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Protein-coding gene in the species Homo sapiens

SNTB2

SNTB2
All data from the card 18
Aliases
SNTB2, D16S2531E, EST25263, SNT2B2, SNT3, SNTL, syntrophin beta 2
External IDs
OMIM: 600027; MGI: 101771; GeneCards: SNTB2
PDB
Ortholog search: PDBe RCSB
Chr.
Chromosome 16 (human)
Band
16q22.1
End
69,309,052 bp
Chr.
Chromosome 8 (mouse)
Band
8 D3|8 53.38 cM
End
107,746,346 bp
BioGPS
n/a
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
6645
Ensembl
ENSG00000168807ENSG00000260873
UniProt
Q13425
RefSeq (mRNA)
NM_130845NM_006750
RefSeq (protein)
NP_006741NP_006741.1
Location (UCSC)
Chr 16: 69.19 – 69.31 Mb

Beta-2-syntrophin is a protein that in humans is encoded by the SNTB2 gene.

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.

Interactions

SNTB2 has been shown to interact with ABCA1.

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Text from Wikipedia, CC BY-SA 4.0 · Source article