SNTB2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSNTB2, D16S2531E, EST25263, SNT2B2, SNT3, SNTL, syntrophin beta 2
External IDsOMIM: 600027 MGI: 101771 HomoloGene: 4911 GeneCards: SNTB2
Orthologs
SpeciesHumanMouse
Entrez

6645

20650

Ensembl

ENSG00000168807
ENSG00000260873

ENSMUSG00000041308

UniProt

Q13425

Q61235

RefSeq (mRNA)

NM_130845
NM_006750

NM_009229
NM_001368316

RefSeq (protein)

NP_006741
NP_006741.1

NP_033255
NP_001355245

Location (UCSC)Chr 16: 69.19 – 69.31 MbChr 8: 107.66 – 107.75 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Beta-2-syntrophin is a protein that in humans is encoded by the SNTB2 gene.[5][6][7]

Function

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 this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally related genes.[7]

Interactions

SNTB2 has been shown to interact with ABCA1.[8]

References

  1. ^ a b c ENSG00000260873 GRCh38: Ensembl release 89: ENSG00000168807, ENSG00000260873 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041308 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM (March 1996). "The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives". J Biol Chem. 271 (5): 2724–30. doi:10.1074/jbc.271.5.2724. PMID 8576247.
  6. ^ Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM (June 1994). "Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24". Proc Natl Acad Sci U S A. 91 (10): 4446–50. Bibcode:1994PNAS...91.4446A. doi:10.1073/pnas.91.10.4446. PMC 43802. PMID 8183929.
  7. ^ a b "Entrez Gene: SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)".
  8. ^ Buechler C, Boettcher A, Bared SM, Probst MC, Schmitz G (May 2002). "The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex". Biochem. Biophys. Res. Commun. 293 (2): 759–65. doi:10.1016/S0006-291X(02)00303-0. PMID 12054535.

Further reading


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