| Type | Description |
|---|---|
| Definition | actin gamma 2, smooth muscle |
| Date | Results | Publications |
|---|---|---|
| 2020-02-08 10:52:00 | Studied Actin G2 gene variants in patients with Hirschsprung disease as a possible molecular basis for abnormal smooth muscle function. | 30885557 |
| 2019-11-09 11:16:00 | mutations represent a significant underlying cause of primary chronic intestinal pseudo-obstruction with visceral myopathy and associated phenotypes in Australasian patients. | 29781137 |
| 2018-10-27 10:05:00 | fetus with intestinal pseudo-obstruction heterozygous for p.R63G pathogenic variant (NM_001615.3 c.187C>G; rs864309491) in exon 3 | 29072330 |
| 2018-04-28 10:43:00 | Whole exome and Sanger sequencing revealed a pathogenic variant in the ACTG2 gene in 4 out of 28 probands with chronic intestinal pseudo-obstruction and megacystis. Moreover, a mutational hotspot in the ACTG2 gene was recognized. Genetic heterogeneity is evident. | 28422808 |
| 2017-12-30 12:09:00 | R257 variant in the ACTG2 appear to be more frequent in populations of Asian ancestry; mutation of this locus could cause alterations of the intestinal and bladder smooth muscle filaments. | 27007401 |
| Type | IDs |
|---|---|
| Synonymous | ACT, ACTA3, ACTE, ACTL3, ACTSG, VSCM |
| Gene |
UniProtKB-ID:
ACTH_HUMAN
UniprotKB:
P63267
UniParc:
UPI0000000CCB,
UPI00002086D4
EMBL:
D00654,
BC094877,
CH471053,
X16940,
BC012617,
CR541794,
AK312955,
AC073046,
CR536515,
AK304523
Ensembl:
ENSG00000163017
KO:
hsa:72
|
| Nucleutide sequences |
EMBL-CDS:
AAH94877.1,
CAG46593.1,
BAA00546.1,
CAG38753.1,
AAX88909.1,
BAG65327.1,
EAW99713.1,
CAA34814.1,
BAG35794.1,
AAH12617.1
Ensembl_TRS:
ENST00000409624,
ENST00000409731,
ENST00000345517
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000386929,
ENSP00000386857,
ENSP00000295137
RefSeq:
NP_001606.1,
NP_001186822.1
|
| Others |
UniRef100:
UniRef100_P63267
UniRef90:
UniRef90_P63267
UniRef50:
UniRef50_P63267
UniGene:
Hs.516105
CCDS:
CCDS56124.1,
CCDS1930.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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