FBN2 - fibrillin 2 Gene

Also Known as CCA; DA9; EOMD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2201

About FBN2

Cytogenetic location: 5q23.3 Genomic coordinates (GRCh38): 5:128,257,909-128,538,245 (from NCBI)

This gene has 13 transcripts (splice variants), 154 orthologues, 2 paralogues and is associated with 5 phenotypes. Biased expression in placenta (RPKM 46.2), testis (RPKM 4.0) and 1 other tissue.

Summary

The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]

FBN2 Products (1)

mRNA	Protein	Name
NM_001999.4	NP_001990.2	fibrillin-2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables hormone activity	IDA IDA: Inferred from direct assay	32329225	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12429738	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in camera-type eye development	IEP IEP: Inferred from expression pattern	25406291	GOA
involved in embryonic eye morphogenesis	IEP IEP: Inferred from expression pattern	25406291	GOA
involved in placenta development	IDA IDA: Inferred from direct assay	32329225	GOA
involved in regulation of trophoblast cell migration	IDA IDA: Inferred from direct assay	32329225	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in extracellular space	IDA IDA: Inferred from direct assay	32329225	GOA
located in microfibril	IDA IDA: Inferred from direct assay	8120105	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

FBN2 Protein Structure

EGF_CA

FXa_inhibition

EGF_CA

0
500
1000
1500
2000
2500
2912 a.a.

Protein Preferred Names	Protein Names
fibrillin-2	fibrillin 5

FBN2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FBN2	P35556	FN1	Homo sapiens	P02751	Solid Phase Assay	25034023

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Macular Degeneration, Early-Onset	EOMD
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
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
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
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Csf1r-Related Brain Malformation And Osteopetrosis	Osteoporosis And Infantile Neuroaxonal Dystrophy
Scoliosis
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Arthrogryposis, Distal, Type 5	Oculomelic Amyoplasia Distal Arthrogryposis Type 5 Distal Arthrogryposis Type Iib DA5 Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities Daiib Distal Arthrogryposis Type 2b Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome Distal Arthrogryposis With Ophthalmoplegia Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome Arthrogryposis, Distal, Type Iib Da2b Freeman-Sheldon Syndrome Variant Sheldon-Hall Syndrome Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities Arthrogryposis Ophthalmoplegia Retinopathy Arthrogryposis, Distal, 5 Arthrogryposis, Distal, Type 2b
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Arthrogryposis, Distal, Type 7	Hecht Syndrome Trismus-Pseudocamptodactyly Syndrome Distal Arthrogryposis Type 7 Dutch-Kentucky Syndrome DA7 Hecht-Beals Syndrome Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons Arthrogryposis Distal Type 7 Trismus Pseudocamptodactyly Syndrome Arthrogryposis, Distal, 7
Stiff Skin Syndrome	SSKS Stiff Skin
Tricuspid Valve Prolapse
Arthrogryposis, Distal, Type 6	Distal Arthrogryposis Type 6 DA6 Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome Arthrogryposis And Sensorineural Deafness Familial Hand Abnormality And Sensori-Neural Deafness Arthrogryposis-Like Hand Anomaly And Sensorineural Deafness Arthrogryposis-Like Hand Anomaly-Sensorineural Hearing Loss Syndrome
Arthrogryposis, Distal, Type 2a	Freeman-Sheldon Syndrome Craniocarpotarsal Dystrophy Craniocarpotarsal Dysplasia DA2A Whistling Face-Windmill Vane Hand Syndrome Fss Distal Arthrogryposis Type 2a Whistling Face Syndrome Freeman-Burian Syndrome Arthrogryposis Distal Type 2a Distal Arthrogryposis, Type 2a Fbs Arthrogryposis, Distal, 2a
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Acromicric Dysplasia	ACMICD Acromicric Skeletal Dysplasia Dysplasia, Acromicric
Brachydactyly, Type A4	Brachymesophalangy Ii And V Temtamy Type Brachydactyly Brachydactyly Type A4 BDA4 Brachymesophalangy 2 And 5 Brachydactyly Temtamy Type Brachydactyly, Temtamy Type
Arthrogryposis, Distal, Type 5d	Distal Arthrogryposis Type 5d DA5D Distal Arthrogryposis Type 5 Without Ophthalmoparesis Distal Arthrogryposis Type 5 Without Ophthalmoplegia Arthrogryposis, Distal, 5d
Stickler Syndrome, Type I	Stickler Syndrome 1 Stickler Syndrome Type 1 STL1 Aom Stickler Syndrome, Type 1 Stickler Syndrome, Vitreous Type 1 Stickler Syndrome, Membranous Vitreous Type Arthroophthalmopathy, Hereditary Progressive Arthro-Ophthalmopathy Hereditary Progressive Stickler Syndrome Membranous Vitreous Type Stickler Syndrome Type I Stickler Syndrome Vitreous Type 1
Aortic Aneurysm	Aortic Rupture Thoracoabdominal Aortic Aneurysm, Ruptured Ruptured Aortic Aneurysm Aortic Aneurysms Aortic Aneurysm Without Mention Of Rupture Nos Ruptured Abdominal Aortic Aneurysm Aortic Aneurysm, Ruptured Ruptured Thoracic Aortic Aneurysm
Tibialis Tendinitis
Arthrogryposis, Distal, Type 4	Distal Arthrogryposis Type 4 DA4 Daiid Arthrogryposis-Severe Scoliosis Syndrome Distal Arthrogryposis Type Iid Arthrogryposis With Severe Scoliosis Arthrogryposis, Distal, Type Iid
Achard Syndrome	Arachnodactyly, Receding Lower Jaw And Joint Laxity Of Hands/Feet
Geleophysic Dysplasia	Geleophysic Dwarfism Gphysd
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
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
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
Postural Orthostatic Tachycardia Syndrome	Irritable Heart Mitral Valve Prolapse Syndrome Neurocirculatory Asthenia Orthostatic Intolerance Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orhtostatic Intolerance Postural Tachycardia Syndrome Due To Net Deficiency Soldiers Heart
Arthrogryposis, Distal, Type 10	DA10 Distal Arthrogryposis Type 10 Short Achilles Tendon Plantar Flexion Contracture Short Tendo Calcaneus Congenital Plantar Contractures Tendo Calcaneus, Short
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
Loeys-Dietz Syndrome 1	Furlong Syndrome Loeys-Dietz Aortic Aneurysm Syndrome LDS1 Aat5 Loeys-Dietz Syndrome Type 1 Aortic Aneurysm, Familial Thoracic 5 Familial Throacic Aortic Aneurysm 5 Loeys-Dietz Syndrome Aortic Aneurysm Syndrome, Loeys-Dietz Type Familial Thoracic Aortic Aneurysm 5 Ldas Marfanoid Disorder-Craniosynostosis Syndrome Aneurysm, Aortic, Thoracic, Familial, Type 5 Loeys-Dietz Syndrome, Type 1 Loeys-Dietz Syndrome, Type 2a
Fraser Syndrome 1	Fraser Syndrome Cryptophthalmos With Other Malformations Cryptophthalmos Syndrome FRASRS1 Cryptophthalmos-Syndactyly Syndrome Fraser-Francois Syndrome Cyclopism Meyer-Schwickerath'S Syndrome Ulrich-Feichtiger Syndrome Cryptophthalmos Syndactyly Syndrome Fraser'S Syndrome Meyer-Schwickerath Syndrome Ullrich-Feichtiger Syndrome
Lens Subluxation	Subluxation Of Lens
Aortic Dissection
Duodenal Atresia	Duodenal Stenosis Familial Duodenal Atresia
Supravalvular Aortic Stenosis	SVAS Supravalvar Aortic Stenosis Supravalvar Aortic Stenosis, Eisenberg Type Aortic Supravalvular Stenosis Aortic Stenosis, Supravalvular Supra-Valvular Aortic Stenosis Stenosis, Aortic Supravalvular Stenosis, Supravalvular Aortic Supravalvular Stenosis, Aortic Aortic Stenosis Supravalvular
Mitral Valve Disease	Chronic Rheumatic Mitral Valve Rheumatic Mitral Insufficiency Disease Of Mitral Valve Mitral Rh Valve Dis. Rheumatic Disease Of Mitral Valve Rheumatic Mitral Valve Changes Rheumatic Mitral Valve Incompetence Rheumatic Mitral Valve Regurgitation Abnormality Of The Mitral Valve Diseases Of Mitral Valve Rheumatic Mitral Regurgitation
Aortic Valve Insufficiency	Aortic Regurgitation Rheumatic Aortic Regurgitation Aortic Insufficiency Rheumatic Aortic Insufficiency Rheumatic Aortic Valve Insufficiency Aortic Incompetence Corrigan'S Disease Rheumatic Aortic Valve Regurgitation Aortic Valve Incompetency Ai - [Aortic Incompetence] Incompetent Aortic Valve Ar - [Aortic Regurgitation] Calcific Aortic Valve Regurgitation Myxomatous Aortic Valve Regurgitation Annular Incompetency Of Aortic Valve Austin Flint Murmur Flint Murmur Rheumatic Aortic Incompetence Rheumatic Ai - [Aortic Insufficiency]
Bone Structure Disease
Enophthalmos
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
Rhabdomyosarcoma
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04777	FBN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22168	Fbn2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28690	Fbn2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	FBN2	VGNC	VGNC:52231
Canis familiaris	FBN2	VGNC	VGNC:40755
Macaca mulatta	FBN2	VGNC	VGNC:72624
Mus musculus	FBN2	MGD	MGI:95490
Rattus norvegicus	FBN2	RGD	RGD:620910
Felis catus	FBN2	VGNC	VGNC:62170
Others	FBN2	NCBI