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Gene Gene information from NCBI Gene database.
Entrez ID 339883
Gene name APRG1 tumor suppressor candidate
Gene symbol APRG1
Synonyms (NCBI Gene)
C3orf35
Chromosome 3
Chromosome location 3p22.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
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.
MIM HGNC e!Ensembl
611429 24082 ENSG00000198590
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IVJ8
Protein name APRG1 tumor suppressor candidate (AP20 region protein 1)
Family and domains
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed at high levels in the pancreas and placenta. {ECO:0000269|PubMed:12543795}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed at high levels in the kidney. {ECO:0000269|PubMed:12543795}.
Sequence
MKTMATRKRCKLSRTGPEFENVIKRLLCARTFHTRIGGDLTHGIINRGRRANAEQMGLQG
SAQHFNIFPLDLWTQGKKTEVQKREGTDSIPAAGRSGTANQPSIAPHRCLFSRGITALDG
LKRGRGCNGAAHLVRGDAWKTKLGEPWVSIALALAGPGAILILELSWFLG
Sequence length 170
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 Reference Evidence Score
APRG1-related disorder Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 16187228
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 16187228
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 19188145
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 12543795, 16187228, 20412120
★★★★★
★☆☆☆☆
Found in Text Mining only
Small cell carcinoma of lung Lung carcinoma BEFREE 12543795
★★★★★
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma Carcinoma BEFREE 23478628
★★★★★
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma of the head and neck Carcinoma Of The Head And Neck BEFREE 20412120
★★★★★
★☆☆☆☆
Found in Text Mining only