ACTG_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:
ACTG1
, ACTB, ACTG
Protein names and data:
ACTG_HUMAN
, Actin, cytoplasmic 2
, Gamma-actin; Actin, cytoplasmic 2, N-terminally processed
Lenght: 375 a.a.
Mass: 41793 Da
fasta formatted sequence
Function:
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Disease:
( OMIM:
102560
604717
614583
)
Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry. Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm, cytoskeleton.
Genetic variants
89 - 89
T -> I (in DFNA20; dbSNP:rs28999111). VAR_032434
28999111
118 - 118
K -> M (in DFNA20). VAR_032435
118 - 118
K -> N (in DFNA20; dbSNP:rs267606630). VAR_067824
267606630
120 - 120
T -> I (in BRWS2; dbSNP:rs281875325). VAR_067814
281875325
122 - 122
I -> V (in DFNA20; dbSNP:rs281875330). VAR_067825
281875330
135 - 135
A -> V (in BRWS2; dbSNP:rs11549190). VAR_067815
11549190
155 - 155
S -> F (in BRWS2; dbSNP:rs281875326). VAR_067816
281875326
160 - 160
T -> I (in dbSNP:rs11549206). VAR_048186
11549206
203 - 203
T -> K (in BRWS2; dbSNP:rs281875327). VAR_067817
281875327
241 - 241
E -> K (in DFNA20; dbSNP:rs267606631). VAR_067826
267606631
243 - 243
P -> L (in dbSNP:rs11546899). VAR_055482
11546899
254 - 254
R -> W (in BRWS2; dbSNP:rs281875328). VAR_067818
281875328
256 - 256
R -> W (in BRWS2; dbSNP:rs281875329). VAR_067819
281875329
264 - 264
P -> L (in DFNA20). VAR_032436
278 - 278
T -> I (in DFNA20; dbSNP:rs28999112). VAR_032437
28999112
332 - 332
P -> A (in DFNA20). VAR_032438
370 - 370
V -> A (in DFNA20; restricts cell growth at elevated temperature or under hyperosmolar stress as measured in growth assays with yeast expressing the mutation). VAR_032439
Database cross-references
UniProt:
P63261
Ensembl:
ENST00000331925
Ensembl:
ENST00000573283
Ensembl:
ENST00000575087
Ensembl:
ENST00000575842
Ensembl:
ENST00000576544
Ensembl:
ENST00000593601
Ensembl:
ENST00000597869
Ensembl:
ENST00000598366
Ensembl:
ENST00000601143
Ensembl:
ENST00000601845
MIM:
102560
MIM:
604717
MIM:
614583
neXtProt:
NX_P63261
Antibodypedia:
P63261
(may not find the protein thus also not any antibody)
Local full text data:
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