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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9719
Gene name Gene Name - the full gene name approved by the HGNC.	ADAMTS like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ADAMTSL2
Synonyms (NCBI Gene) Gene synonyms aliases	ADAMTSL-2, GPHYSD1
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Interactions

View interactions

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Geleophysic Dysplasia	geleophysic dysplasia 1	rs761886575, rs113994121, rs113994122, rs113994124, rs113994125, rs387907064, rs387907065, rs775621284	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Carpal Tunnel Syndrome	Carpal tunnel syndrome	N/A	N/A	GWAS
Ehlers-Danlos Syndrome	Ehlers-Danlos syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)