2. Gene
  3. FBLN2 - fibulin 2 Gene

FBLN2 - fibulin 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 2199 | Gene type: protein coding

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

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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04773 FBLN2 Human Pre-designed siRNA Set A Pre-designed Sets / 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