ADAMTSL2 (ADAMTS like 2)

Gene

• Entrez ID: 9719
• Gene name: ADAMTS like 2
• Gene symbol: ADAMTSL2
• Synonyms: ADAMTSL-2, GPHYSD1
• Chromosome: 9
• Chromosome location: 9q34.2
• Summary: 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 doma

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113994121	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs113994122	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs113994123	G>A	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs113994124	G>A	Pathogenic	Coding sequence variant, missense variant
rs113994125	G>A	Pathogenic	Coding sequence variant, stop gained
rs387907064	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs387907065	C>T	Pathogenic	Missense variant, coding sequence variant
rs761886575	G>A	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs775621284	A>G	Pathogenic	Synonymous variant, coding sequence variant, missense variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT766849	hsa-miR-3612	CLIP-seq
MIRT766850	hsa-miR-4443	CLIP-seq
MIRT766851	hsa-miR-4459	CLIP-seq
MIRT766852	hsa-miR-4722-5p	CLIP-seq
MIRT766853	hsa-miR-4779	CLIP-seq
MIRT766854	hsa-miR-650	CLIP-seq
MIRT766855	hsa-miR-103a	CLIP-seq
MIRT766856	hsa-miR-107	CLIP-seq
MIRT766857	hsa-miR-1184	CLIP-seq
MIRT766858	hsa-miR-4323	CLIP-seq
MIRT766851	hsa-miR-4459	CLIP-seq
MIRT766853	hsa-miR-4779	CLIP-seq
MIRT766859	hsa-miR-665	CLIP-seq
MIRT1925900	hsa-miR-3150a-3p	CLIP-seq
MIRT1925901	hsa-miR-3175	CLIP-seq
MIRT1925902	hsa-miR-4300	CLIP-seq
MIRT1925903	hsa-miR-4481	CLIP-seq
MIRT1925904	hsa-miR-4492	CLIP-seq
MIRT1925905	hsa-miR-4498	CLIP-seq
MIRT1925906	hsa-miR-4505	CLIP-seq
MIRT1925907	hsa-miR-4667-5p	CLIP-seq
MIRT1925908	hsa-miR-4700-5p	CLIP-seq
MIRT1925909	hsa-miR-4731-5p	CLIP-seq
MIRT1925910	hsa-miR-4745-5p	CLIP-seq
MIRT1925911	hsa-miR-762	CLIP-seq
MIRT1925912	hsa-miR-920	CLIP-seq
MIRT1925913	hsa-miR-939	CLIP-seq
MIRT2443165	hsa-miR-1321	CLIP-seq
MIRT2443166	hsa-miR-3126-5p	CLIP-seq
MIRT2443167	hsa-miR-3921	CLIP-seq
MIRT2443168	hsa-miR-4419a	CLIP-seq
MIRT2443169	hsa-miR-4476	CLIP-seq
MIRT2443170	hsa-miR-4510	CLIP-seq
MIRT2443171	hsa-miR-4649-3p	CLIP-seq
MIRT2443172	hsa-miR-4653-5p	CLIP-seq
MIRT2443173	hsa-miR-4739	CLIP-seq
MIRT2443174	hsa-miR-4756-5p	CLIP-seq
MIRT2443175	hsa-miR-4757-5p	CLIP-seq
MIRT2443165	hsa-miR-1321	CLIP-seq
MIRT2443166	hsa-miR-3126-5p	CLIP-seq
MIRT2443167	hsa-miR-3921	CLIP-seq
MIRT2443168	hsa-miR-4419a	CLIP-seq
MIRT2443169	hsa-miR-4476	CLIP-seq
MIRT2443170	hsa-miR-4510	CLIP-seq
MIRT2443171	hsa-miR-4649-3p	CLIP-seq
MIRT2443172	hsa-miR-4653-5p	CLIP-seq
MIRT2443173	hsa-miR-4739	CLIP-seq
MIRT2443174	hsa-miR-4756-5p	CLIP-seq
MIRT2443175	hsa-miR-4757-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	18677313
GO:0006508	Process	Proteolysis	IEA
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IMP	18677313
GO:0031012	Component	Extracellular matrix	IBA	21873635

Other IDs

• MIM: 612277
• HGNC: 14631
• e!Ensembl: ENSG00000197859

Protein

• UniProt ID: Q86TH1
• Protein name: ADAMTS-like protein 2 (ADAMTSL-2)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00090	TSP_1	51 → 105	Thrombospondin type 1 domain	Domain
  PF05986	ADAM_spacer1	214 → 331	ADAM-TS Spacer 1	Family
  PF19030	TSP1_ADAMTS	626 → 685		Domain
  PF19030	TSP1_ADAMTS	741 → 794		Domain
  PF19030	TSP1_ADAMTS	798 → 854		Domain
  PF19030	TSP1_ADAMTS	857 → 907		Domain
  PF08686	PLAC	916 → 947	PLAC (protease and lacunin) domain	Domain

• Sequence:

  MDGRWQCSCWAWFLLVLAVVAGDTVSTGSTDNSPTSNSLEGGTDATAFWWGEWTKWTACS
  RSCGGGVTSQERHCLQQRRKSVPGPGNRTCTGTSKRYQLCRVQECPPDGRSFREEQCVSF
  NSHVYNGRTHQWKPLYPDDYVHISSKPCDLHCTTVDGQRQLMVPARDGTSCKLTDLRGVC
  VSGKCEPIGCDGVLFSTHTLDKCGICQGDGSSCTHVTGNYRKGNAHLGYSLVTHIPAGAR
  DIQIVERKKSADVLALADEAGYYFFNGNYKVDSPKNFNIAGTVVKYRRPMDVYETGIEYI
  VAQGPTNQGLNVMVWNQNGKSPSITFEYTLLQPPHESRPQPIYYGFSESAESQGLDGAGL
  MGFVPHNGSLYGQASSERLGLDNRLFGHPGLDMELGPSQGQETNEVCEQAGGGACEGPPR
  GKGFRDRNVTGTPLTGDKDDEEVDTHFASQEFFSANAISDQLLGAGSDLKDFTLNETVNS
  IFAQGAPRSSLAESFFVDYEENEGAGPYLLNGSYLELSSDRVANSSSEAPFPNVSTSLLT
  SAGNRTHKARTRPKARKQGVSPADMYRWKLSSHEPCSATCTTGVMSAYAMCVRYDGVEVD
  DSYCDALTRPEPVHEFCAGRECQPRWETSSWSECSRTCGEGYQFRVVRCWKMLSPGFDSS
  VYSDLCEAAEAVRPEERKTCRNPACGPQWEMSEWSECTAKCGERSVVTRDIRCSEDEKLC
  DPNTRPVGEKNCTGPPCDRQWTVSDWGPCSGSCGQGRTIRHVYCKTSDGRVVPESQCQME
  TKPLAIHPCGDKNCPAHWLAQDWERCNTTCGRGVKKRLVLCMELANGKPQTRSGPECGLA
  KKPPEESTCFERPCFKWYTSPWSECTKTCGVGVRMRDVKCYQGTDIVRGCDPLVKPVGRQ
  ACDLQPCPTEPPDDSCQDQPGTNCALAIKVNLCGHWYYSKACCRSCRPPHS

• Sequence length: 951

Pathways

Reactome:

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Acromicric dysplasia	Acromicric Dysplasia	rs387906622, rs387906623, rs387906624, rs1131692052, rs387906626, rs587776863, rs1064797059, rs363806, rs1060501041, rs1555400049	18677313
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Geleophysic dysplasia	GELEOPHYSIC DYSPLASIA 1, Geleophysic dysplasia	rs113994121, rs113994122, rs113994124, rs113994125, rs387906622, rs387906623, rs387906624, rs387906625, rs387907064, rs387907065, rs775621284, rs1131691804, rs1554971742, rs1188540819, rs1566902569, rs761886575	21415077, 18677313, 18677313
Melnick-needles syndrome	Melnick-Needles Syndrome	rs28935472, rs28935473	18677313
Multiple epiphyseal dysplasia	Multiple Epiphyseal Dysplasia	rs786200881, rs104893915, rs104893919, rs104893916, rs386833492, rs104893924, rs104893645, rs104893637, rs28939677, rs104893641, rs137852654, rs193922900, rs137852655, rs869320730, rs28936368, rs752248403, rs312262900, rs386833495, rs386833497, rs386833499, rs200963884, rs149551600, rs397515546, rs786204675, rs886039282, rs1057517523, rs1057517496, rs1057517462, rs1057517504, rs763198695, rs1057517483, rs1057517461, rs1057517524, rs1057517514, rs1057517526, rs1057517495, rs1057517532, rs1057517471, rs1057517502, rs1057517511, rs1057517482, rs1057517530, rs1057517474, rs762137330, rs1057517513, rs1014317450, rs1554095084, rs769859976, rs1554095145, rs1554095356, rs1554095374, rs1554095137, rs1554095156, rs745774620, rs1554095364, rs1481910744, rs1554095097, rs1554095125, rs1554095154, rs769657401, rs1554095381, rs1554095167, rs1554095266, rs1225601391, rs1554095296, rs1554095395, rs1235928535, rs1568554988, rs1561822760, rs1601054002, rs1601057167, rs1601054715, rs2055184939	18677313
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061	18677313
Schwartz-jampel syndrome	Schwartz-Jampel Syndrome	rs886039909, rs927473035, rs1572304438, rs1572356343	18677313
Spondyloenchondrodysplasia	Spondyloepiphyseal Dysplasia Tarda, X-Linked	rs121908616, rs267606734, rs121908617, rs121908618, rs1589509884, rs121908619, rs121908620, rs145538723, rs267606733, rs267606732, rs587776752, rs121912870, rs121912871, rs121912875, rs121912880, rs121912881, rs786200938, rs397514718, rs786200939, rs397514719, rs397514720, rs397514723, rs397514724, rs786200943, rs747171013, rs886039542, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703, rs769540174, rs1554022725, rs1555168505, rs1316347883, rs771866012, rs1553151294, rs1416783446, rs1565460853, rs771258750, rs1226321681, rs1294100541, rs1564532120, rs113683179, rs1597675888, rs1597675890, rs1202786652, rs377527583, rs1603225182, rs2085516391, rs934768094, rs2058757423, rs1589509307, rs771336246	18677313
Spondyloepiphyseal dysplasia	Spondyloepiphyseal Dysplasia	rs72555367, rs121908950, rs121908951, rs121908952, rs104893637, rs104893639, rs387906534, rs121913568, rs606231241, rs606231242, rs786200933, rs606231243, rs786200934, rs397515546, rs797045099, rs869312907, rs886041895, rs760093841, rs374379931, rs1471554906, rs1567185220, rs1567186585, rs1592198747, rs1239366051, rs1592197682	18677313

Unknown
Disease name	Disease term	dbSNP ID	References
Aortic valve sclerosis	Aortic Valve Stenosis
Cardiac valvular disease	Heart valve disease		18677313
Chondrodystrophic myotonia	Schwartz-Jampel Syndrome, Type 1		18677313
Congenital anomaly of the hand	Congenital Hand Deformities		18677313
Congenital pectus excavatum	Congenital pectus excavatum
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Dwarfism	Dwarfism
Dyschondroplasias	Dyschondroplasias		18677313
Flexion contracture of wrist	Flexion contracture - wrist
Inborn errors of metabolism	Inborn Errors of Metabolism		18677313
Macrostomia	Macrostomia
Mitral valve stenosis	Mitral Valve Stenosis
Osteopenia	Osteopenia
Tracheal stenosis	Tracheal Stenosis
Tricuspid valve stenosis	Tricuspid Valve Stenosis
Van buchem disease	Van Buchem disease		18677313