• Gene id: 9719

Gene Summary

• Gene Symbol: ADAMTSL2   Gene   UCSC   Ensembl
• Aliases: ADAMTSL-2, GPHYSD1
• Gene name: ADAMTS like 2
• Alternate names: ADAMTS-like protein 2,
• Gene location: 9q34.2 (133532163: 133575518)     Exons: 20     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 610917

Protein Summary

• Protein general information: Q86TH1  
  • Name: ADAMTS like protein 2 (ADAMTSL 2)
  • Length: 951  
  • Mass: 104621
• Sequence:

  MDGRWQCSCWAWFLLVLAVVAGDTVSTGSTDNSPTSNSLEGGTDATAFWWGEWTKWTACSRSCGGGVTSQERHCL
  QQRRKSVPGPGNRTCTGTSKRYQLCRVQECPPDGRSFREEQCVSFNSHVYNGRTHQWKPLYPDDYVHISSKPCDL
  HCTTVDGQRQLMVPARDGTSCKLTDLRGVCVSGKCEPIGCDGVLFSTHTLDKCGICQGDGSSCTHVTGNYRKGNA
  HLGYSLVTHIPAGARDIQIVERKKSADVLALADEAGYYFFNGNYKVDSPKNFNIAGTVVKYRRPMDVYETGIEYI
  VAQGPTNQGLNVMVWNQNGKSPSITFEYTLLQPPHESRPQPIYYGFSESAESQGLDGAGLMGFVPHNGSLYGQAS
  SERLGLDNRLFGHPGLDMELGPSQGQETNEVCEQAGGGACEGPPRGKGFRDRNVTGTPLTGDKDDEEVDTHFASQ
  EFFSANAISDQLLGAGSDLKDFTLNETVNSIFAQGAPRSSLAESFFVDYEENEGAGPYLLNGSYLELSSDRVANS
  SSEAPFPNVSTSLLTSAGNRTHKARTRPKARKQGVSPADMYRWKLSSHEPCSATCTTGVMSAYAMCVRYDGVEVD
  DSYCDALTRPEPVHEFCAGRECQPRWETSSWSECSRTCGEGYQFRVVRCWKMLSPGFDSSVYSDLCEAAEAVRPE
  ERKTCRNPACGPQWEMSEWSECTAKCGERSVVTRDIRCSEDEKLCDPNTRPVGEKNCTGPPCDRQWTVSDWGPCS
  GSCGQGRTIRHVYCKTSDGRVVPESQCQMETKPLAIHPCGDKNCPAHWLAQDWERCNTTCGRGVKKRLVLCMELA
  NGKPQTRSGPECGLAKKPPEESTCFERPCFKWYTSPWSECTKTCGVGVRMRDVKCYQGTDIVRGCDPLVKPVGRQ
  ACDLQPCPTEPPDDSCQDQPGTNCALAIKVNLCGHWYYSKACCRSCRPPHS

• Structural information:
  • Protein Domains: (47..10-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (564..61-)
    2 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (622..68-)
    3 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-Pr-)
  • Interpro: IPR010294  IPR013273  IPR010909  IPR000884  IPR036383  
  • Prosite: PS50900 PS50092
  • STRING: ENSP00000346478
• Other Databases: GeneCards:  ADAMTSL2  Malacards:  ADAMTSL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0031012	extracellular matrix	IEA	cellular component
GO:0060481	lobar bronchus epithelium development	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0050436	microfibril binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process

Diseases

Associated diseases	References
Geleophysic dysplasia	KEGG:H00900
Geleophysic dysplasia	KEGG:H00900
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881