• Gene id: 160335

Gene Summary

• Gene Symbol: TMTC2   Gene   UCSC   Ensembl
• Aliases: IBDBP1
• Gene name: transmembrane O-mannosyltransferase targeting cadherins 2
• Alternate names: protein O-mannosyl-transferase TMTC2, transmembrane and TPR repeat-containing protein 2, transmembrane and tetratricopeptide repeat containing 2,
• Gene location: 12q21.31 (55566683: 55567686)     Exons: 1     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein bin
• OMIM: 615856

Protein Summary

• Protein general information: Q8N394  
  • Name: Protein O mannosyl transferase TMTC2 (EC 2.4.1.109) (Transmembrane and TPR repeat containing protein 2)
  • Length: 836  
  • Mass: 94130
• Sequence:

  MIAELVSSALGLALYLNTLSADFCYDDSRAIKTNQDLLPETPWTHIFYNDFWGTLLTHSGSHKSYRPLCTLSFRL
  NHAIGGLNPWSYHLVNVLLHAAVTGLFTSFSKILLGDGYWTFMAGLMFASHPIHTEAVAGIVGRADVGASLFFLL
  SLLCYIKHCSTRGYSARTWGWFLGSGLCAGCSMLWKEQGVTVLAVSAVYDVFVFHRLKIKQILPTIYKRKNLSLF
  LSISLLIFWGSSLLGARLYWMGNKPPSFSNSDNPAADSDSLLTRTLTFFYLPTKNLWLLLCPDTLSFDWSMDAVP
  LLKTVCDWRNLHTVAFYTGLLLLAYYGLKSPSVDRECNGKTVTNGKQNANGHSCLSDVEYQNSETKSSFASKVEN
  GIKNDVSQRTQLPSTENIVVLSLSLLIIPFVPATNLFFYVGFVIAERVLYIPSMGFCLLITVGARALYVKVQKRF
  LKSLIFYATATLIVFYGLKTAIRNGDWQNEEMLYRSGIKVNPAKAWGNLGNVLKSQSKISEAESAYRNALYYRSN
  MADMLYNLGLLLQENSRFAEALHYYKLAIGSRPTLASAYLNTGIILMNQGRTEEARRTFLKCSEIPDENLKDPHA
  HKSSVTSCLYNLGKLYHEQGHYEEALSVYKEAIQKMPRQFAPQSLYNMMGEAYMRLSKLPEAEHWYMESLRSKTD
  HIPAHLTYGKLLALTGRKSEAEKLFLKAIELDPTKGNCYMHYGQFLLEEARLIEAAEMAKKAAELDSTEFDVVFN
  AAHMLRQASLNEAAEKYYDLAARLRPNYPAALMNLGAILHLNGRLQKAEANYLRALQLKPDDVITQSNLRKLWNI
  MEKQGLKTSKT

• Structural information:
  • Interpro: IPR013618  IPR013026  IPR011990  IPR001440  IPR019734  
  • Prosite: PS50005 PS50293
  • STRING: ENSP00000322300
• Other Databases: GeneCards:  TMTC2  Malacards:  TMTC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0055074	calcium ion homeostasis	IMP	biological process
GO:0000030	mannosyltransferase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004169	dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq