FBLN5 - fibulin 5 Gene

Homo sapiens

Also known as EVEC; UP50; ADCL2; ARMD3; CMT1H; DANCE; ARCL1A; FIBL-5; HNARMD

Gene ID: 10516 | Gene type: protein coding

About FBLN5

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:91,869,411-91,947,694 (from NCBI)

This gene has 9 transcripts (splice variants), 193 orthologues, 6 paralogues and is associated with 10 phenotypes. Broad expression in gall bladder (RPKM 67.7), spleen (RPKM 57.2) and 24 other tissues.

Summary

The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]

FBLN5 Products(6)

mRNA	Protein	Name
NM_001384158.1	NP_001371087.1	fibulin-5 isoform 2 precursor
NM_001384159.1	NP_001371088.1	fibulin-5 isoform 3 precursor
NM_001384160.1	NP_001371089.1	fibulin-5 isoform 4 precursor
NM_001384161.1	NP_001371090.1	fibulin-5 isoform 5
NM_001384162.1	NP_001371091.1	fibulin-5 isoform 6
NM_006329.4	NP_006320.2	fibulin-5 isoform 1 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	15528465	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	19617354	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in elastic fiber assembly	IMP IMP: Inferred from mutant phenotype	17035250	GOA
involved in secretion	IDA IDA: Inferred from direct assay	20599547	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	17035250	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

FBLN5 Protein Structure

EGF_CA

cEGF

FXa_inhibition

EGF_CA

0
100
200
300
400
448 a.a.

Protein Preferred Names

Protein Names

fibulin-5

developmental arteries and neural crest EGF-like protein

Related Diseases

Diseases

Alias

Macular Degeneration, Age-Related, 3

ARMD3

Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration

Cutis Laxa, Autosomal Recessive, Type Ia

ARCL1A	Cutis Laxa, Autosomal Recessive
Autosomal Recessive Cutis Laxa Type Ia	Cutis Laxa, Autosomal Recessive, Type 1a
Arcl1	Cutis Laxa, Autosomal Recessive, 1a
Cl Type I	Cutis Laxa Autosomal Recessive Type I
Cutis Laxa Autosomal Recessive Type Ia	Cutis Laxa, Autosomal Recessive, Type I

Charcot-Marie-Tooth Disease, Demyelinating, Type 1h

Hereditary Motor And Sensory Neuropathy, Ih	Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
CMT1H	Charcot-Marie-Tooth Neuropathy, Type 1h
Hnarmd	Charcot-Marie-Tooth Disease, Demyelinating, 1h
Macular Degeneration, Age-Related, 3

Cutis Laxa, Autosomal Dominant 2

ADCL2	Autosomal Dominant Cutis Laxa 2
Cutis Laxa, Autosomal Dominant, 2	Cutis Laxa, Autosomal Dominant, Type 2

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant	Autosomal Dominant Cutis Laxa
ADCL1	Adcl
Autosomal Dominant Cutis Laxa 1	Cutis Laxa, Autosomal Dominant, 1
Cutis Laxa, Autosomal Dominant, Type 1

Fbln5-Related Cutis Laxa

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

Hereditary Sensorimotor Neuropathy With Hyperelastic Skin

Cutis Laxa

Generalized Elastolysis	Loose Skin
Dermatolysis	Dermatomegaly
Cutis Laxa Syndrome

Pelvic Organ Prolapse

Rectal Prolapse	Pelvic Organ Prolapse, Susceptibility To, 1
Pelvic Organ Prolapse, Susceptibility To	Prolapse Of Vagina And Rectum
Vaginal Prolapse	Pelvic Organ Prolapse 1
Procidentia, Rectum	Prolapse Of Rectal Mucosa
Procidentia Of Rectum	Rectal Mucosa Prolapse
Rectum Prolapse	Procidentia Rectum
Rp - [Rectal Prolapse]	Male Proctocele
Male Rectocele	Proctoptosis
Female Genital Prolapse	Female Prolapse
Incompetence Of Pelvic Fundus	Relaxation Of Perineum
Deficiency Of Perineum

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

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

Macs Syndrome

Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis	Mycobacterium Avium Complex Disease
Rin2 Syndrome	Mycobacterium Avium-Intracellulare Infection
Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis	Mycobacterium Avium Complex
Mycobacterium Avium Infection	Infection Due To Mycobacterium Intracellulare
Mac Disease	Macrocephaly-Alopecia-Cutis Laxa-Scoliosis Syndrome
Rin2 Deficiency	Tall Forehead-Sparse Hair-Skin Hyperextensibility-Scoliosis Syndrome
MACS	Macrocephaly Alopecia Cutis Laxa And Scoliosis Syndrome

Inguinal Hernia

Hernia Inguinal	Hernia, Inguinal
Inguinal Hernias	Bubonocele
Indirect Inguinal Hernia	Direct Inguinal Hernia
Oblique Inguinal Hernia	Scrotal Hernia
Ih - [Inguinal Hernia]

Aortic Dissection

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

Basal Laminar Drusen

Drusen Of Bruch Membrane	Drusen, Cuticular
Drusen, Early Adult-Onset, Grouped	Cuticular Drusen
Early Adult-Onset Grouped Drusen	BLD
Drusen Cuticular	Drusen Early Adult-Onset Grouped

Cutis Laxa, Autosomal Recessive, Type Ib

ARCL1B	Cutis Laxa, Autosomal Recessive, Type 1b
Autosomal Recessive Cutis Laxa Type Ib	Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency
Cutis Laxa, Autosomal Recessive, 1b	Cutis Laxa Autosomal Recessive Type Ib

Macular Degeneration, Age-Related, 1

Macular Degeneration	Age-Related Macular Degeneration
Macular Degeneration, Age-Related	Age Related Macular Degeneration
Age Related Macular Degeneration 1	ARMD1
Senile Macular Degeneration	Maculopathy, Age-Related, 1
Macular Degeneration, Age-Related, Reduced Risk Of	Age Related Maculopathy 1
Age Related Maculopathies	Age Related Maculopathy
Senile Macular Retinal Degeneration	Macular Degeneration Of Retina
Age-Related Maculopathy	Amd
Armd	Age-Related Maculopathy, Susceptibility To
Maculopathy Age-Related	Macular Degeneration, Age-Related, 1, Susceptibility To
Maculopathy, Age-Related	Macular Degeneration, Age-Related, Type 1
Macular Degeneration, Age-Related, 2

Charcot-Marie-Tooth Disease Type 1g

Pmp2-Related Charcot-Marie-Tooth Disease Type 1	Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1
Pmp2-Related Cmt1	Pmp2-Related Hereditary Motor And Sensory Neuropathy Type 1
Cmt1g

Doyne Honeycomb Retinal Dystrophy

DHRD	Doyne Honeycomb Degeneration Of Retina
Dhd	Malattia Leventinese
Ml	Mlvt
Dystrophy, Retinal, Doyne Honeycomb

Cutis Laxa, Autosomal Recessive, Type Iib

ARCL2B	Cutis Laxa With Progeroid Features
Autosomal Recessive Cutis Laxa Type 2b	Autosomal Recessive Cutis Laxa Type Iib
Arcl2, Progeroid Type	Cutis Laxa, Autosomal Recessive Type 2b
Autosomal Recessive Cutis Laxa Type 2, Progeroid Type	Cutis Laxa, Autosomal Recessive, 2b
Cl Type Iib	Cutis Laxa Autosomal Recessive Type Iib
Cutis Laxa, Autosomal Recessive, Type 2b

Autosomal Recessive Cutis Laxa Type Iii

De Barsy Syndrome	Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome
Progeroid Syndrome, De Barsy Type	Corneal Clouding, Cutis Laxa And Intellectual Disability
Cutis Laxa Growth Deficiency Syndrome	Progeroid Syndrome Of De Barsy

Pneumothorax

Pneumothorax Nos	Air Leak Nos
Pleural Air Leak Nos

Cutis Laxa, Autosomal Recessive, Type Iia

ARCL2A	Cutis Laxa With Joint Laxity And Retarded Development
Cutis Laxa With Growth And Developmental Delay	Cutis Laxa, Debre Type
Cutis Laxa With Bone Dystrophy	Arcl2
Cutis Laxa With Congenital Disorder Of Glycosylation	Autosomal Recessive Cutis Laxa Type Iia
Cutis Laxa, Autosomal Recessive Type 2a	Cutis Laxa, Autosomal Recessive, 2a
Cl Type Iia	Cutis Laxa Autosomal Recessive Type Iia

Retinal Drusen

Arterial Tortuosity Syndrome

Arterial Tortuosity	Ats
ATORS	Tortuosity, Arterial, Syndrome

Ureteric Orifice Cancer

Malignant Neoplasm Of Ureteric Orifice Of Urinary Bladder	Malignant Tumor Of Ureteric Orifice
Orifice Of The Ureter

Cardiomyopathy, Dilated, 1l

Dilated Cardiomyopathy 1l	CMD1L
Cardiomyopathy, Dilated 1l	Cardiomyopathy, Dilated, Type 1l

Autosomal Recessive Cutis Laxa Type Ii Classic Type

Arcl2, Classic Type	Arcl2, Debre Type
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Autosomal Recessive Cutis Laxa Type 2, Debre Type

Occipital Horn Syndrome

OHS	Eds Ix
Cutis Laxa X-Linked	Cutis Laxa, X-Linked
Cutis Laxa, X-Linked, Formerly	Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly
Eds Ix, Formerly	Eds9, Formerly
Ehlers-Danlos Syndrome Type 9	Ehlers-Danlos Syndrome Type Ix
X-Linked Cutis Laxa	Ehlers-Danlos Syndrome, Occipital Horn Type
Eds9	Ehlers-Danlos Syndrome Occipital Horn Type

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica	Geroderma Osteodysplastica
GO	Walt Disney Dwarfism
Type Of Gerodermia Osteodysplastica

Phacogenic Glaucoma

Ehlers-Danlos Syndrome, Vascular Type

Eds Iv	Eds4
Vascular Ehlers-Danlos Syndrome	Veds
Sack-Barabas Syndrome	EDSVASC
Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant	Vascular Type Ehlers-Danlos Syndrome
Arterial-Ecchymotic Eds	Ehlers-Danlos Syndrome Type 4
Vascular Eds	Ehlers-Danlos Syndrome, Type 4
Ehlers-Danlos Syndrome, Type Iv	Ehlers-Danlos Syndrome, Arterial Type
Ehlers-Danlos Syndrome, Ecchymotic Type	Ehlers-Danlos Syndrome, Sack-Barabas Type
Autosomal Dominant Type Iv Ehlers-Danlos Syndrome	Eds Type Iv
Eds Type 4	Ehlers Danlos Syndrome, Sack-Barabas Type
Ehlers Danlos Syndrome, Arterial Type	Ehlers Danlos Syndrome, Ecchymotic Type
Ehlers-Danlos Syndrome Type Iv	Ehlers-Danlos Syndrome 4
Ehlers-Danlos Syndrome Arterial Type	Ehlers-Danlos Syndrome Ecchymotic Type
Ehlers-Danlos Syndrome, Type 4 Variant	Ehlers-Danlos, Vascular Type Syndrome

Bladder Diverticulum

Diverticulum Of Bladder	Diverticulum - Bladder
Bladder Diverticula	Vesical Diverticulum
Bladder Sacculation

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Tibialis Tendinitis

Charcot-Marie-Tooth Disease And Deafness

Charcot-Marie-Tooth Disease Type 1e	CMT1E
Charcot-Marie-Tooth Disease Type 1	Hereditary Motor And Sensory Neuropathy Type 1
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e	Charcot-Marie-Tooth Disease, Type I
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant	Charcot-Marie-Tooth Disease, Type 1e
Charcot-Marie-Tooth Disease Demyelinating Type 1e	Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
Cmt1	Charcot-Marie-Tooth Neuropathy Type 1
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness	Charcot-Marie-Tooth Disease-Deafness
Charcot-Marie-Tooth Type 1	Hmsn1
Hereditary Motor And Sensory Neuropathy 1	Cmt 1e
Charcot Marie Tooth Disease Type 1e	Charcot-Marie-Tooth Disease-Deafness Syndrome
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome	Charcot-Marie-Tooth Disease 1e
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant	Charcot-Marie-Tooth Neuropathy Type 1e
Charcot-Marie-Tooth Disease, Type Ie	Hereditary Motor And Sensory Neuropathy Type I

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Plethora Of Newborn

Neonatal Polycythemia

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Macular Degeneration, Age-Related, 4

Age Related Macular Degeneration 4	ARMD4
Macular Degeneration, Age-Related, Type 4

Loeys-Dietz Syndrome

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

Scoliosis

Wrinkly Skin Syndrome

WSS	Wrinkled Skin 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

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

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

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04774	FBLN5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FBLN5	RGD	RGD:2594
Canis familiaris	FBLN5	VGNC	VGNC:40752
Felis catus	FBLN5	VGNC	VGNC:62168
Bos taurus	FBLN5	VGNC	VGNC:28883
Macaca mulatta	FBLN5	VGNC	VGNC:72622
Mus musculus	FBLN5	MGD	MGI:1346091