| Type | Description |
|---|---|
| Definition | actinin alpha 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-31 13:12:00 | Cardiac MLC2 kinase is localized to the Z-disc and interacts with alpha-actinin2. | 31467300 |
| 2020-06-27 10:18:00 | CTN2 (rs6655267) and MPPED2 (rs536007) are not associated with primary dentition caries. MPPED2 (rs11031093, G Allele) is marginally associated. | 32040219 |
| 2020-05-30 13:45:00 | A putative causal variant associated with heart failure, in a cardiac muscle specific regulatory region activated during cardiomyocyte differentiation, binds to actinin alpha 2 (ACTN2) gene enhancer. Genome-editing in human embryonic stem cell-derived cardiomyocytes confirms the influence of the identified regulatory region in the expression of ACTN2. | 32111823 |
| 2020-04-25 12:24:00 | our data demonstrate that specific mutations in the well-known Z-line regulator alpha-actinin-2 can cause a skeletal muscle disorder | 30701273 |
| 2020-04-04 10:56:00 | A unique missense mutation in ACTN2 was identified that is linked to a new genetically determined distal myopathy. | 30900782 |
| Type | IDs |
|---|---|
| Synonymous | CMD1AA, CMH23 |
| Gene |
UniProtKB-ID:
ACTN2_HUMAN,
Q59FD9_HUMAN,
F6THM6_HUMAN
UniprotKB:
P35609,
Q59FD9,
F6THM6
UniParc:
UPI0000125088,
UPI00002050CF,
UPI000153D566,
UPI00004F6D24
EMBL:
AJ249759,
AB209521,
M86804,
AJ249768,
AJ249770,
AJ249760,
M86406,
AJ249772,
AJ249773,
AL359921,
AJ249758,
AJ249775,
AJ249764,
AJ249765,
AJ249762,
AJ249757,
AJ249761,
AJ249767,
AJ249763,
BC051770,
AJ249774,
AJ249756,
AJ249771,
AJ249769,
AJ249766,
BC047901,
AL359185,
CH471098,
AK315250,
AJ249776
Ensembl:
ENSG00000077522
KO:
hsa:88
|
| Nucleutide sequences |
EMBL-CDS:
EAW70065.1,
AAA51583.1,
AAH47901.2,
EAW70064.1,
AAA51584.1,
BAG37672.1,
AAH51770.2,
CAB61269.1,
BAD92758.1
Ensembl_TRS:
ENST00000542672,
ENST00000366578,
ENST00000546208
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000443495,
ENSP00000355537,
ENSP00000438384
RefSeq:
NP_001265273.1,
NP_001265272.1,
NP_001094.1
|
| Others |
UniRef100:
UniRef100_F6THM6,
UniRef100_P35609,
UniRef100_Q59FD9
UniRef90:
UniRef90_P35609,
UniRef90_F6THM6
UniRef50:
UniRef50_P35609,
UniRef50_G1KBC2
UniGene:
Hs.498178
CCDS:
CCDS1613.1,
CCDS60455.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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