OOSP3 (oocyte secreted protein family member 3)

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Gene Gene information from NCBI Gene database.
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Entrez ID 112577461
Gene name Oocyte secreted protein family member 3
Gene symbol OOSP3
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11q12.1
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:0005576 Component Extracellular region 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
621112 53903 ENSG00000285231
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.
A0A2R8YFM6
Protein name Oocyte-secreted protein 3
Family and domains
Sequence 
MKDFVRLQSSFLLCTILTLSEQESVSVGCTSSMFWVVAEPTLLGQDHILHSDEASLGTGC
PVTNVTAKGYEFNYPATQCGIQKEVFSYVTVFYSALHCNIMHKGVTGKIPLMCIVYGSSL
DTTSSTIHNNLTEFQNDPPATNSYSPWNLTNASLFGLTRIPYFQNSSVEASHQSLLLNMS
HPLVHESANVAIF
Sequence length 193
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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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
DEFICIENCY ANEMIA — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MEGALOBLASTIC ANEMIA — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VITAMIN B DEFICIENCY — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Vitamin B12 deficiency — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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TCN1 5 shared diseasesMegaloblastic anemia, Deficiency anemia, Vitamin b deficiency, Vitamin b12 deficiency, Vitamin deficiency disorder 5 shared evidence sourcesGWAS catalog (Megaloblastic anemia), GWAS catalog (Deficiency anemia), GWAS catalog (Vitamin b deficiency), GWAS catalog (Vitamin b12 deficiency), GWAS catalog (Vitamin deficiency disorder) Related via 5 shared diseases including Megaloblastic anemia, Deficiency anemia — evidence mostly GWAS catalog. MMAA 4 shared diseasesMegaloblastic anemia, Deficiency anemia, Vitamin b deficiency, Vitamin b12 deficiency 4 shared evidence sourcesGWAS catalog (Megaloblastic anemia), GWAS catalog (Deficiency anemia), GWAS catalog (Vitamin b deficiency), GWAS catalog (Vitamin b12 deficiency) Related via 4 shared diseases including Megaloblastic anemia, Deficiency anemia — evidence mostly GWAS catalog. TCN2 5 shared diseasesMegaloblastic anemia, Deficiency anemia, Vitamin b deficiency, Vitamin b12 deficiency, Vitamin deficiency disorder 5 shared evidence sourcesGWAS catalog (Megaloblastic anemia), GWAS catalog (Deficiency anemia), GWAS catalog (Vitamin b deficiency), GWAS catalog (Vitamin b12 deficiency), GWAS catalog (Vitamin deficiency disorder) Related via 5 shared diseases including Megaloblastic anemia, Deficiency anemia — evidence mostly GWAS catalog. LRRC43 2 shared diseasesDeficiency anemia, Vitamin b12 deficiency 2 shared evidence sourcesGWAS catalog (Deficiency anemia), GWAS catalog (Vitamin b12 deficiency) Related via 2 shared diseases including Deficiency anemia, Vitamin b12 deficiency — evidence mostly GWAS catalog. CD320 3 shared diseasesDeficiency anemia, Vitamin b deficiency, Vitamin b12 deficiency 3 shared evidence sourcesGWAS catalog (Deficiency anemia), GWAS catalog (Vitamin b deficiency), GWAS catalog (Vitamin b12 deficiency) Related via 3 shared diseases including Deficiency anemia, Vitamin b deficiency — evidence mostly GWAS catalog.
Transcobalamin deficiency Linked via 2 of 5 related genesTCN1, TCN2 Methylmalonic acidemia Linked via 2 of 5 related genesMMAA, CD320 Diabetes mellitus type 2 Linked via 2 of 5 related genesTCN2, LRRC43 Cataract Linked via 1 of 5 related genesMMAA methylmalonic aciduria, cblA type Linked via 1 of 5 related genesMMAA