THSD4 - thrombospondin type 1 domain containing 4 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79875

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
Biological Process GO Annotation Evidence References Source
involved in microfibril assembly IMP
IMP: Inferred from mutant phenotype
32855533 GOA
Cellular Component GO Annotation Evidence References Source
located in microfibril IMP
IMP: Inferred from mutant phenotype
32855533 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 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
Others THSD4 NCBI