• Gene id: 6645

Gene Summary

• Gene Symbol: SNTB2   Gene   UCSC   Ensembl
• Aliases: D16S2531E, EST25263, SNT2B2, SNT3, SNTL
• Gene name: syntrophin beta 2
• Alternate names: beta-2-syntrophin, 59 kDa dystrophin-associated protein A1 basic component 2, dystrophin-associated protein A1, 59kD, basic component 2, syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2), syntrophin-3,
• Gene location: 16q22.1 (69187146: 69309051)     Exons: 7     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 116845

Protein Summary

• Protein general information: Q13425  
  • Name: Beta 2 syntrophin (59 kDa dystrophin associated protein A1 basic component 2) (Syntrophin 3) (SNT3) (Syntrophin like) (SNTL)
  • Length: 540  
  • Mass: 57950
  • 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:

  MRVAAATAAAGAGPAMAVWTRATKAGLVELLLRERWVRVVAELSGESLSLTGDAAAAELEPALGPAAAAFNGLPN
  GGGAGDSLPGSPSRGLGPPSPPAPPRGPAGEAGASPPVRRVRVVKQEAGGLGISIKGGRENRMPILISKIFPGLA
  ADQSRALRLGDAILSVNGTDLRQATHDQAVQALKRAGKEVLLEVKFIREVTPYIKKPSLVSDLPWEGAAPQSPSF
  SGSEDSGSPKHQNSTKDRKIIPLKMCFAARNLSMPDLENRLIELHSPDSRNTLILRCKDTATAHSWFVAIHTNIM
  ALLPQVLAELNAMLGATSTAGGSKEVKHIAWLAEQAKLDGGRQQWRPVLMAVTEKDLLLYDCMPWTRDAWASPCH
  SYPLVATRLVHSGSGCRSPSLGSDLTFATRTGSRQGIEMHLFRVETHRDLSSWTRILVQGCHAAAELIKEVSLGC
  MLNGQEVRLTIHYENGFTISRENGGSSSILYRYPFERLKMSADDGIRNLYLDFGGPEGELTMDLHSCPKPIVFVL
  HTFLSAKVTRMGLLV

• Structural information:
  • Protein Domains: (115..19-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (163..30-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (325..43-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (-)
  • Interpro: IPR001478  IPR036034  IPR011993  IPR001849  IPR041428   IPR028550  IPR015482  
  • Prosite: PS50106 PS50003
  • CDD: cd01258
  • PDB: 2VRF
  • PDBsum: 2VRF
  • STRING: ENSP00000338191
• Other Databases: GeneCards:  SNTB2  Malacards:  SNTB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045202	synapse	IBA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	IBA	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030658	transport vesicle membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	IBA	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030658	transport vesicle membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881