Gene Gene information from NCBI Gene database.
Entrez ID 9679
Gene name Family with sequence similarity 53 member B
Gene symbol FAM53B
Synonyms (NCBI Gene)
KIAA0140bA12J10.2smp
Chromosome 10
Chromosome location 10q26.13
miRNA miRNA information provided by mirtarbase database.
420
miRTarBase ID miRNA Experiments Reference
MIRT039635 hsa-miR-615-3p CLASH 23622248
MIRT614181 hsa-miR-548c-3p HITS-CLIP 23824327
MIRT614180 hsa-miR-6515-3p HITS-CLIP 23824327
MIRT614179 hsa-miR-1236-3p HITS-CLIP 23824327
MIRT614178 hsa-miR-130b-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15778465, 28514442, 32296183, 33961781, 35271311
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 25183871
GO:0005634 Component Nucleus IEA
GO:0006606 Process Protein import into nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617289 28968 ENSG00000189319
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14153
Protein name Protein FAM53B (Protein simplet)
Protein function Acts as a regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) nuclear localization.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15242 FAM53 1 302 Family of FAM53 Family
Tissue specificity TISSUE SPECIFICITY: Detected in skeletal muscle, kidney, spleen, thyroid, testis, ovary, small intestine, colon and peripheral blood. {ECO:0000269|PubMed:8590280}.
Sequence
Sequence length 422
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA 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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21955603
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia GWASCAT_DG 28196072
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 1 Androgenetic Alopecia GWASCAT_DG 27182965, 29146897
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 2 Androgenetic Alopecia GWASCAT_DG 27182965, 29146897
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 3 Androgenetic Alopecia GWASCAT_DG 27182965, 29146897
★☆☆☆☆
Found in Text Mining only
Alopecia, Male Pattern Alopecia, Male Pattern GWASCAT_DG 27182965, 29146897
★☆☆☆☆
Found in Text Mining only
Androgenetic Alopecia Androgenetic Alopecia GWASCAT_DG 27182965, 29146897
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 31638250
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 28612156
★☆☆☆☆
Found in Text Mining only
Heart failure Heart Failure BEFREE 28612156
★☆☆☆☆
Found in Text Mining only