• Gene id: 9911

Gene Summary

• Gene Symbol: TMCC2   Gene   UCSC   Ensembl
• Aliases: HUCEP11
• Gene name: transmembrane and coiled-coil domain family 2
• Alternate names: transmembrane and coiled-coil domains protein 2, cerebral protein 11,
• Gene location: 1q32.1 (205227945: 205273342)     Exons: 11     NC_000001.11
• OMIM: 609878

Protein Summary

• Protein general information: O75069  
  • Name: Transmembrane and coiled coil domains protein 2 (Cerebral protein 11)
  • Length: 709  
  • Mass: 77449
• Sequence:

  MKRCRSDELQQQQGEEDGAGLEDAASHLPGADLRPGETTGANSAGGPTSDAGAAAAPNPGPRSKPPDLKKIQQLS
  EGSMFGHGLKHLFHSRRRSREREHQTSQDSQQHQQQQGMSDHDSPDEKERSPEMHRVSYAMSLHDLPARPTAFNR
  VLQQIRSRPSIKRGASLHSSSGGGSSGSSSRRTKSSSLEPQRGSPHLLRKAPQDSSLAAILHQHQCRPRSSSTTD
  TALLLADGSNVYLLAEEAEGIGDKVDKGDLVALSLPAGHGDTDGPISLDVPDGAPDPQRTKAAIDHLHQKILKIT
  EQIKIEQEARDDNVAEYLKLANNADKQQVSRIKQVFEKKNQKSAQTIAQLHKKLEHYRRRLKEIEQNGPSRQPKD
  VLRDMQQGLKDVGANVRAGISGFGGGVVEGVKGSLSGLSQATHTAVVSKPREFASLIRNKFGSADNIAHLKDPLE
  DGPPEEAARALSGSATLVSSPKYGSDDECSSASASSAGAGSNSGAGPGGALGSPKSNALYGAPGNLDALLEELRE
  IKEGQSHLEDSMEDLKTQLQRDYTYMTQCLQEERYRYERLEEQLNDLTELHQNEMTNLKQELASMEEKVAYQSYE
  RARDIQEAVESCLTRVTKLELQQQQQQVVQLEGVENANARALLGKFINVILALMAVLLVFVSTIANFITPLMKTR
  LRITSTTLLVLVLFLLWKHWDSLTYLLEHVLLPS

• Structural information:
  • Interpro: IPR019394  
  • STRING: ENSP00000350718
• Other Databases: GeneCards:  TMCC2  Malacards:  TMCC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042982	amyloid precursor protein metabolic process	IBA	biological process
GO:0012505	endomembrane system	IBA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0042982	amyloid precursor protein metabolic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

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

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