Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6641
Gene name Gene Name - the full gene name approved by the HGNC.
Syntrophin beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNTB1
Synonyms (NCBI Gene) Gene synonyms aliases
59-DAP, A1B, BSYN2, DAPA1B, SNT2, SNT2B1, TIP-43
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.12
Summary Summary of gene provided in NCBI Entrez Gene.
Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017689 hsa-miR-335-5p Microarray 18185580
MIRT030537 hsa-miR-24-3p Sequencing 20371350
MIRT467427 hsa-miR-199a-5p PAR-CLIP 21572407
MIRT467426 hsa-miR-199b-5p PAR-CLIP 21572407
MIRT467424 hsa-miR-5195-3p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 7844150, 8576247, 12477932, 16192269, 28514442
GO:0005516 Function Calmodulin binding IEA
GO:0005622 Component Intracellular anatomical structure IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600026 11168 ENSG00000172164
Protein
UniProt ID Q13884
Protein name Beta-1-syntrophin (59 kDa dystrophin-associated protein A1 basic component 1) (DAPA1B) (BSYN2) (Syntrophin-2) (Tax interaction protein 43) (TIP-43)
Protein function Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex.
PDB 7P70 , 7PC4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 113 192 PDZ domain Domain
PF18012 PH_17 237 295 PH domain Domain
PF00169 PH 323 433 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:8183929}.
Sequence
MAVAAAAAAAGPAGAGGGRAQRSGLLEVLVRDRWHKVLVNLSEDALVLSSEEGAAAYNGI
GTATNGSFCRGAGAGHPGAGGAQPPDSPAGVRTAFTDLPEQVPESISNQKRGVKVLKQEL
GGLGISIKGGKENKMPILISKIFKGLAADQTQALYVGDAILSVNGADLRDATHDEAVQAL
KRAGKEVLLEVK
YMREATPYVKKGSPVSEIGWETPPPESPRLGGSTSDPPSSQSFSFHRD
RKSIPLKMCYVTRSMALADPENRQLEIHSPDAKHTVILRSKDSATAQAWFSAIHS
NVNDL
LTRVIAEVREQLGKTGIAGSREIRHLGWLAEKVPGESKKQWKPALVVLTEKDLLIYDSMP
RRKEAWFSPVHTYPLLATRLVHSGPGKGSPQAGVDLSFATRTGTRQGIETHLFRAETSRD
LSHWTRSIVQGCH
NSAELIAEISTACTYKNQECRLTIHYENGFSITTEPQEGAFPKTIIQ
SPYEKLKMSSDDGIRMLYLDFGGKDGEIQLDLHSCPKPIVFIIHSFLSAKITRLGLVA
Sequence length 538
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Lip and oral cavity carcinoma Lip and Oral Cavity Carcinoma rs121913388, rs121912651, rs11540652, rs28934573, rs28934578, rs28933406, rs104894229, rs104894230, rs121913273, rs104894228, rs587778720, rs55832599, rs121913344, rs587782705, rs104894226
View all (9 more)
Myopia Myopia, Degenerative rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
23406873, 23933737
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Hypertension Hypertension GWAS
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Asthma Asthma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Lupus Nephritis Associate 24925725
Myopia Associate 28848321, 38287803
Psoriasis Associate 39344312
Thymoma Associate 34219124