• Gene id: 147007

Gene Summary

• Gene Symbol: TMEM199   Gene   UCSC   Ensembl
• Aliases: C17orf32, CDG2P, VMA12, VPH2
• Gene name: transmembrane protein 199
• Alternate names: transmembrane protein 199,
• Gene location: 17q11.2 (28357646: 28363682)     Exons: 6     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) in some human cells. The encoded protein shares some homology with the yeast protein
• OMIM: 616815

Protein Summary

• Protein general information: Q8N511  
  • Name: Transmembrane protein 199
  • Length: 208  
  • Mass: 23130
• Sequence:

  MASSLLAGERLVRALGPGGELEPERLPRKLRAELEAALGKKHKGGDSSSGPQRLVSFRLIRDLHQHLRERDSKLY
  LHELLEGSEIYLPEVVKPPRNPELVARLEKIKIQLANEEYKRITRNVTCQDTRHGGTLSDLGKQVRSLKALVITI
  FNFIVTVVAAFVCTYLGSQYIFTEMASRVLAALIVASVVGLAELYVMVRAMEGELGEL

• Structural information:
  • Interpro: IPR021013  
  • STRING: ENSP00000292114
• Other Databases: GeneCards:  TMEM199  Malacards:  TMEM199

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0012505	endomembrane system	IBA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IDA	cellular component
GO:0030663	COPI-coated vesicle membrane	IDA	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	IDA	cellular component
GO:0006879	cellular iron ion homeostasis	IMP	biological process
GO:0007042	lysosomal lumen acidification	IMP	biological process
GO:1905146	lysosomal protein catabolic process	IMP	biological process
GO:0036295	cellular response to increased oxygen levels	IMP	biological process
GO:0070072	vacuolar proton-transporting V-type ATPase complex assembly	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	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:0030663	COPI-coated vesicle membrane	IEA	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component

Diseases

Associated diseases	References
Congenital disorders of glycosylation type II	KEGG:H00119
Congenital disorders of glycosylation type II	KEGG:H00119
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)