• Gene id: 84899

Gene Summary

• Gene Symbol: TMTC4   Gene   UCSC   Ensembl
• Gene name: transmembrane O-mannosyltransferase targeting cadherins 4
• Alternate names: protein O-mannosyl-transferase TMTC4, transmembrane and TPR repeat-containing protein 4, transmembrane and tetratricopeptide repeat containing 4,
• Gene location: 13q32.3 (100675630: 100603624)     Exons: 24     NC_000013.11
• Gene summary(Entrez): This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular process
• OMIM: 618203

Protein Summary

• Protein general information: Q5T4D3  
  • Name: Protein O mannosyl transferase TMTC4 (EC 2.4.1.109) (Transmembrane and TPR repeat containing protein 4)
  • Length: 741  
  • Mass: 82991
• Sequence:

  MAVLDTDLDHILPSSVLPPFWAKLVVGSVAIVCFARSYDGDFVFDDSEAIVNNKDLQAETPLGDLWHHDFWGSRL
  SSNTSHKSYRPLTVLTFRINYYLSGGFHPVGFHVVNILLHSGISVLMVDVFSVLFGGLQYTSKGRRLHLAPRASL
  LAALLFAVHPVHTECVAGVVGRADLLCALFFLLSFLGYCKAFRESNKEGAHSSTFWVLLSIFLGAVAMLCKEQGI
  TVLGLNAVFDILVIGKFNVLEIVQKVLHKDKSLENLGMLRNGGLLFRMTLLTSGGAGMLYVRWRIMGTGPPAFTE
  VDNPASFADSMLVRAVNYNYYYSLNAWLLLCPWWLCFDWSMGCIPLIKSISDWRVIALAALWFCLIGLICQALCS
  EDGHKRRILTLGLGFLVIPFLPASNLFFRVGFVVAERVLYLPSVGYCVLLTFGFGALSKHTKKKKLIAAVVLGIL
  FINTLRCVLRSGEWRSEEQLFRSALSVCPLNAKVHYNIGKNLADKGNQTAAIRYYREAVRLNPKYVHAMNNLGNI
  LKERNELQEAEELLSLAVQIQPDFAAAWMNLGIVQNSLKRFEAAEQSYRTAIKHRRKYPDCYYNLGRLYADLNRH
  VDALNAWRNATVLKPEHSLAWNNMIILLDNTGNLAQAEAVGREALELIPNDHSLMFSLANVLGKSQKYKESEALF
  LKAIKANPNAASYHGNLAVLYHRWGHLDLAKKHYEISLQLDPTASGTKENYGLLRRKLELMQKKAV

• Structural information:
  • Interpro: IPR013618  IPR013026  IPR011990  IPR019734  
  • Prosite: PS50005 PS50293
  • STRING: ENSP00000343871
• Other Databases: GeneCards:  TMTC4  Malacards:  TMTC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000030	mannosyltransferase activity	IMP	molecular function
GO:0035269	protein O-linked mannosylation	IMP	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004169	dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0051117	ATPase binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006486	protein glycosylation	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