• Gene id: 147798

Gene Summary

• Gene Symbol: TMC4   Gene   UCSC   Ensembl
• Gene name: transmembrane channel like 4
• Alternate names: transmembrane channel-like protein 4, testicular tissue protein Li 204,
• Gene location: 19q13.42 (54173217: 54160094)     Exons: 15     NC_000019.10
• OMIM: 606614

Protein Summary

• Protein general information: Q7Z404  
  • Name: Transmembrane channel like protein 4
  • Length: 712  
  • Mass: 79208
• Sequence:

  MEENPTLESEAWGSSRGWLAPREARGAPCSSPGPSLSSVLNELPSAATLRYRDPGVLPWGALEEEEEDGGRSRKA
  FTEVTQTELQDPHPSRELPWPMQARRAHRQRNASRDQVVYGSGTKTDRWARLLRRSKEKTKEGLRSLQPWAWTLK
  RIGGQFGAGTESYFSLLRFLLLLNVLASVLMACMTLLPTWLGGAPPGPPGPDISSPCGSYNPHSQGLVTFATQLF
  NLLSGEGYLEWSPLFYGFYPPRPRLAVTYLCWAFAVGLICLLLILHRSVSGLKQTLLAESEALTSYSHRVFSAWD
  FGLCGDVHVRLRQRIILYELKVELEETVVRRQAAVRTLGQQARVWLVRVLLNLLVVALLGAAFYGVYWATGCTVE
  LQEMPLVQELPLLKLGVNYLPSIFIAGVNFVLPPVFKLIAPLEGYTRSRQIVFILLRTVFLRLASLVVLLFSLWN
  QITCGGDSEAEDCKTCGYNYKQLPCWETVLGQEMYKLLLFDLLTVLAVALLIQFPRKLLCGLCPGALGRLAGTQE
  FQVPDEVLGLIYAQTVVWVGSFFCPLLPLLNTVKFLLLFYLKKLTLFSTCSPAARTFRASAANFFFPLVLLLGLA
  ISSVPLLYSIFLIPPSKLCGPFRGQSSIWAQIPESISSLPETTQNFLFFLGTQAFAVPLLLISSILMAYTVALAN
  SYGRLISELKRQRQTEAQNKVFLARRAVALTSTKPAL

• Structural information:
  • Interpro: IPR038900  IPR012496  
  • STRING: ENSP00000477627
• Other Databases: GeneCards:  TMC4  Malacards:  TMC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008381	mechanosensitive ion channel activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	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:0016020	membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray