• Gene id: 57156

Gene Summary

• Gene Symbol: TMEM63C   Gene   UCSC   Ensembl
• Aliases: C14orf171, CSC1, hsCSC1
• Gene name: transmembrane protein 63C
• Alternate names: calcium permeable stress-gated cation channel 1, calcium permeable stress-gated cation channel 1 homolog,
• Gene location: 14q24.3 (77181797: 77259494)     Exons: 24     NC_000014.9
• OMIM: 0

Protein Summary

• Protein general information: Q9P1W3  
  • Name: Calcium permeable stress gated cation channel 1 (Transmembrane protein 63C)
  • Length: 806  
  • Mass: 93317
  • Tissue specificity: Expressed in podocytes of kidney glomeruli (PubMed
• Sequence:

  MSASPDDLSTGGRLQNMTVDECFQSRNTVLQGQPFGGVPTVLCLNIALWVLVLVVYSFLRKAAWDYGRLALLIHN
  DSLTSLIYGEQSEKTSPSETSLEMERRDKGFCSWFFNSITMKDEDLINKCGDDARIYIVFQYHLIIFVLIICIPS
  LGIILPINYTGSVLDWSSHFARTTIVNVSTESKLLWLHSLLSFFYFITNFMFMAHHCLGFAPRNSQKVTRTLMIT
  YVPKDIEDPELIIKHFHEAYPGSVVTRVHFCYDVRNLIDLDDQRRHAMRGRLFYTAKAKKTGKVMIRIHPCARLC
  FCKCWTCFKEVDAEQYYSELEEQLTDEFNAELNRVPLKRLDLIFVTFQDSRMAKRVRKDYKYVQCGVQPQQSSVT
  TIVKSYYWRVTMAPHPKDIIWKHLSVRRFFWWARFIAINTFLFFLFFFLTTPAIIMNTIDMYNVTRPIEKLQNPI
  VTQFFPSVMLWGFTVILPLIVYFSAFLEAHWTRSSQNLVMVHKCYIFLVFMVVILPSMGLTSLDVFLRWLFDIYY
  LEQASIRFQCVFLPDNGAFFVNYVITAALLGTGMELLRLGSLFCYSTRLFFSRSEPERVNIRKNQAIDFQFGREY
  AWMMNVFSVVMAYSITCPIIVPFGLLYLCMKHLTDRYNMYYSFAPTKLNEQIHMAAVSQAIFAPLLGLFWMLFFS
  ILRLGSLHAITIFSLSTLLIAMVIAFVGIFLGKLRMVADYEPEEEEIQTVFDMEPSSTSSTPTSLLYVATVLQEP
  ELNLTPASSPARHTYGTMNNQPEEGEEESGLRGFARELDSAQFQEGLELEGQNQYH

• Structural information:
  • Interpro: IPR032880  IPR027815  IPR003864  
  • STRING: ENSP00000298351
• Other Databases: GeneCards:  TMEM63C  Malacards:  TMEM63C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005227	calcium activated cation channel activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0006812	cation transport	IDA	biological process
GO:0005227	calcium activated cation channel activity	IDA	molecular function
GO:0003094	glomerular filtration	ISS	biological process
GO:1990760	osmolarity-sensing cation channel activity	ISS	molecular function
GO:0005886	plasma membrane	ISS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0003094	glomerular filtration	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:1990760	osmolarity-sensing cation channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq