RBCC Red Blood Cell Collection

ACTN2_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: ACTN2
Protein names and data: ACTN2_HUMAN , Alpha-actinin-2 , Alpha-actinin skeletal muscle isoform 2; F-actin cross-linking protein Lenght: 894 a.a.
Mass: 103854 Da
fasta formatted sequence
Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
Disease: ( OMIM: 102573 612158 ) Cardiomyopathy, dilated 1AA (CMD1AA) [MIM:612158]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.
Tissue specificity: Expressed in both skeletal and cardiac muscle.

Genetic variants

9 - 9 Q -> R (in CMD1AA; dbSNP:rs121434525). VAR_054628 121434525
604 - 604 M -> V (in dbSNP:rs35997569). VAR_033487 35997569

Database cross-references

UniProt: P35609
Ensembl: ENST00000366578
MIM: 102573
MIM: 612158
neXtProt: NX_P35609
Antibodypedia: P35609 (may not find the protein thus also not any antibody)
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