Gene Gene information from NCBI Gene database.
Entrez ID 2086
Gene name Endogenous retrovirus group 3 member 1, envelope
Gene symbol ERV3-1
Synonyms (NCBI Gene)
ERV-RERV3ERVRHERV-RHERVRenvR
Chromosome 7
Chromosome location 7q11.21
Summary This gene contains sequence derived from endogenous retrovirus, and is therefore similar to multiple other loci in the genome. Transcripts at this locus encode a conserved protein with a predicted signal peptide and similarity to the Env polyprotein. This
miRNA miRNA information provided by mirtarbase database.
152
miRTarBase ID miRNA Experiments Reference
MIRT970049 hsa-miR-1207-5p CLIP-seq
MIRT970050 hsa-miR-1225-3p CLIP-seq
MIRT970051 hsa-miR-1233 CLIP-seq
MIRT970052 hsa-miR-1296 CLIP-seq
MIRT970053 hsa-miR-146a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0008150 Process Biological_process ND
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
131170 3454 ENSG00000213462
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14264
Protein name Endogenous retrovirus group 3 member 1 Env polyprotein (ERV-3 envelope protein) (ERV3 envelope protein) (ERV3-1 envelope protein) (Envelope polyprotein) (HERV-R envelope protein) (ERV-R envelope protein) (HERV-R_7q21.2 provirus ancestral Env polyprotein)
Protein function Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has los
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed at higher level in adrenal, sebaceous glands and placenta. Expressed at lower level in bone marrow, brain, breast, colon, heart, kidney, liver, lung, ovary, PBL, prostate, skin, spleen, testis, thymus, thyroid, trachea. {ECO:
Sequence
MLGMNMLLITLFLLLPLSMLKGEPWEGCLHCTHTTWSGNIMTKTLLYHTYYECAGTCLGT
CTHNQTTYSVCDPGRGQPYVCYDPKSSPGTWFEIHVGSKEGDLLNQTKVFPSGKDVVSLY
FDVCQIVSMGSLFPVIFSSMEYYSSCHKNRYAHPACSTDSPVTTCWDCTTWSTNQQSLGP
IMLTKIPLEPDCKTSTCNSVNLTILEPDQPIWTTGLKAPLGARVSGEEIGPGAYVYLYII
KKTRTRSTQQFRVFESFYEHVNQKLPEPPPLASNLFAQLAENIASSLHVASCYVCGGMNM
GDQWPWEARELMPQDNFTLTASSLEPAPSSQSIWFLKTSIIGKFCIARWGKAFTDPVGEL
TCLGQQYYNETLGKTLWRGKSNNSESPHPSPFSRFPSLNHSWYQLEAPNTWQAPSGLYWI
CGPQAYRQLPAKWSGACVLGTIRPSFFLMPLKQGEALGYPIYDETKRKSKRGITIGDWKD
NEWPPERIIQYYGPATWAEDGMWGYRTPVYMLNRIIRLQAVLEIITNETAGALNLLAQQA
TKMRNVIYQNRLALDYLLAQEEGVCGKFNLTNCCLELDDEGKVIKEITAKIQKLAHIPVQ
TWKG
Sequence length 604
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 9732235
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 9732235
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 7882554
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11410490
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 17013901
★☆☆☆☆
Found in Text Mining only
Choriocarcinoma Choriocarcinoma BEFREE 10692254, 2115127, 3346101, 3356751, 8592062, 8707424
★☆☆☆☆
Found in Text Mining only
Complete atrioventricular block Complete Atrioventricular Block BEFREE 9099920
★☆☆☆☆
Found in Text Mining only
Dermoid Cyst Dermoid Cyst BEFREE 8592062
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 23085571
★☆☆☆☆
Found in Text Mining only
Gestational trophoblastic disease Hydatidiform mole BEFREE 26992684
★☆☆☆☆
Found in Text Mining only