• Gene id: 55362

Gene Summary

• Gene Symbol: TMEM63B   Gene   UCSC   Ensembl
• Aliases: C6orf110
• Gene name: transmembrane protein 63B
• Alternate names: CSC1-like protein 2,
• Gene location: 6p21.1 (44126627: 44155518)     Exons: 27     NC_000006.12

Protein Summary

• Protein general information: Q5T3F8  
  • Name: CSC1 like protein 2 (Transmembrane protein 63B)
  • Length: 832  
  • Mass: 94958
• Sequence:

  MLPFLLATLGTTALNNSNPKDYCYSARIRSTVLQGLPFGGVPTVLALDFMCFLALLFLFSILRKVAWDYGRLALV
  TDADRLRRQERDRVEQEYVASAMHGDSHDRYERLTSVSSSVDFDQRDNGFCSWLTAIFRIKDDEIRDKCGGDAVH
  YLSFQRHIIGLLVVVGVLSVGIVLPVNFSGDLLENNAYSFGRTTIANLKSGNNLLWLHTSFAFLYLLLTVYSMRR
  HTSKMRYKEDDLVKRTLFINGISKYAESEKIKKHFEEAYPNCTVLEARPCYNVARLMFLDAERKKAERGKLYFTN
  LQSKENVPTMINPKPCGHLCCCVVRGCEQVEAIEYYTKLEQKLKEDYKREKEKVNEKPLGMAFVTFHNETITAII
  LKDFNVCKCQGCTCRGEPRPSSCSESLHISNWTVSYAPDPQNIYWEHLSIRGFIWWLRCLVINVVLFILLFFLTT
  PAIIITTMDKFNVTKPVEYLNNPIITQFFPTLLLWCFSALLPTIVYYSAFFEAHWTRSGENRTTMHKCYTFLIFM
  VLLLPSLGLSSLDLFFRWLFDKKFLAEAAIRFECVFLPDNGAFFVNYVIASAFIGNAMDLLRIPGLLMYMIRLCL
  ARSAAERRNVKRHQAYEFQFGAAYAWMMCVFTVVMTYSITCPIIVPFGLMYMLLKHLVDRYNLYYAYLPAKLDKK
  IHSGAVNQVVAAPILCLFWLLFFSTMRTGFLAPTSMFTFVVLVITIVICLCHVCFGHFKYLSAHNYKIEHTETDT
  VDPRSNGRPPTAAAVPKSAKYIAQVLQDSEVDGDGDGAPGSSGDEPPSSSSQDEELLMPPDALTDTDFQSCEDSL
  IENEIHQ

• Structural information:
  • Interpro: IPR032880  IPR027815  IPR003864  
  • STRING: ENSP00000259746
• Other Databases: GeneCards:  TMEM63B  Malacards:  TMEM63B

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:0008381	mechanosensitive ion channel activity	ISS	molecular function
GO:0005227	calcium activated cation channel activity	ISS	molecular function
GO:1990760	osmolarity-sensing cation channel activity	ISS	molecular function
GO:1990760	osmolarity-sensing cation channel activity	ISS	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008381	mechanosensitive ion channel activity	IEA	molecular function
GO:0005227	calcium activated cation channel activity	IEA	molecular function
GO:1990760	osmolarity-sensing cation channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	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

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq