Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23075
Gene name Gene Name - the full gene name approved by the HGNC.
Switching B cell complex subunit SWAP70
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SWAP70
Synonyms (NCBI Gene) Gene synonyms aliases
HSPC321, SWAP-70
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.4
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604762 17070 ENSG00000133789
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Hypertension Hypertension, Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 32723749
Coronary Artery Disease Inhibit 40135555
Neoplasms Associate 38157275