Gene Gene information from NCBI Gene database.
Entrez ID 9467
Gene name SH3 domain binding protein 5
Gene symbol SH3BP5
Synonyms (NCBI Gene)
SABSH3BP-5
Chromosome 3
Chromosome location 3p25.1
miRNA miRNA information provided by mirtarbase database.
511
miRTarBase ID miRNA Experiments Reference
MIRT020283 hsa-miR-130b-3p Sequencing 20371350
MIRT027201 hsa-miR-103a-3p Sequencing 20371350
MIRT041600 hsa-miR-193b-3p CLASH 23622248
MIRT699656 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT699655 hsa-miR-93-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0004860 Function Protein kinase inhibitor activity IBA
GO:0004860 Function Protein kinase inhibitor activity IDA 10339589
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 26506309, 30217979
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005515 Function Protein binding IPI 9571151, 30217979, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605612 10827 ENSG00000131370
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF05276 SH3BP5 39 269 SH3 domain-binding protein 5 (SH3BP5) Family
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
MDAALKRSRSEEPAEILPPARDEEEEEEEGMEQGLEEEEEVDPRIQGELEKLNQSTDDIN
RRETELEDARQKFRSVLVEATVKLDELVKKIGKAVEDSKPYWEARRVARQAQLEAQKATQ
DFQRATEVLRAAKETISLAEQRLLEDDKRQFDSAWQEMLNHATQRVMEAEQTKTRSELVH
KETAARYNAAMGRMRQLEKKLKRAINKSKPYFELKAKYYVQLEQLKKTVDDLQAKLTLAK
GEYKMALKNLEMISDEIHERRRSSAMGPR
GCGVGAEGSSTSVEDLPGSKPEPDAISVASE
AFEDDSCSNFVSEDDSETQSVSSFSSGPTSPSEMPDQFPAVVRPGSLDLPSPVSLSEFGM
MFPVLGPRSECSGASSPECEVERGDRAEGAENKTSDKANNNRGLSSSSGSGGSSKSQSST
SPEGQALENRMKQLSLQCSKGRDGIIADIKMVQIG
Sequence length 455
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
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA 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
Breast Neoplasms Breast neoplasm Pubtator 35229919 Associate
★☆☆☆☆
Found in Text Mining only
Cherubism Cherubism BEFREE 11381256
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 34327234 Associate
★☆☆☆☆
Found in Text Mining only
Diffuse Large B-Cell Lymphoma Diffuse Lymphoma BEFREE 27184832
★☆☆☆☆
Found in Text Mining only
Fibrosis, Liver Liver Fibrosis BEFREE 31709714
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia BEFREE 31546831
★☆☆☆☆
Found in Text Mining only
Miscarriage Miscarriage BEFREE 29307393
★☆☆☆☆
Found in Text Mining only
Mucopolysaccharidoses Mucopolysaccharidosis Pubtator 32886284 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 31625721
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Disorders Neurodegenerative Disorders BEFREE 28606781
★☆☆☆☆
Found in Text Mining only