ADAMTSL2 (ADAMTS like 2)

Gene

• Entrez ID: 9719
• Gene name: ADAMTS like 2
• Gene symbol: ADAMTSL2
• Synonyms (NCBI Gene): 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
GO:0005515	Function	Protein binding	IPI	18677313
GO:0005576	Component	Extracellular region	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IMP	18677313
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0050436	Function	Microfibril binding	IEA
GO:0060481	Process	Lobar bronchus epithelium development	IEA

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal facial shape	Pathogenic	rs761886575	RCV002273828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ADAMTSL2-related disorder	Likely pathogenic	rs2538210433	RCV003400127	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Geleophysic dysplasia 1	Likely pathogenic; Pathogenic	rs2131192568, rs1166449446, rs113994122, rs113994121, rs113994124, rs113994125, rs2490935380, rs387907064, rs387907065, rs775621284, rs761886575, rs953298656	RCV001506980 RCV001509581 RCV003336435 RCV000000728 RCV000000729 RCV000000731 RCV000000732 RCV003225992 RCV000023933 RCV000023934 RCV000490976 RCV000762789 RCV001169884	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lethal short-limb skeletal dysplasia, Al Gazali type	Likely pathogenic	rs1166449446, rs113994122, rs2490935380, rs756311258, rs1408123846, rs2490903076, rs752050271, rs778178248	RCV003161042 RCV003162202 RCV003164473 RCV003164476 RCV003164478 RCV003164479 RCV003164480 RCV003164481	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HAND DEFORMITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTRACTURE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOSPARAXIS EHLERS-DANLOS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Geleophysic dysplasia	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromicric Dysplasia	Acromicric Dysplasia	CTD_human_DG	18677313		★☆☆☆☆ Found in Text Mining only
Acromicric dysplasia	Acromesomelic dysplasia	Pubtator	18677313, 21683322, 33082559, 33369194, 40368526	Associate	★☆☆☆☆ Found in Text Mining only
Acromicric Dysplasia	Acromicric Dysplasia	BEFREE	27068007		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40352186	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hand Deformities	Congenital anomaly of the hand	CTD_human_DG	18677313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	33369194	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	33904367	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	30303737		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschondroplasias	Dyschondroplasias	CTD_human_DG	18677313		★☆☆☆☆ Found in Text Mining only
Ectopia lentis isolated	Ectopia Lentis Isolated	BEFREE	21858451, 25957949		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	37037945	Associate	★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	21683322	Associate	★☆☆☆☆ Found in Text Mining only
Geleophysic dysplasia	Geleophysic Dysplasia	BEFREE	18677313, 19396027, 20862248, 21415077, 21858451, 23124041, 24014090, 24214363, 24251637, 27068007, 28158899, 28917829, 29191498, 30195254, 30303737, 30415012, 30738849, 31516831		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Geleophysic dysplasia	Geleophysic Dysplasia	CTD_human_DG	18677313		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Geleophysic dysplasia	Geleophysic Dysplasia	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Geleophysic dysplasia	Geleophysic Dysplasia	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GELEOPHYSIC DYSPLASIA 1	Geleophysic Dysplasia	CLINVAR_DG	18677313		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GELEOPHYSIC DYSPLASIA 1	Geleophysic Dysplasia	UNIPROT_DG	18677313, 21415077		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GELEOPHYSIC DYSPLASIA 1	Geleophysic Dysplasia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	CTD_human_DG	18677313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	CTD_human_DG	18677313		★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melnick-Needles Syndrome	Melnick-Needles Syndrome	CTD_human_DG	18677313		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	CTD_human_DG	18677313		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	24361742	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	CTD_human_DG	18677313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	33904367	Associate	★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	CTD_human_DG	18677313		★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	CTD_human_DG	18677313		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	CTD_human_DG	18677313		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloenchondrodysplasia	CTD_human_DG	18677313		★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Stenosis	Tricuspid Valve Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Van Buchem disease	Van Buchem Disease	CTD_human_DG	18677313		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	21858451		★☆☆☆☆ Found in Text Mining only