SH3BP5 (SH3 domain binding protein 5)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 9467 |
| Gene name | SH3 domain binding protein 5 |
| Gene symbol | SH3BP5 |
| Synonyms (NCBI Gene) |
SABSH3BP-5
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| Chromosome | 3 |
| Chromosome location | 3p25.1 |
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miRNA
miRNA information provided by mirtarbase database.
511
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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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.
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O60239 | ||||||||||
| Protein name | SH3 domain-binding protein 5 (SH3BP-5) (SH3 domain-binding protein that preferentially associates with BTK) | ||||||||||
| Protein function | Functions as a guanine nucleotide exchange factor (GEF) with specificity for RAB11A and RAB25 (PubMed:26506309, PubMed:30217979). Inhibits the auto- and transphosphorylation activity of BTK. Plays a negative regulatory role in BTK-related cytopl | ||||||||||
| PDB | 4H3B , 6DJL , 6IXE , 6IXF , 6IXG , 6IXV | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in testis and ovaries. It is also expressed in a variety of tissues including spleen, lymph node, thymus, bone marrow, fetal liver, colon, small intestine and prostate. {ECO:0000269|PubMed:9571151}. | ||||||||||
| Sequence |
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| Sequence length | 455 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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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)
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