ADAMTSL2

Protein identityUniProt · HPA

UniProt accession

Q86TH1

Gene

ADAMTSL2

Ensembl

ENSG00000197859

Chromosome

9

Canonical length

951 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins, Predicted secreted proteins

Subcellular location

Vesicles

Secretome location

Secreted in other tissues

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

951 residues, UniProt reviewed canonical sequence.

>Q86TH1|ADAMTSL2
     1  MDGRWQCSCW AWFLLVLAVV AGDTVSTGST DNSPTSNSLE GGTDATAFWW GEWTKWTACS
    61  RSCGGGVTSQ ERHCLQQRRK SVPGPGNRTC TGTSKRYQLC RVQECPPDGR SFREEQCVSF
   121  NSHVYNGRTH QWKPLYPDDY VHISSKPCDL HCTTVDGQRQ LMVPARDGTS CKLTDLRGVC
   181  VSGKCEPIGC DGVLFSTHTL DKCGICQGDG SSCTHVTGNY RKGNAHLGYS LVTHIPAGAR
   241  DIQIVERKKS ADVLALADEA GYYFFNGNYK VDSPKNFNIA GTVVKYRRPM DVYETGIEYI
   301  VAQGPTNQGL NVMVWNQNGK SPSITFEYTL LQPPHESRPQ PIYYGFSESA ESQGLDGAGL
   361  MGFVPHNGSL YGQASSERLG LDNRLFGHPG LDMELGPSQG QETNEVCEQA GGGACEGPPR
   421  GKGFRDRNVT GTPLTGDKDD EEVDTHFASQ EFFSANAISD QLLGAGSDLK DFTLNETVNS
   481  IFAQGAPRSS LAESFFVDYE ENEGAGPYLL NGSYLELSSD RVANSSSEAP FPNVSTSLLT
   541  SAGNRTHKAR TRPKARKQGV SPADMYRWKL SSHEPCSATC TTGVMSAYAM CVRYDGVEVD
   601  DSYCDALTRP EPVHEFCAGR ECQPRWETSS WSECSRTCGE GYQFRVVRCW KMLSPGFDSS
   661  VYSDLCEAAE AVRPEERKTC RNPACGPQWE MSEWSECTAK CGERSVVTRD IRCSEDEKLC
   721  DPNTRPVGEK NCTGPPCDRQ WTVSDWGPCS GSCGQGRTIR HVYCKTSDGR VVPESQCQME
   781  TKPLAIHPCG DKNCPAHWLA QDWERCNTTC GRGVKKRLVL CMELANGKPQ TRSGPECGLA
   841  KKPPEESTCF ERPCFKWYTS PWSECTKTCG VGVRMRDVKC YQGTDIVRGC DPLVKPVGRQ
   901  ACDLQPCPTE PPDDSCQDQP GTNCALAIKV NLCGHWYYSK ACCRSCRPPH S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ADAMTSL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.46

Highest tissue expression

71 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ADAMTSL2.

Disease | AllUniProt

Conditions ADAMTSL2 is implicated in, by any mechanism.

• Geleophysic dysplasia 1 (GPHYSD1) MIM:231050

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 347 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Geleophysic dysplasia 1
• Lethal short-limb skeletal dysplasia, Al Gazali type
• Abnormal facial shape
• ADAMTSL2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.74

gnomAD pLI

0

gnomAD missense Z

1.25

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• extracellular matrix organization
• negative regulation of transforming growth factor beta receptor signaling pathway
• lobar bronchus epithelium development

Molecular functions

• microfibril binding

Cellular components

• extracellular matrix
• extracellular region

Protein domainsUniProt · Pfam · InterPro

• Thrombospondin type-1 (TSP1) repeat
• ADAMTS/ADAMTS-like, Spacer 1
• PLAC
• ADAMTS/ADAMTS-like
• Thrombospondin type-1 repeat superfamily
• ADAMTS/ADAMTS-like, cysteine-rich domain 3
• ADAMTS and ADAMTS-like
• Thrombospondin type 1 domain
• ADAM-TS Spacer 1
• PLAC (protease and lacunin) domain
• Thrombospondin type 1 domain
• ADAMTS cysteine-rich domain

KeywordsUniProt

• Disulfide bond
• Dwarfism
• Glycoprotein
• Repeat
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of ADAMTSL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• LTBP1