• Gene id: 57458

Gene Summary

• Gene Symbol: TMCC3   Gene   UCSC   Ensembl
• Gene name: transmembrane and coiled-coil domain family 3
• Alternate names: transmembrane and coiled-coil domain protein 3, transmembrane and coiled-coil domains 3, transmembrane and coiled-coil domains protein 3,
• Gene location: 12q22 (94650556: 94567121)     Exons: 5     NC_000012.12
• OMIM: 617459

Protein Summary

• Protein general information: Q9ULS5  
  • Name: Transmembrane and coiled coil domain protein 3
  • Length: 477  
  • Mass: 53785
  • Tissue specificity: Widely expressed, with highest levels in brain, spinal cord and testis. {ECO
• Sequence:

  MPGSDTALTVDRTYSYPGRHHRCKSRVERHDMNTLSLPLNIRRGGSDTNLNFDVPDGILDFHKVKLTADSLKQKI
  LKVTEQIKIEQTSRDGNVAEYLKLVNNADKQQAGRIKQVFEKKNQKSAHSIAQLQKKLEQYHRKLREIEQNGASR
  SSKDISKDHLKDIHRSLKDAHVKSRTAPHCMESSKSGMPGVSLTPPVFVFNKSREFANLIRNKFGSADNIAHLKN
  SLEEFRPEASARAYGGSATIVNKPKYGSDDECSSGTSGSADSNGNQSFGAGGASTLDSQGKLAVILEELREIKDT
  QAQLAEDIEALKVQFKREYGFISQTLQEERYRYERLEDQLHDLTDLHQHETANLKQELASIEEKVAYQAYERSRD
  IQEALESCQTRISKLELHQQEQQALQTDTVNAKVLLGRCINVILAFMTVILVCVSTIAKFVSPMMKSRCHILGTF
  FAVTLLAIFCKNWDHILCAIERMIIPR

• Structural information:
  • Interpro: IPR019394  
  • STRING: ENSP00000261226
• Other Databases: GeneCards:  TMCC3  Malacards:  TMCC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0012505	endomembrane system	IBA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0071889	14-3-3 protein binding	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
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
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