Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9719
Gene name	ADAMTS like 2
Gene symbol	ADAMTSL2
Synonyms (NCBI Gene)	ADAMTSL-2GPHYSD1
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

Show/Hide all (9)

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

Show/Hide all (49)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (12)

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

MIM	HGNC	e!Ensembl
612277	14631	ENSG00000197859

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

Interactions

View interactions

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

199

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Pathogenic	rs761886575	RCV002273828
ADAMTSL2-related disorder	Likely pathogenic	rs2538210433	RCV003400127
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
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

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Connective tissue dysplasia	Conflicting classifications of pathogenicity	rs752071055	RCV003448913
Familial cancer of breast	Benign	rs9802778	RCV005900509
Geleophysic dysplasia	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs113994123, rs886063641, rs67336169, rs886063639, rs539826426	RCV004700176 RCV000278461 RCV000345769 RCV000333656 RCV000271913
Hepatocellular carcinoma	Benign	rs11507717	RCV005905656

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acromicric dysplasia	Associate	18677313, 21683322, 33082559, 33369194, 40368526
Al Gazali Syndrome	Associate	36896612
Breast Neoplasms	Associate	40352186
Connective Tissue Diseases	Associate	33369194
Coronary Disease	Associate	33904367
Ehlers Danlos Syndrome	Associate	26879370, 33369194
Ehlers Danlos syndrome type 3	Associate	26879370
Ehlers Danlos Syndrome Type VII Autosomal Dominant	Associate	26879370
Fatty Liver	Associate	37037945
Gaucher Disease	Associate	21683322
Joint Instability	Associate	33369194, 35903967
Osteoarthritis	Associate	24361742
Pain	Associate	33369194
Raynaud Disease	Associate	33904367
Short limb dwarfism Al Gazali type	Associate	36896612

ADAMTSL2 (ADAMTS like 2)