• Gene id: 342527

Gene Summary

• Gene Symbol: SMTNL2   Gene   UCSC   Ensembl
• Gene name: smoothelin like 2
• Alternate names: smoothelin-like protein 2,
• Gene location: 17p13.2 (4584006: 4608318)     Exons: 10     NC_000017.11

Protein Summary

• Protein general information: Q2TAL5  
  • Name: Smoothelin like protein 2
  • Length: 461  
  • Mass: 50196
• Sequence:

  MEPAPDAQEARTVREALGRYEAALEGAVRALHEDMRGLQRGVERRVAEAMRLAGPLARTVADLQRDNQRLQAQLE
  RLTRQVEALGLASGMSPVPGTPGTPSPPPAPGVPDRAPRLGSARFASHATFSLSGRGQSLDHDEASESEMRKTSN
  SCIMENGHQPGAGPGDGPPEIAQNFSAPDPPRPRPVSLSLRLPHQPVTAITRVSDRFSGETSAAALSPMSAATLG
  GLNPSPSEVITPWTPSPSEKNSSFTWSVPSSGYGAVTASKHSNSPPLVTPPQSPVSPQPPAITQVHRQGERRREL
  VRSQTLPRTSEAQARKALFEKWEQETAAGKGKGEARARLKRSQSFGVASASSIKQILLEWCRSKTLGYQHVDLQN
  FSSSWSDGMAFCALVHSFFPDAFDYNSLSPTQRQKNFELAFTMAENLANCERLIEVEDMMVMGRKPDPMCVFTYV
  QSLYNHLRRFE

• Structural information:
  • Protein Domains: (351..45-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044"-)
  • Interpro: IPR001715  IPR036872  
  • Prosite: PS50021
  • CDD: cd00014
  • STRING: ENSP00000373964
• Other Databases: GeneCards:  SMTNL2  Malacards:  SMTNL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0005815	microtubule organizing center	IBA	cellular component
GO:0031941	filamentous actin	IBA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq