Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6641
Gene name	Syntrophin beta 1
Gene symbol	SNTB1
Synonyms (NCBI Gene)	59-DAPA1BBSYN2DAPA1BSNT2SNT2B1TIP-43
Chromosome	8
Chromosome location	8q24.12
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

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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
MIRT467425	hsa-miR-145-5p	PAR-CLIP	21572407
MIRT467423	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT467422	hsa-miR-8062	PAR-CLIP	21572407
MIRT467421	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT467420	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT467419	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT467418	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT467417	hsa-miR-3666	PAR-CLIP	21572407
MIRT467416	hsa-miR-4295	PAR-CLIP	21572407
MIRT467415	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT104944	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT467414	hsa-miR-1825	PAR-CLIP	21572407
MIRT467413	hsa-miR-3606-5p	PAR-CLIP	21572407
MIRT467412	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT467427	hsa-miR-199a-5p	PAR-CLIP	23592263
MIRT467426	hsa-miR-199b-5p	PAR-CLIP	23592263
MIRT467424	hsa-miR-5195-3p	PAR-CLIP	23592263
MIRT467425	hsa-miR-145-5p	PAR-CLIP	23592263
MIRT467423	hsa-miR-1277-5p	PAR-CLIP	23592263
MIRT467422	hsa-miR-8062	PAR-CLIP	23592263
MIRT467421	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT467420	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT467419	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT467418	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT467417	hsa-miR-3666	PAR-CLIP	23592263
MIRT467416	hsa-miR-4295	PAR-CLIP	23592263
MIRT467415	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT104944	hsa-miR-5011-5p	PAR-CLIP	23592263
MIRT467414	hsa-miR-1825	PAR-CLIP	23592263
MIRT467413	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT467412	hsa-miR-510-3p	PAR-CLIP	23592263
MIRT439573	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439573	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT467427	hsa-miR-199a-5p	PAR-CLIP	21572407
MIRT467426	hsa-miR-199b-5p	PAR-CLIP	21572407
MIRT467424	hsa-miR-5195-3p	PAR-CLIP	21572407
MIRT467425	hsa-miR-145-5p	PAR-CLIP	21572407
MIRT467423	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT467422	hsa-miR-8062	PAR-CLIP	21572407
MIRT467421	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT467420	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT467419	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT467418	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT467417	hsa-miR-3666	PAR-CLIP	21572407
MIRT467416	hsa-miR-4295	PAR-CLIP	21572407
MIRT467415	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT104944	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT467414	hsa-miR-1825	PAR-CLIP	21572407
MIRT467413	hsa-miR-3606-5p	PAR-CLIP	21572407
MIRT467412	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT467427	hsa-miR-199a-5p	PAR-CLIP	23592263
MIRT467426	hsa-miR-199b-5p	PAR-CLIP	23592263
MIRT467424	hsa-miR-5195-3p	PAR-CLIP	23592263
MIRT467425	hsa-miR-145-5p	PAR-CLIP	23592263
MIRT467423	hsa-miR-1277-5p	PAR-CLIP	23592263
MIRT467422	hsa-miR-8062	PAR-CLIP	23592263
MIRT467421	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT467420	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT467419	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT467418	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT467417	hsa-miR-3666	PAR-CLIP	23592263
MIRT467416	hsa-miR-4295	PAR-CLIP	23592263
MIRT467415	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT104944	hsa-miR-5011-5p	PAR-CLIP	23592263
MIRT467414	hsa-miR-1825	PAR-CLIP	23592263
MIRT467413	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT467412	hsa-miR-510-3p	PAR-CLIP	23592263
MIRT1376292	hsa-miR-1183	CLIP-seq
MIRT1376293	hsa-miR-3121-3p	CLIP-seq
MIRT1376294	hsa-miR-3130-3p	CLIP-seq
MIRT1376295	hsa-miR-3156-5p	CLIP-seq
MIRT1376296	hsa-miR-320a	CLIP-seq
MIRT1376297	hsa-miR-320b	CLIP-seq
MIRT1376298	hsa-miR-320c	CLIP-seq
MIRT1376299	hsa-miR-320d	CLIP-seq
MIRT1376300	hsa-miR-339-5p	CLIP-seq
MIRT1376301	hsa-miR-3591-5p	CLIP-seq
MIRT1376302	hsa-miR-3606	CLIP-seq
MIRT1376303	hsa-miR-3647-3p	CLIP-seq
MIRT1376304	hsa-miR-4291	CLIP-seq
MIRT1376305	hsa-miR-4310	CLIP-seq
MIRT1376306	hsa-miR-4421	CLIP-seq
MIRT1376307	hsa-miR-4429	CLIP-seq
MIRT1376308	hsa-miR-4431	CLIP-seq
MIRT1376309	hsa-miR-4668-3p	CLIP-seq
MIRT1376310	hsa-miR-4694-5p	CLIP-seq
MIRT1376311	hsa-miR-4793-3p	CLIP-seq
MIRT1376312	hsa-miR-495	CLIP-seq
MIRT1376313	hsa-miR-526b	CLIP-seq
MIRT1376314	hsa-miR-610	CLIP-seq
MIRT1376315	hsa-miR-921	CLIP-seq
MIRT1376316	hsa-miR-943	CLIP-seq
MIRT2111875	hsa-miR-3622a-5p	CLIP-seq
MIRT2111876	hsa-miR-4330	CLIP-seq
MIRT2111877	hsa-miR-4423-3p	CLIP-seq
MIRT2111878	hsa-miR-548n	CLIP-seq
MIRT2111879	hsa-miR-548t	CLIP-seq
MIRT2111880	hsa-miR-600	CLIP-seq
MIRT2111881	hsa-miR-634	CLIP-seq
MIRT2335179	hsa-miR-300	CLIP-seq
MIRT2335180	hsa-miR-323b-5p	CLIP-seq
MIRT2335181	hsa-miR-381	CLIP-seq
MIRT2111876	hsa-miR-4330	CLIP-seq
MIRT2335182	hsa-miR-485-3p	CLIP-seq
MIRT1376300	hsa-miR-339-5p	CLIP-seq
MIRT1376306	hsa-miR-4421	CLIP-seq
MIRT1376312	hsa-miR-495	CLIP-seq
MIRT2460147	hsa-miR-3591-3p	CLIP-seq
MIRT2460148	hsa-miR-4264	CLIP-seq
MIRT2460149	hsa-miR-4682	CLIP-seq
MIRT2460150	hsa-miR-4704-3p	CLIP-seq
MIRT2460151	hsa-miR-545	CLIP-seq
MIRT2460152	hsa-miR-548p	CLIP-seq
MIRT2460153	hsa-miR-654-3p	CLIP-seq
MIRT2460149	hsa-miR-4682	CLIP-seq
MIRT2460153	hsa-miR-654-3p	CLIP-seq
MIRT2335179	hsa-miR-300	CLIP-seq
MIRT1376303	hsa-miR-3647-3p	CLIP-seq
MIRT2335181	hsa-miR-381	CLIP-seq
MIRT2335179	hsa-miR-300	CLIP-seq
MIRT1376303	hsa-miR-3647-3p	CLIP-seq
MIRT2335181	hsa-miR-381	CLIP-seq

Show/Hide all (19)

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, 33961781, 35271311
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006936	Process	Muscle contraction	TAS	8183929
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IBA
GO:0016010	Component	Dystrophin-associated glycoprotein complex	TAS	8119949
GO:0016020	Component	Membrane	IEA
GO:0030165	Function	PDZ domain binding	IEA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0042383	Component	Sarcolemma	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
600026	11168	ENSG00000172164

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
KRAGKEVLLEVKYMREATPYVKKGSPVSEIGWETPPPESPRLGGSTSDPPSSQSFSFHRD
RKSIPLKMCYVTRSMALADPENRQLEIHSPDAKHTVILRSKDSATAQAWFSAIHSNVNDL
LTRVIAEVREQLGKTGIAGSREIRHLGWLAEKVPGESKKQWKPALVVLTEKDLLIYDSMP
RRKEAWFSPVHTYPLLATRLVHSGPGKGSPQAGVDLSFATRTGTRQGIETHLFRAETSRD
LSHWTRSIVQGCHNSAELIAEISTACTYKNQECRLTIHYENGFSITTEPQEGAFPKTIIQ
SPYEKLKMSSDDGIRMLYLDFGGKDGEIQLDLHSCPKPIVFIIHSFLSAKITRLGLVA

Sequence length

538

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy Viral myocarditis

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)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and oral cavity carcinoma	association	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute pancreatitis	Pancreatitis	BEFREE	30653956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28595731		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus nephritis	Pubtator	24925725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28595731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	14625404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	23406873, 23933737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	28848321, 38287803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	GWASCAT_DG	23406873, 23933737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	39344312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	23406873, 23933737, 28848321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	BEFREE	10797436		★★★★★ ★☆☆☆☆ Found in Text Mining only

SNTB1 (syntrophin beta 1)