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Protein Page:
ADAMTSL2 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
ADAMTSL2 Defects in ADAMTSL2 are the cause of geleophysic dysplasia type 1 (GPHYSD1). An autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. Note: This description may include information from UniProtKB.
Protein type: Secreted; Secreted, signal peptide; Protease; Extracellular matrix
Cellular Component: proteinaceous extracellular matrix
Molecular Function: protein binding; zinc ion binding; metalloendopeptidase activity
Biological Process: negative regulation of transforming growth factor beta receptor signaling pathway; proteolysis
Reference #:  Q86TH1 (UniProtKB)
Alt. Names/Synonyms: ADAMTS-like 2; ADAMTS-like protein 2; ADAMTSL-2; ADAMTSL2; ATL2; FLJ45164; KIAA0605
Gene Symbols: ADAMTSL2
Molecular weight: 104,621 Da
Basal Isoelectric point: 6.02  Predict pI for various phosphorylation states
Select Structure to View Below

ADAMTSL2

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 T57-p WGEWTKWtACsRSCG
0 1 S60-p WTKWtACsRSCGGGV
0 1 T169-p MVPARDGtsCKLTDL
0 1 S170-p VPARDGtsCKLTDLR
0 1 S250-p QIVERKKsADVLALA
0 1 A465 ISDQLLGAGSDLKDF
0 1 S467 DQLLGAGSDLKDFTL
0 1 S586 TCTTGVMSAYAMCVR
0 1 Y594-p AYAMCVRyDGVEVDD
0 1 Y881-p RMRDVKCyQGTDIVR
0 1 K895-ac RGCDPLVkPVGRQAC
  mouse

 
T57 WGEWTKWTACSRSCG
S60 WTKWTACSRSCGGGV
T169 TVPARDGTSCKLTDL
S170 VPARDGTSCKLTDLR
S250 QIVERKKSADVLALA
T472-p ISDQLLGtGsESEEF
S474-p DQLLGtGsESEEFSL
S592-p TCTTGVMsTYAMCVR
Y600 TYAMCVRYDGVEVDD
Y887 RMRDVKCYQGTDIVR
K901 RGCDPLVKPVGRQAC
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