FBLN7 - fibulin 7 Gene
Also Known as TM14
Species: Homo sapiens
About FBLN7
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 repeat (SCR repeat) (81 - 134)
EGF: EGF-like domain (140 - 169)
EGF_CA: Calcium-binding EGF domain (224 - 268)
EGF_CA: Calcium-binding EGF domain (270 - 318)
- 0
- 100
- 200
- 300
- 400
- 439 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
fibulin-7 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spinocerebellar Ataxia 45 |
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| Cutis Laxa, Autosomal Recessive, Type Ia |
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| Cutis Laxa, Autosomal Recessive, Type Ib |
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| Corneal Dystrophy, Band-Shaped |
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| Autosomal Recessive Cutis Laxa Type I |
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| Autosomal Recessive Cutis Laxa Type Ii Classic Type |
|
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| Doyne Honeycomb Retinal Dystrophy |
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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 |