IZUMO2 (IZUMO family member 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 126123
Gene name IZUMO family member 2
Gene symbol IZUMO2
Synonyms (NCBI Gene)
C19orf41PLAL6978PRO21961SCRL
Chromosome 19
Chromosome location 19q13.33
miRNA miRNA information provided by mirtarbase database.
2
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miRTarBase ID miRNA Experiments Reference
MIRT019327 hsa-miR-148b-3p Microarray 17612493
MIRT047041 hsa-miR-183-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
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GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
618895 28518 ENSG00000161652
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UXV1
Protein name Izumo sperm-egg fusion protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15005 IZUMO 20 → 164 Izumo sperm-egg fusion, Ig domain-associated Family
Sequence
Sequence length 221
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
Acrosome Reaction and Sperm:Oocyte Membrane Binding
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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 Reference Evidence Score
Malignant tumor of esophagus Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar —
★★★★★
★★☆☆☆
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
Colorectal Neoplasms Colorectal neoplasm Pubtator 33203797 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for IZUMO2.

No additional diseases found yet through genes similar to IZUMO2.