CAP2
entrez
10486
canonical
uniprot
P40123
canonical
ensembl
ENSG00000112186
resolver
ensp
ENSP00000229922
resolver
ensp
ENSP00000368275
resolver
ensp
ENSP00000417705
resolver
ensp
ENSP00000527757
resolver
enst
ENST00000378990
resolver
enst
ENST00000489374
resolver
enst
ENST00000857698
resolver
genesymbol
CAP2
resolver
hgnc
HGNC:20039
resolver
uniprot
B2R5Y3
resolver
uniprot
B7Z1C4
resolver
uniprot
B7Z214
resolver
uniprot
B7Z385
resolver
uniprot
E9PDI2
resolver
uniprot
F6UF07
resolver
uniprot
Q6IAY2
resolver
uniprot_entry
B7Z385_HUMAN
resolver
uniprot_entry
CAP2_HUMAN
resolver
uniprot_entry
E9PDI2_HUMAN
resolver
uniprot_entry
F6UF07_HUMAN
resolver
uniprot_sec
B2R5Y3
resolver
uniprot_sec
B7Z1C4
resolver
uniprot_sec
B7Z214
resolver
uniprot_sec
Q6IAY2
resolver
amino_acid_sequence
MANMQGLVERLERAVSRLESLSAESHRPPGNCGEVNGVIAGVAPSVEAFDKLMDSMVAEFLKNSRILAGDVETHAEMVHSAFQAQRAFLLMASQYQQPHENDVAALLKPISEKIQEIQTFRERNRGSNMFNHLSAVSESIPALGWIAVSPKPGPYVKEMNDAATFYTNRVLKDYKHSDLRHVDWVKSYLNIWSELQAYIKEHHTTGLTWSKTGPVASTVSAFSVLSSGPGLPPPPPPLPPPGPPPLFENEGKKEESSPSRSALFAQLNQGEAITKGLRHVTDDQKTYKNPSLRAQGGQTQSPTKSHTPSPTSPKSYPSQKHAPVLELEGKKWRVEYQEDRNDLVISETELKQVAYIFKCEKSTIQIKGKVNSIIIDNCKKLGLVFDNVVGIVEVINSQDIQIQVMGRVPTISINKTEGCHIYLSEDALDCEIVSAKSSEMNILIPQDGDYREFPIPEQFKTAWDGSKLITEPAEIMA
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 2I (CMD2I) [MIM:620462]: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2I is an autosomal recessive, severe form characterized by onset in infancy or childhood. {ECO:0000269|PubMed:30518548, ECO:0000269|PubMed:33083013, ECO:0000269|PubMed:34862840}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the regulation of actin polymerization. {ECO:0000269|PubMed:30518548}.
uniprot
proteins
mass_dalton
52824
uniprot
proteins
protein_family
CAP family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30518548
uniprot
proteins
pubmed
33083013
uniprot
proteins
pubmed
34862840
uniprot
proteins
pubmed
7962207
uniprot
proteins
sequence_length
477
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
uniprot
proteins