Property Summary

NCBI Gene PubMed Count 10
PubMed Score 8.50
PubTator Score 10.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Gene RIF (4)

PMID Text
26879370 A novel mutation in ADAMTSL2 (p. Gly421Ser) gene was identified in individuals with Ehlers-Danlos Syndrome.
24014090 Two novel homozygous missense mutations in the ADAMTSL2 gene underlie geleophysic dysplasia in two consanguineous families from the United Arab Emirates.
21415077 Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
18677313 These data suggest that ADAMTSL2 mutations may lead to a dysregulation of TGF-beta signaling and may be the underlying mechanism of geleophysic dysplasia.

AA Sequence

MDGRWQCSCWAWFLLVLAVVAGDTVSTGSTDNSPTSNSLEGGTDATAFWWGEWTKWTACSRSCGGGVTSQ      1 - 70
ERHCLQQRRKSVPGPGNRTCTGTSKRYQLCRVQECPPDGRSFREEQCVSFNSHVYNGRTHQWKPLYPDDY     71 - 140
VHISSKPCDLHCTTVDGQRQLMVPARDGTSCKLTDLRGVCVSGKCEPIGCDGVLFSTHTLDKCGICQGDG    141 - 210
SSCTHVTGNYRKGNAHLGYSLVTHIPAGARDIQIVERKKSADVLALADEAGYYFFNGNYKVDSPKNFNIA    211 - 280
GTVVKYRRPMDVYETGIEYIVAQGPTNQGLNVMVWNQNGKSPSITFEYTLLQPPHESRPQPIYYGFSESA    281 - 350
ESQGLDGAGLMGFVPHNGSLYGQASSERLGLDNRLFGHPGLDMELGPSQGQETNEVCEQAGGGACEGPPR    351 - 420
GKGFRDRNVTGTPLTGDKDDEEVDTHFASQEFFSANAISDQLLGAGSDLKDFTLNETVNSIFAQGAPRSS    421 - 490
LAESFFVDYEENEGAGPYLLNGSYLELSSDRVANSSSEAPFPNVSTSLLTSAGNRTHKARTRPKARKQGV    491 - 560
SPADMYRWKLSSHEPCSATCTTGVMSAYAMCVRYDGVEVDDSYCDALTRPEPVHEFCAGRECQPRWETSS    561 - 630
WSECSRTCGEGYQFRVVRCWKMLSPGFDSSVYSDLCEAAEAVRPEERKTCRNPACGPQWEMSEWSECTAK    631 - 700
CGERSVVTRDIRCSEDEKLCDPNTRPVGEKNCTGPPCDRQWTVSDWGPCSGSCGQGRTIRHVYCKTSDGR    701 - 770
VVPESQCQMETKPLAIHPCGDKNCPAHWLAQDWERCNTTCGRGVKKRLVLCMELANGKPQTRSGPECGLA    771 - 840
KKPPEESTCFERPCFKWYTSPWSECTKTCGVGVRMRDVKCYQGTDIVRGCDPLVKPVGRQACDLQPCPTE    841 - 910
PPDDSCQDQPGTNCALAIKVNLCGHWYYSKACCRSCRPPHS                                 911 - 951
//

Text Mined References (11)

PMID Year Title
26879370 2016 Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.
24014090 2013 Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.
21415077 2011 Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
19139490 2009 A strategy for precise and large scale identification of core fucosylated glycoproteins.
18677313 2008 ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
17509843 2007 ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
14667842 2003 ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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