• Gene id: 55654

Gene Summary

• Gene Symbol: TMEM127   Gene   UCSC   Ensembl
• Gene name: transmembrane protein 127
• Alternate names: transmembrane protein 127,
• Gene location: 2q11.2 (96265996: 96248513)     Exons: 7     NC_000002.12
• Gene summary(Entrez): This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate i
• OMIM: 613403

Protein Summary

• Protein general information: O75204  
  • Name: Transmembrane protein 127
  • Length: 238  
  • Mass: 25842
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MYAPGGAGLPGGRRRRSPGGSALPKQPERSLASALPGALSITALCTALAEPAWLHIHGGTCSRQELGVSDVLGYV
  HPDLLKDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGPKHPALKITRRYAFAHILTVLQCATVIGFSYWA
  SELILAQQQQHKKYHGSQVYVTFAVSFYLVAGAGGASILATAANLLRHYPTEEEEQALELLSEMEENEPYPAEYE
  VINQFQPPPAYTP

• Structural information:
  • Interpro: IPR033331  
  • STRING: ENSP00000258439
• Other Databases: GeneCards:  TMEM127  Malacards:  TMEM127

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032006	regulation of TOR signaling	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0032007	negative regulation of TOR signaling	IMP	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0032007	negative regulation of TOR signaling	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0017137	Rab GTPase binding	IDA	molecular function
GO:0005769	early endosome	IDA	cellular component
GO:0007032	endosome organization	IEA	biological process
GO:0032006	regulation of TOR signaling	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Malignant paraganglioma	KEGG:H01510
Malignant paraganglioma	KEGG:H01510
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881