ADAMTSL2

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]

Description

ADAMTS like 2

Tissue specificity

Tissue enhanced (heart muscle, liver)

Subcell location

Vesicles

Predicted location

Intracellular, Secreted in other tissues

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

9 (133532164 - 133575519)

Ensembl ID

ENSG00000197859  (ver. 103.38)

Orthologs

Mouse Adamtsl2: ENSMUSG00000036040

UniProt

Q86TH1

neXtProt

NX_Q86TH1

Human splice variants
Mouse splice variants

Protein structure