FBLN2 - fibulin 2 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2199

About FBLN2

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:13,549,125-13,638,404 (from NCBI)

This gene has 7 transcripts (splice variants), 254 orthologues, 6 paralogues and is associated with 78 phenotypes. Broad expression in fat (RPKM 72.6), placenta (RPKM 47.4) and 15 other tissues.

Summary

This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

FBLN2 Products (3)

mRNA Protein Name
NM_001004019.2 NP_001004019.1 fibulin-2 isoform a precursor
NM_001165035.2 NP_001158507.1 fibulin-2 isoform a precursor
NM_001998.3 NP_001989.2 fibulin-2 isoform b precursor

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19349279 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

FBLN2 Protein Structure

ANATO

ANATO: Anaphylotoxin-like domain (445 - 480)

ANATO

ANATO: Anaphylotoxin-like domain (521 - 553)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (613 - 644)

EGF_CA

EGF_CA: Calcium-binding EGF domain (719 - 759)

EGF_CA

EGF_CA: Calcium-binding EGF domain (764 - 808)

EGF_CA

EGF_CA: Calcium-binding EGF domain (810 - 856)

EGF_CA

EGF_CA: Calcium-binding EGF domain (858 - 894)

cEGF

cEGF: Complement Clr-like EGF-like (923 - 946)

cEGF

cEGF: Complement Clr-like EGF-like (962 - 985)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1025 - 1073)

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  • 1184 a.a.
Protein Preferred Names Protein Names

fibulin-2

  • FIBL-2

FBLN2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FBLN2 P98095 JOSD1 Homo sapiens Q15040
Validated Y2H
32296183
Intra
FBLN2 P98095 HSD3B7 Homo sapiens Q9H2F3
Validated Y2H
32296183
Intra
FBLN2 P98095 LCE3D Homo sapiens Q9BYE3
Validated Y2H
32296183
Intra
FBLN2 P98095 FBXW5 Homo sapiens Q969U6
Validated Y2H
32296183
Intra
FBLN2 P98095 ZNF414 Homo sapiens Q96IQ9
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

FBLN2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P85165 Fibulin-2 Antibody (YA4857) WB, ELISA Human

Related Diseases

Diseases Alias
Osteochondritis Dissecans

  • Osteochondritis

  • Ocd

  • Konig Disease
Cutis Laxa

  • Generalized Elastolysis

  • Loose Skin

  • Dermatolysis

  • Dermatomegaly

  • Cutis Laxa Syndrome
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
Gaucher Disease, Type Ii

  • GD2

  • Gd Ii

  • Gaucher Disease, Acute Neuronopathic Type

  • Gaucher Disease Type 2

  • Gaucher Disease Type Ii

  • Gaucher'S Disease Type Ii

  • Infantile Cerebral Gaucher Disease

  • Acute Neuronopathic Gaucher Disease

  • Gd 2

  • Gaucher Disease, Infantile Cerebral

  • Gaucher Disease 2

  • Type 2 Gaucher Disease

  • Gaucher Disease, Type 2
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
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
Atrioventricular Septal Defect

  • AVSD

  • Atrioventricular Canal Defect

  • Avcd

  • Endocardial Cushion Defect

  • Ecd

  • Avc Defect

  • Atrioventricular Septal Defect, Susceptibility To, 1

  • Atrioventricular Septal Defect 1

  • Endocardial Cushion Defects

  • Septal Defect, Atrioventricular

  • Atrioventricular Defect With Atrial Shunting Only

  • Incomplete Atrioventricular Septal Defect With Isolated Atrial Component

  • Incomplete Atrioventricular Canal Defect With Isolated Atrial Component

  • Primum Atrial Septal Defect

  • Partial Atrioventricular Canal Defect With Isolated Atrial Component

  • Partial Atrioventricular Septal Defect, Ostium Primum Type

  • Ostium Primum Atrial Septal Defect

  • Partial Atrioventricular Canal Defect

  • Partial Atrioventricular Septal Defect

  • Atrial Septum Primum Defect

  • Atrioventricular Canal Defect With Isolated Ventricular Component

  • Atrioventricular Canal Defect With Isolated Ventricular Communication

  • Atrioventricular Septal Defect With Isolated Ventricular Component

  • Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting

  • Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve

  • Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves

  • Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect

  • Intermediate Atrioventricular Canal Defect

  • Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices

  • Intermediate Atrioventricular Septal Defect

  • Transitional Atrioventricular Canal Defect

  • Transitional Atrioventricular Septal Defect

  • Complete Atrioventricular Canal With Atrial And Ventricular Components

  • Complete Atrioventricular Canal Defect

  • Complete Atrioventricular Septal Defect
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-RS04773 FBLN2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21569 Fbln2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28087 Fbln2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus FBLN2 RGD RGD:628685
Macaca mulatta FBLN2 VGNC VGNC:72621
Canis familiaris FBLN2 VGNC VGNC:40751
Mus musculus FBLN2 MGD MGI:95488
Bos taurus FBLN2 VGNC VGNC:28882
Felis catus FBLN2 VGNC VGNC:62167
Others FBLN2 NCBI