ACTN2
entrez
88
canonical
uniprot
P35609
canonical
ensembl
ENSG00000077522
resolver
ensp
ENSP00000355537
resolver
ensp
ENSP00000443495
resolver
genesymbol
ACTN2
resolver
hgnc
HGNC:164
resolver
uniprot
B1ANE4
resolver
uniprot
B2RCS5
resolver
uniprot
Q86TF4
resolver
uniprot
Q86TI8
resolver
uniprot_entry
ACTN2_HUMAN
resolver
uniprot_sec
B1ANE4
resolver
uniprot_sec
B2RCS5
resolver
uniprot_sec
Q86TF4
resolver
uniprot_sec
Q86TI8
resolver
amino_acid_sequence
MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRNGLKLMLLLEVISGERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNIQNFHTSWKDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDIPKMLDAEDIVNTPKPDERAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRTIPWLENRTPEKTMQAMQKKLEDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAFMPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLEHLAEKFRQKASTHETWAYGKEQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVNDRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQDMFIVHSIEEIQSLITAHEQFKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYSTVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRRQFAAQANAIGPWIQNKMEEIARSSIQITGALEDQMNQLKQYEHNIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHIRVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKNGLMDHEDFRACLISMGYDLGEAEFARIMTLVDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILASDKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALDYAAFSSALYGESDL
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:20022194, ECO:0000269|PubMed:25173926}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction (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. {ECO:0000269|PubMed:14567970, ECO:0000269|PubMed:25224718}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital myopathy 8 (CMYO8) [MIM:618654]: An autosomal dominant muscular disorder characterized by progressive early-onset muscle weakness, gait difficulties, loss of ambulation, and respiratory insufficiency. Morphological and ultrastructural analyses of muscle biopsies reveal type 1 fiber predominance, multiple structured cores forming a circular arrangement beneath the sarcolemma, and jagged Z-lines. {ECO:0000269|PubMed:30701273}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myopathy, distal, 6, adult onset, autosomal dominant (MPD6) [MIM:618655]: An autosomal dominant muscular disorder characterized by adult onset of asymmetric distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles. {ECO:0000269|PubMed:30900782}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in ACTN2 may be the cause of an autosomal recessive myopathy characterized by asymmetric, progressive muscle weakness predominantly affecting the lower extremities. Patients do not manifest cardiomyopathy or respiratory insufficiency. Muscle biopsy reveals disruption of the inter-myofibrillar architecture, type I fiber predominance and atrophy. {ECO:0000269|PubMed:38311799}.
uniprot
proteins
function
FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
uniprot
proteins
mass_dalton
103854
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by FBXL22, leading to proteasomal degradation. {ECO:0000269|PubMed:22972877}.
uniprot
proteins
protein_family
Alpha-actinin family
uniprot
proteins
pubmed
10427098
uniprot
proteins
pubmed
10481917
uniprot
proteins
pubmed
10548523
uniprot
proteins
pubmed
10984498
uniprot
proteins
pubmed
11114196
uniprot
proteins
pubmed
11171996
uniprot
proteins
pubmed
11470434
uniprot
proteins
pubmed
11573089
uniprot
proteins
pubmed
11842093
uniprot
proteins
pubmed
1339456
uniprot
proteins
pubmed
14567970
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15159419
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17046827
uniprot
proteins
pubmed
19932097
uniprot
proteins
pubmed
20022194
uniprot
proteins
pubmed
20554076
uniprot
proteins
pubmed
22972877
uniprot
proteins
pubmed
25173926
uniprot
proteins
pubmed
25224718
uniprot
proteins
pubmed
30701273
uniprot
proteins
pubmed
30900782
uniprot
proteins
pubmed
38311799
uniprot
proteins
sequence_length
894
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:11171996, ECO:0000269|PubMed:19932097, ECO:0000269|PubMed:30701273}. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.
uniprot
proteins