1. Gene
  2. FBLN7 - fibulin 7 Gene

FBLN7 - fibulin 7 Gene

中文名称:纤维蛋白 7

种属: Homo sapiens

同用名: TM14

基因 ID: 129804 | 基因类型: protein coding

关于 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.

功能概要

预测可启用钙离子结合活性;硫酸乙酰肝素蛋白多糖结合活性;和肝素结合活性。预计参与细胞粘附。预计在生物矿化的正调节上游或正调节内起作用。位于粘着斑。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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 蛋白结构

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)

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  • 439 a.a.
蛋白主名 其他名称

fibulin-7

FIBL-7

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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