• Gene id: 339453

Gene Summary

• Gene Symbol: TMEM240   Gene   UCSC   Ensembl
• Aliases: C1orf70, SCA21
• Gene name: transmembrane protein 240
• Alternate names: transmembrane protein 240, transmembrane protein C1orf70,
• Gene location: 1p36.33 (1540623: 1534777)     Exons: 4     NC_000001.11
• Gene summary(Entrez): This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]

Protein Summary

• Protein general information: Q5SV17  
  • Name: Transmembrane protein 240
  • Length: 173  
  • Mass: 19908
• Sequence:

  MSMSANTMIFMILGASVVMAIACLMDMNALLDRFHNYILPHLRGEDRVCHCNCGRHHIHYVIPYDGDQSVVDASE
  NYFVTDSVTKQEIDLMLGLLLGFCISWFLVWMDGVLHCAVRAWRAGRRYDGSWTWLPKLCSLRELGRRPHRPFEE
  AAGNMVHVKQKLYHNGHPSPRHL

• Structural information:
  • Interpro: IPR027947  
  • STRING: ENSP00000368007
• Other Databases: GeneCards:  TMEM240  Malacards:  TMEM240

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097060	synaptic membrane	IBA	cellular component
GO:0097060	synaptic membrane	ISS	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0097060	synaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
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