FBLN7 - fibulin 7 Gene

Homo sapiens

Also known as TM14

Gene ID: 129804 | Gene type: protein coding

About FBLN7

Cytogenetic location: 2q13-q14.1 Genomic coordinates (GRCh38): 2:112,138,385-112,244,708 (from NCBI)

This gene has 7 transcripts (splice variants), 210 orthologues and 8 paralogues. Broad expression in thyroid (RPKM 2.4), lymph node (RPKM 1.6) and 23 other tissues.

Summary

Predicted to enable calcium ion binding activity; heparan sulfate proteoglycan binding activity; and heparin binding activity. Predicted to be involved in cell adhesion. Predicted to act upstream of or within positive regulation of biomineralization. Located in focal adhesion. [provided by Alliance of Genome Resources, Apr 2022]

FBLN7 Products(2)

mRNA	Protein	Name
NM_001128165.2	NP_001121637.1	fibulin-7 isoform 2 precursor
NM_153214.3	NP_694946.2	fibulin-7 isoform 1 precursor

FBLN7 Protein Structure

Sushi

EGF

EGF_CA

0
100
200
300
400
439 a.a.

Protein Preferred Names

Protein Names

fibulin-7

FIBL-7

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia 45

SCA45

Spinocerebellar Ataxia Type 45

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

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

Corneal Dystrophy, Band-Shaped

Band Keratopathy

Band-Shaped Keratopathy

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

Doyne Honeycomb Retinal Dystrophy

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

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-RS04775	FBLN7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FBLN7	RGD	RGD:1310131
Bos taurus	FBLN7	VGNC	VGNC:28884
Felis catus	FBLN7	VGNC	VGNC:80094
Canis familiaris	FBLN7	VGNC	VGNC:40753
Mus musculus	FBLN7	MGD	MGI:1917620

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