Seroatlas · Human Serome Atlas

ERVFRD-1

Syncytin-2

Also known as: envFRD, ERVFRDE1, HERV-FRD, HERV-W/FRD, SYCY2_HUMAN, syncytin-2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P60508
Gene: ERVFRD-1
Ensembl: ENSG00000244476
Chromosome: 6
Canonical length: 538 aa
Protein class: Predicted membrane proteins, Transporters
Subcellular location: Nucleoplasm,Plasma membrane,Actin filaments,Cytosol

OverviewNCBI Gene

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 6 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012]

Canonical amino-acid sequenceUniProt

538 residues, UniProt reviewed canonical sequence.

>P60508|ERVFRD-1
     1  MGLLLLVLIL TPSLAAYRHP DFPLLEKAQQ LLQSTGSPYS TNCWLCTSSS TETPGTAYPA
    61  SPREWTSIEA ELHISYRWDP NLKGLMRPAN SLLSTVKQDF PDIRQKPPIF GPIFTNINLM
   121  GIAPICVMAK RKNGTNVGTL PSTVCNVTFT VDSNQQTYQT YTHNQFRHQP RFPKPPNITF
   181  PQGTLLDKSS RFCQGRPSSC STRNFWFRPA DYNQCLQISN LSSTAEWVLL DQTRNSLFWE
   241  NKTKGANQSQ TPCVQVLAGM TIATSYLGIS AVSEFFGTSL TPLFHFHIST CLKTQGAFYI
   301  CGQSIHQCLP SNWTGTCTIG YVTPDIFIAP GNLSLPIPIY GNSPLPRVRR AIHFIPLLAG
   361  LGILAGTGTG IAGITKASLT YSQLSKEIAN NIDTMAKALT TMQEQIDSLA AVVLQNRRGL
   421  DMLTAAQGGI CLALDEKCCF WVNQSGKVQD NIRQLLNQAS SLRERATQGW LNWEGTWKWF
   481  SWVLPLTGPL VSLLLLLLFG PCLLNLITQF VSSRLQAIKL QTNLSAGRHP RNIQESPF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERVFRD-1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.38
Highest tissue expression: 35 nTPM

Expression across tissuesHPA

Tissue

placenta: 35 nTPM
parathyroid gland: 7 nTPM
epididymis: 0.9 nTPM
lung: 0.6 nTPM
kidney: 0.5 nTPM
skin: 0.5 nTPM

Single-cell type

syncytiotrophoblasts: 906 nCPM
epicardial cells: 30 nCPM
mast cells: 22 nCPM
retinal horizontal cells: 10 nCPM
cardiomyocytes: 5 nCPM
rod photoreceptor cells: 3 nCPM

Immune cell

NK-cell: 0.3 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

cerebellum: 8.1 nTPM
hypothalamus: 5.8 nTPM
thalamus: 5.8 nTPM
amygdala: 5.6 nTPM
basal ganglia: 5.5 nTPM
cerebral cortex: 5.5 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.36
gnomAD pLI: 0.03
gnomAD missense Z: 1.08
DepMap mean gene effect: 0.12
DepMap dependency class: none

OntologyGO

Biological processes

Cellular components

plasma membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ERVFRD-1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

MFSD2A

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ERVFRD-1 as an antibody target. Whether an autoantibody or antibody against ERVFRD-1 could matter depends on whether native ERVFRD-1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ERVFRD-1 is annotated at the cell surface, where native ERVFRD-1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ERVFRD-1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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