ERVW-1 (endogenous retrovirus group W member 1, envelope)

Gene Gene information from NCBI Gene database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 30816
Gene name Endogenous retrovirus group W member 1, envelope
Gene symbol ERVW-1
Synonyms (NCBI Gene)
ENVENVWERVWE1HERV-7qHERV-W-ENVHERV7QHERVWHERVWENV
Chromosome 7
Chromosome location 7q21.2
Summary 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 an HERV provirus on chromosome 7 that has inactivati
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
Transcription factor Regulation Reference
GATA2 Activation 15888734
GATA3 Activation 15888734
GCM1 Activation 19692500;24478419
SP1 Activation 15888734
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0000768 Process Syncytium formation by plasma membrane fusion IBA
GO:0000768 Process Syncytium formation by plasma membrane fusion IDA 14557543
GO:0005886 Component Plasma membrane IEA
GO:0006949 Process Syncytium formation IDA 23492904
GO:0007520 Process Myoblast fusion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604659 13525 ENSG00000242950
Protein Protein information from UniProt database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UQF0
Protein name Syncytin-1 (Endogenous retrovirus group W member 1) (Env-W) (Envelope polyprotein gPr73) (Enverin) (HERV-7q Envelope protein) (HERV-W envelope protein) (HERV-W_7q21.2 provirus ancestral Env polyprotein) (Syncytin) [Cleaved into: Surface protein (SU) (gp50
Protein function This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. May induce fusion through binding of SLC1A4 and SLC
PDB 5HA6 , 6RX1 , 8OUH , 8OUJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00429 TLV_coat 56 → 477 ENV polyprotein (coat polyprotein) Family
Tissue specificity TISSUE SPECIFICITY: Expressed at higher level in placental syncytiotrophoblast. Expressed at intermediate level in testis. Seems also to be found at low level in adrenal tissue, bone marrow, breast, colon, kidney, ovary, prostate, skin, spleen, thymus, th
Sequence
Sequence length 538
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (89)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 10369674, 11850847
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 27576335
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 27393911
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 26230721
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24510538, 26041289
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 11485622, 1405724, 16883437, 21646298, 2677406, 2990032, 6091139, 8778566
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 10400745, 1849031
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 15542191
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 23212585
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 23212585
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations