• Gene id: 147138

Gene Summary

• Gene Symbol: TMC8   Gene   UCSC   Ensembl
• Aliases: EV2, EVER2, EVIN2
• Gene name: transmembrane channel like 8
• Alternate names: transmembrane channel-like protein 8, epidermodysplasia verruciformis 2, epidermodysplasia verruciformis protein 2,
• Gene location: 17q25.3 (78129297: 78142967)     Exons: 17     NC_000017.11
• Gene summary(Entrez): Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in
• OMIM: 617740

Protein Summary

• Protein general information: Q8IU68  
  • Name: Transmembrane channel like protein 8 (Epidermodysplasia verruciformis protein 2)
  • Length: 726  
  • Mass: 81641
  • Tissue specificity: Expressed in placenta, prostate and testis. {ECO
• Sequence:

  MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQRWQRRRQTVER
  RLREAAQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLT
  LQCPGSRQSPPGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMV
  KGLPQKTLLGQGYQAPLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYL
  RVNVLNGLLVVGAISAIFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLI
  WCVVLKLASLGMFSVSLGQTILCIGRDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRR
  LLVDRFSGRFWAWLEREEFLVPKNVLDIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSRASSRPF
  RASSSTFFFQLVLLLGLLLAAVPLGYVVSSIHSSWDCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLGSHAFS
  FPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQVQEKWHLVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFC
  PGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRFPSGAEL

• Structural information:
  • Interpro: IPR038900  IPR012496  
  • STRING: ENSP00000325561
• Other Databases: GeneCards:  TMC8  Malacards:  TMC8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008381	mechanosensitive ion channel activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0055069	zinc ion homeostasis	IDA	biological process
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1902041	regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0001558	regulation of cell growth	IDA	biological process
GO:0031333	negative regulation of protein-containing complex assembly	IDA	biological process
GO:0032091	negative regulation of protein binding	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0140311	protein sequestering activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	HDA	cellular component
GO:0043120	tumor necrosis factor binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Epidermodysplasia verruciformis	KEGG:H00842
Epidermodysplasia verruciformis	KEGG:H00842
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Unexplained infertility	MIK: 25753583

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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray