• Gene id: 405754

Gene Summary

• Gene Symbol: ERVFRD-1   Gene   UCSC   Ensembl
• Aliases: ERVFRDE1, GLLL6191, HERV-FRD, HERV-W/FRD, UNQ6191, envFRD
• Gene name: endogenous retrovirus group FRD member 1, envelope
• Alternate names: syncytin-2, HERV-FRD provirus ancestral Env polyprotein, HERV-FRD_6p24.1 provirus ancestral Env polyprotein, endogenous retrovirus group FRD member 1, envelope polyprotein, syncytin 2,
• Gene location: 6p24.2 (11111724: 11102488)     Exons: 60     NC_000006.12
• Gene summary(Entrez): Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of a human endogenous retrovirus provirus on chromosome
• OMIM: 610524

Protein Summary

• Protein general information: P60508  
  • Name: Syncytin 2 (Endogenous retrovirus group FRD member 1) (Envelope polyprotein) (HERV FRD) (HERV FRD_6p24.1 provirus ancestral Env polyprotein) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]
  • Length: 538  
  • Mass: 59523
  • Tissue specificity: Expressed at higher level in placenta. Expressed at lower level in adrenal, bone marrow, brain, breast, colon, kidney, lung, ovary, peripheral blood lymphocytes, prostate, skin, spleen, testis, thymus, thyroid, trachea. {ECO
• Sequence:

  MGLLLLVLILTPSLAAYRHPDFPLLEKAQQLLQSTGSPYSTNCWLCTSSSTETPGTAYPASPREWTSIEAELHIS
  YRWDPNLKGLMRPANSLLSTVKQDFPDIRQKPPIFGPIFTNINLMGIAPICVMAKRKNGTNVGTLPSTVCNVTFT
  VDSNQQTYQTYTHNQFRHQPRFPKPPNITFPQGTLLDKSSRFCQGRPSSCSTRNFWFRPADYNQCLQISNLSSTA
  EWVLLDQTRNSLFWENKTKGANQSQTPCVQVLAGMTIATSYLGISAVSEFFGTSLTPLFHFHISTCLKTQGAFYI
  CGQSIHQCLPSNWTGTCTIGYVTPDIFIAPGNLSLPIPIYGNSPLPRVRRAIHFIPLLAGLGILAGTGTGIAGIT
  KASLTYSQLSKEIANNIDTMAKALTTMQEQIDSLAAVVLQNRRGLDMLTAAQGGICLALDEKCCFWVNQSGKVQD
  NIRQLLNQASSLRERATQGWLNWEGTWKWFSWVLPLTGPLVSLLLLLLFGPCLLNLITQFVSSRLQAIKLQTNLS
  AGRHPRNIQESPF

• Structural information:
  • Interpro: IPR018154  
  • PDB: 1Y4M 6RX3
  • PDBsum: 1Y4M 6RX3
  • STRING: ENSP00000420174
• Other Databases: GeneCards:  ERVFRD-1  Malacards:  ERVFRD-1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000768	syncytium formation by plasma membrane fusion	IBA	biological process
GO:0006949	syncytium formation	IDA	biological process
GO:0019012	virion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0019031	viral envelope	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007520	myoblast fusion	IMP	biological process
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: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:0005886	plasma membrane	IEA	cellular component
GO:0000768	syncytium formation by plasma membrane fusion	IDA	biological process

Diseases

Associated diseases	References
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881