• Gene id: 79905

Gene Summary

• Gene Symbol: TMC7   Gene   UCSC   Ensembl
• Gene name: transmembrane channel like 7
• Alternate names: transmembrane channel-like protein 7,
• Gene location: 16p12.3 (18983933: 19063941)     Exons: 30     NC_000016.10
• OMIM: 617198

Protein Summary

• Protein general information: Q7Z402  
  • Name: Transmembrane channel like protein 7
  • Length: 723  
  • Mass: 83502
• Sequence:

  MSESSGSALQPGRPSRQPAVHPENLSLDSSCFSSPPVNFLQELPSYRSIARRRTTVHSRDKQSGTLLKPTDSYSS
  QLEDRIAENLSSHSLRNYALNISEKRRLRDIQETQMKYLSEWDQWKRYSSKSWKRFLEKAREMTTHLELWREDIR
  SIEGKFGTGIQSYFSFLRFLVLLNLVIFLIIFMLVLLPVLLTKYKITNSSFVLIPFKDMDKQCTVYPVSSSGLIY
  FYSYIIDLLSGTGFLEETSLFYGHYTIDGVKFQNFTYDLPLAYLLSTIASLALSLLWIVKRSVEGFKINLIRSEE
  HFQSYCNKIFAGWDFCITNRSMADLKHSSLRYELRADLEEERMRQKIAERTSEETIRIYSLRLFLNCIVLAVLGA
  CFYAIYVATVFSQEHMKKEIDKMVFGENLFILYLPSIVITLANFITPMIFAKIIRYEDYSPGFEIRLTILRCVFM
  RLATICVLVFTLGSKITSCDDDTCDLCGYNQKLYPCWETQVGQEMYKLMIFDFIIILAVTLFVDFPRKLLVTYCS
  SCKLIQCWGQQEFAIPDNVLGIVYGQTICWIGAFFSPLLPAIATLKFIIIFYVKEWSLLYTCRPSPRPFRASNSN
  FFFLLVLLIGLCLAIIPLTISISRIPSSKACGPFTNFNTTWEVIPKTVSTFPSSLQSFIHGVTSEAFAVPFFMII
  CLIMFYFIALAGAHKRVVIQLREQLSLESRDKCYLIQKLTEAQRDMRN

• Structural information:
  • Interpro: IPR038900  IPR012496  
  • STRING: ENSP00000455041
• Other Databases: GeneCards:  TMC7  Malacards:  TMC7

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:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R