IZUMO1R (IZUMO1 receptor, JUNO)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 390243
Gene name IZUMO1 receptor, JUNO
Gene symbol IZUMO1R
Synonyms (NCBI Gene)
FOLR4FR-deltaFolbp3JUNO
Chromosome 11
Chromosome location 11q21
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IEA
GO:0005515 Function Protein binding IPI 24739963, 27309808, 27309818, 30517645
GO:0005542 Function Folic acid binding ISS
GO:0005576 Component Extracellular region TAS
GO:0005886 Component Plasma membrane IDA 30517645
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615737 32565 ENSG00000183560
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6ND01
Protein name Sperm-egg fusion protein Juno (Folate receptor 4) (Folate receptor delta) (FR-delta) (IZUMO1 receptor protein JUNO)
Protein function Receptor for IZUMO1 present at the cell surface of oocytes (oolemma), which is essential for species-specific gamete recognition and fertilization. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is r
PDB 5F4E , 5F4Q , 5JKA , 5JKB , 5JKC , 5JKD , 5JKE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03024 Folate_rec 26 → 208 Folate receptor family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in unfertilized oocytes (at protein level). {ECO:0000269|PubMed:30517645, ECO:0000269|PubMed:36070373}.
Sequence
Sequence length 250
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Post-translational modification: synthesis of GPI-anchored proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Gene Gene ontology Other IDs Protein Pathways 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 (7)
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
ASTROCYTOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHAGAS CARDIOMYOPATHY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Neoplasms Neoplasms BEFREE 23811319
★★★★★
★☆☆☆☆
Found in Text Mining only