTBP3; MSPKA; MSTP031; C14orf141

Gene ID: 4053 | Gene type: protein coding

About LTBP2

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:74,498,183-74,612,237 (from NCBI)

This gene has 6 transcripts (splice variants), 131 orthologues, 3 paralogues and is associated with 9 phenotypes. Broad expression in lung (RPKM 30.6), ovary (RPKM 21.5) and 19 other tissues.

Summary

The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]

LTBP2 Products(1)

mRNA Protein Name
NM_000428.3 NP_000419.1 latent-transforming growth factor beta-binding protein 2 precursor
Protein Preferred Names Protein Names

latent-transforming growth factor beta-binding protein 2

LTBP-2

Related Diseases

Diseases Alias
Weill-Marchesani Syndrome 3

WMS3

Weill-Marchesani Syndrome 3, Recessive

Glaucoma 3, Primary Congenital, D

GLC3D

Primary Congenital Glaucoma 3d

Glaucoma, Congenital, Primary, Type 3d

Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma

MSPKA

Megalocornea - Spherophakia - Secondary Glaucoma

Glaucoma Secondary To Spherophakia/Ectopia Lentis And Megalocornea

Megalocornea-Spherophakia-Secondary Glaucoma Syndrome

Microspherophakia And/Or Megalocornea, With Ectopia Lentis, With/Without Secondary Glaucoma

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

Weill-Marchesani Syndrome 1

Spherophakia-Brachymorphia Syndrome

WMS1

Weill-Marchesani Syndrome, Autosomal Recessive

Mesodermal Dysmorphodystrophy, Congenital

Weill-Marchesani Syndrome 1, Recessive

Autosomal Recessive Weill-Marchesani Syndrome

Congenital Mesodermal Dysmorphodystrophy

Weill-Marchesani Syndrome

Weill-Marchesani Syndrome, Autosomal Dominant

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

Marfan Syndrome

MFS

Mfs1

Marfan'S Syndrome

Marfan Syndrome Type 1

Marfan Syndrome, Type I

Mass Phenotype

Contractural Arachnodactyly

Mass Syndrome

Octd

Overlap Connective Tissue Disease

Marfanoid Hypermobility Syndrome

Marfan Disease

Glaucoma 3, Primary Infantile, B

GLC3B

Primary Congenital Glaucoma

Glaucoma, Primary Congenital, Type B

Glc3, Type B

Glaucoma 3 Primary Infantile B

Glc3 Type B

Glaucoma Primary Congenita Type 3b

Primary Congenital Glaucoma Type 3b

Glaucoma, Primary Infantile Type 3b

Exfoliation Syndrome

Pseudoexfoliation Glaucoma

Pseudoexfoliation Syndrome

Exfoliation Syndrome, Susceptibility To

XFS

Exfoliation Glaucoma

Xfg

Pseudoexfoliation Of The Lens

Pexg

Pexs

Exfoliative Syndrome

Glaucoma Capsulare

Pex

Pseudo-Exfoliation Syndrome

Primary Congenital Glaucoma
Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos

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

Megalocornea

Isolated Congenital Megalocornea

Congenital Anterior Megalophthalmia

Anterior Megalophthalmos

Mgc1

Mgcn

Congenital Keratoglobus

Corneal Edema

Corneal Oedema

Infiltrate Of Cornea

Excessive Tearing

Epiphora

Lacrimal Apparatus Diseases

Excessive Tear Production

Watering Eye

Hydrophthalmos
Geleophysic Dysplasia 3

GPHYSD3

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

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

Geleophysic Dysplasia 2

GPHYSD2

Geleophysic Dwarfism

Dysplasia, Geleophysic, Type 2

Geleophysic Dysplasia

Geleophysic Dysplasia 1

GPHYSD1

Geleophysic Dwarfism

Geleophysic Dysplasia

Brachyolmia

Brachyrachia

Acromicric Dysplasia

ACMICD

Acromicric Skeletal Dysplasia

Dysplasia, Acromicric

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

Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

Stiff Skin Syndrome

SSKS

Stiff Skin

Phacogenic Glaucoma
Brachydactyly
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

Traumatic Glaucoma

Glaucoma Associated With Ocular Trauma

Lens Subluxation

Subluxation Of Lens

Aqueous Misdirection
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

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

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

Iris Disease

Iris Diseases

Primary Angle-Closure Glaucoma

Primary Angle Closure Glaucoma

Angle Closure Glaucoma

Acg - [Angle Closure Glaucoma]

Angle-Closure Glaucoma

Closed Angle Glaucoma

Acute Glaucoma

Prodromal Angle Closure Glaucoma

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

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

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

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

Intraocular Pressure Quantitative Trait Locus

Glaucoma

IOPQTL

Glaucoma, Susceptibility To

Postinfectious Glaucoma

Glaucoma With Ocular Inflammation

Glaucoma Secondary To Eye Inflammation

Traumatic Glaucoma

Glaucoma With Concussion Of Globe

Glaucoma Due To Ocular Trauma

Glaucoma Associated With Ocular Trauma

Glaucoma Secondary To Drugs

Nanophthalmos

Nanophthalmia

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

Glaucoma, Normal Tension

Low Tension Glaucoma

Glaucoma, Normal Tension, Susceptibility To

Normal Tension Glaucoma

Ntg

Glaucoma, Normal Pressure

NPG

Glaucoma, Normal Pressure, Susceptibility To

Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

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

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
Rattus norvegicus LTBP2 RGD RGD:68380
Canis familiaris LTBP2 VGNC VGNC:42857
Bos taurus LTBP2 VGNC VGNC:31072
Macaca mulatta LTBP2 VGNC VGNC:74457
Felis catus LTBP2 VGNC VGNC:68103
Mus musculus LTBP2 MGD MGI:99502