Gene Gene information from NCBI Gene database.
Entrez ID 6645
Gene name Syntrophin beta 2
Gene symbol SNTB2
Synonyms (NCBI Gene)
D16S2531EEST25263SNT2B2SNT3SNTL
Chromosome 16
Chromosome location 16q22.1
Summary 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.
1629
miRTarBase ID miRNA Experiments Reference
MIRT020905 hsa-miR-155-5p Proteomics 18668040
MIRT023438 hsa-miR-30b-5p Sequencing 20371350
MIRT050332 hsa-miR-25-3p CLASH 23622248
MIRT047587 hsa-miR-10a-5p CLASH 23622248
MIRT047392 hsa-miR-34a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0003779 Function Actin binding IEA
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 8576247, 12763866, 16533813, 18468998, 19786618, 21115837, 25852190, 26617989, 27382054, 28514442, 32707033, 33961781, 35271311
GO:0005516 Function Calmodulin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600027 11169 ENSG00000168807
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13425
Protein name Beta-2-syntrophin (59 kDa dystrophin-associated protein A1 basic component 2) (Syntrophin-3) (SNT3) (Syntrophin-like) (SNTL)
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. May play a role in the regulation
PDB 2VRF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 115 195 PDZ domain Domain
PF18012 PH_17 239 297 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Isoform 1 is the predominant isoform. Weak level of isoform 2 is present in all tested tissues, except in liver and heart where it is highly expressed.
Sequence
MRVAAATAAAGAGPAMAVWTRATKAGLVELLLRERWVRVVAELSGESLSLTGDAAAAELE
PALGPAAAAFNGLPNGGGAGDSLPGSPSRGLGPPSPPAPPRGPAGEAGASPPVRRVRVVK
QEAGGLGISIKGGRENRMPILISKIFPGLAADQSRALRLGDAILSVNGTDLRQATHDQAV
QALKRAGKEVLLEVK
FIREVTPYIKKPSLVSDLPWEGAAPQSPSFSGSEDSGSPKHQNST
KDRKIIPLKMCFAARNLSMPDLENRLIELHSPDSRNTLILRCKDTATAHSWFVAIHT
NIM
ALLPQVLAELNAMLGATSTAGGSKEVKHIAWLAEQAKLDGGRQQWRPVLMAVTEKDLLLY
DCMPWTRDAWASPCHSYPLVATRLVHSGSGCRSPSLGSDLTFATRTGSRQGIEMHLFRVE
THRDLSSWTRILVQGCHAAAELIKEVSLGCMLNGQEVRLTIHYENGFTISRENGGSSSIL
YRYPFERLKMSADDGIRNLYLDFGGPEGELTMDLHSCPKPIVFVLHTFLSAKVTRMGLLV
Sequence length 540
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
OSTEOARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA 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
Arteriosclerosis Arteriosclerosis BEFREE 25333956
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 25333956
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 25333956 Associate
★☆☆☆☆
Found in Text Mining only
Intervertebral Disc Degeneration Intervertebral disc disease Pubtator 35039758 Associate
★☆☆☆☆
Found in Text Mining only
Metabolic Diseases Metabolic Diseases BEFREE 30990585
★☆☆☆☆
Found in Text Mining only