FBLN7 - fibulin 7 Gene

Also Known as TM14

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 129804

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

Sushi: Sushi repeat (SCR repeat) (81 - 134)

EGF

EGF: EGF-like domain (140 - 169)

EGF_CA

EGF_CA: Calcium-binding EGF domain (224 - 268)

EGF_CA

EGF_CA: Calcium-binding EGF domain (270 - 318)

  • 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

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
Others FBLN7 NCBI