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

THSD4 - thrombospondin type 1 domain containing 4 Gene

Homo sapiens

Also known as AAT12; ADAMTSL6; FVSY9334; PRO34005; ADAMTSL-6

Gene ID: 79875 | Gene type: protein coding

About 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.

Summary

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 Products(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

THSD4 Protein Structure

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)

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  • 1018 a.a.
Protein Preferred Names Protein Names

thrombospondin type-1 domain-containing protein 4

A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6

Related Diseases

Diseases Alias
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

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
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