ADAMTS-Like Protein 2

Alternative Names

  • ADAMTSL2
  • KIAA0605

Associated Diseases

Geleophysic Dysplasia 1
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OMIM Number

612277

NCBI Gene ID

9719

Uniprot ID

Q86TH1

Length

43,356 bases

No. of Exons

20

No. of isoforms

1

Protein Name

ADAMTS-like protein 2

Molecular Mass

104621 Da

Amino Acid Count

951

Genomic Location

chr9:133,532,163-133,575,518

Gene Map Locus
9q34.2

Description

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 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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001145320.1:c.215G>ASaudi ArabiaNC_000009.12:g.133537529G>APathogenicLikely PathogenicGeleophysic Dysplasia 1NG_009931.1:g.10366G>A; NM_001145320.1:c.215G>A; NP_001138792.1:p.Arg72Gln38790706430944
NM_001145320.1:c.338G>TSaudi ArabiaNC_000009.12:g.133539799G>TLikely PathogenicGeleophysic Dysplasia 1NG_009931.1:g.12636G>T; NM_001145320.1:c.338G>T; NP_001138792.1:p.Arg113Leu113994122
NM_014694.3:c.938T>CUnited Arab Emirates; ...NC_000009.12:g.133547212T>CLikely PathogenicGeleophysic Dysplasia 1NG_009931.1:g.20049T>C; NM_014694.3:c.938T>C; NP_055509.2:p.Met313Thr
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