1. Gene
  2. THSD4 - thrombospondin type 1 domain containing 4 Gene

THSD4 - thrombospondin type 1 domain containing 4 Gene

中文名称:含血小板反应蛋白 1 型域 4

种属: Homo sapiens

同用名: AAT12; ADAMTSL6; FVSY9334; PRO34005; ADAMTSL-6

基因 ID: 79875 | 基因类型: protein coding

关于 THSD4

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:71,096,894-71,783,383 (from NCBI)

This gene has 7 transcripts (splice variants), 205 orthologues, 25 paralogues and is associated with 1 phenotype. Broad expression in esophagus (RPKM 9.7), prostate (RPKM 9.0) and 20 other tissues.

功能概要

预测启用水解酶活性。预测为细胞外基质结构成分。预计在弹性纤维组件的上游或内部起作用。位于含胶原蛋白的细胞外基质和细胞外外泌体中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable hydrolase activity. Predicted to be an extracellular matrix structural constituent. Predicted to act upstream of or within elastic fiber assembly. Located in collagen-containing extracellular matrix and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

THSD4 基因产物(3)

mRNA Protein Name
NM_001286429.2 NP_001273358.1 thrombospondin type-1 domain-containing protein 4 isoform 2 precursor
NM_001394532.1 NP_001381461.1 thrombospondin type-1 domain-containing protein 4 isoform 1 precursor
NM_024817.3 NP_079093.2 thrombospondin type-1 domain-containing protein 4 isoform 1 precursor
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in microfibril assembly IMP
IMP: 通过突变表型推断
32855533 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in microfibril IMP
IMP: 通过突变表型推断
32855533 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

THSD4 蛋白结构

TSP_1

TSP_1: Thrombospondin type 1 domain (58 - 81)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (413 - 527)

TSP_1

TSP_1: Thrombospondin type 1 domain (627 - 653)

TSP_1

TSP_1: Thrombospondin type 1 domain (683 - 706)

TSP_1

TSP_1: Thrombospondin type 1 domain (743 - 793)

TSP_1

TSP_1: Thrombospondin type 1 domain (859 - 912)

TSP_1

TSP_1: Thrombospondin type 1 domain (919 - 967)

PLAC

PLAC: PLAC (protease and lacunin) domain (974 - 1006)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1018 a.a.
蛋白主名 其他名称

thrombospondin type-1 domain-containing protein 4

A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6

关联疾病

疾病名称 别名
Aortic Aneurysm, Familial Thoracic 12

AAT12

Ectopia Lentis 1, Isolated, Autosomal Dominant

ECTOL1

Ectopia Lentis, Familial

Autosomal Dominant Isolated Ectopia Lentis 1

Ectopia Lentis 2, Isolated, Autosomal Recessive

ECTOL2

Ectopia Lentis, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Ectopia Lentis 2

Autosomal Recessive Isolated Ectopia Lentis

Ectopia Lentis, Isolated Autosomal Recessive

Ectopia Lentis, Isolated Autosomal Recessive, Type 2

Isolated Ectopia Lentis

Familial Ectopia Lentis

Ectopia Lentis

Ectopia Lentis Syndrome

Lens Subluxation

Iel

Congenital Ectopia Lentis

Subluxation Of Lens

Ectopia Lentis, Isolated

Ectopia Lentis Isolated

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

Phacolytic Glaucoma
Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters

Weill-Marchesani Syndrome

Gemss Syndrome

Spherophakia-Brachymorphia Syndrome

Marchesani-Weill Syndrome

Wms

Congenital Mesodermal Dystrophy

Mesodermal Dysmorphodystrophy, Congenital

Spherophakia Brachymorphia Syndrome

Mesodermal Dysmorphodystrophy Congenital

Wm Syndrome

Brachydactyly-Spherophakia Syndrome

Brachymorphy With Spherophakia Syndrome

Congenital Mesodermal Dysmorphodystrophy

Marchesani Syndrome

Weill-Marchesani Syndrome, Autosomal Recessive

Weill-Marchesani Syndrome, Autosomal Dominant

Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

Acromicric Dysplasia

ACMICD

Acromicric Skeletal Dysplasia

Dysplasia, Acromicric

Winchester Syndrome

WNCHRS

Winchester Disease

Winchester-Grossman Syndrome

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

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
Felis catus THSD4 VGNC VGNC:80822
Mus musculus THSD4 MGD MGI:2672033
Canis familiaris THSD4 VGNC VGNC:103650
Macaca mulatta THSD4 VGNC VGNC:99269
Rattus norvegicus THSD4 RGD RGD:1566296