Gene Gene information from NCBI Gene database.
Entrez ID 23075
Gene name Switching B cell complex subunit SWAP70
Gene symbol SWAP70
Synonyms (NCBI Gene)
HSPC321SWAP-70
Chromosome 11
Chromosome location 11p15.4
miRNA miRNA information provided by mirtarbase database.
477
miRTarBase ID miRNA Experiments Reference
MIRT002694 hsa-miR-124-3p Microarray 15685193
MIRT006747 hsa-miR-145-5p Luciferase reporter assay 21360565
MIRT006747 hsa-miR-145-5p Luciferase reporter assay 21360565
MIRT006747 hsa-miR-145-5p Luciferase reporter assay 21360565
MIRT006747 hsa-miR-145-5p Luciferase reporter assay 21360565
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 24722188, 25416956, 32814053
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604762 17070 ENSG00000133789
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UH65
Protein name Switch-associated protein 70 (SWAP-70)
Protein function Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which, independently of RAS, transduces signals from tyrosine kinase receptors to RAC. It also mediates signaling of membrane ruffling. Regulates the act
PDB 2DN6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 211 306 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed only in mature B-cells including those associated with mucosa-associated tissue and bronchus-associated tissue (PubMed:10681448). Widely expressed. Abundant in spleen, and fairly abundant in kidney, lung and liver. Also found
Sequence
MGSLKEELLKAIWHAFTALDQDHSGKVSKSQLKVLSHNLCTVLKVPHDPVALEEHFRDDD
EGPVSNQGYMPYLNRFILEKVQDNFDKIEFNRMCWTLCVKKNLTKNPLLITEEDAFKIWV
IFNFLSEDKYPLIIVSEEIEYLLKKLTEAMGGGWQQEQFEHYKINFDDSKNGLSAWELIE
LIGNGQFSKGMDRQTVSMAINEVFNELILDVLKQGYMMKKGHRRKNWTERWFVLKPNIIS
YYVSEDLKDKKGDILLDENCCVESLPDKDGKKCLFLVKCFDKTFEISASDKKKKQEWIQA
IHSTIH
LLKLGSPPPHKEARQRRKELRKKQLAEQEELERQMKELQAANESKQQELEAVRK
KLEEAASRAAEEEKKRLQTQVELQARFSTELEREKLIRQQMEEQVAQKSSELEQYLQRVR
ELEDMYLKLQEALEDERQARQDEETVRKLQARLLEEESSKRAELEKWHLEQQQAIQTTEA
EKQELENQRVLKEQALQEAMEQLEQLELERKQALEQYEEVKKKLEMATNKTKSWKDKVAH
HEGLIRLIEPGSKNPHLITNWGPAAFTEAELEEREKNWKEKKTTE
Sequence length 585
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER 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
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 11726218
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 32723749 Associate
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 21360565
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Common Variable Immunodeficiency Common Variable Immunodeficiency BEFREE 11726218
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease GWASCAT_DG 26343387, 28714975, 29212778, 30104761
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Coronary artery disease Pubtator 40135555 Inhibit
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glioblastoma Glioblastoma BEFREE 31832018
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 31832018
★☆☆☆☆
Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 1 Hyper-IgM Immunodeficiency Syndrome BEFREE 11726218
★☆☆☆☆
Found in Text Mining only