LIMS2
entrez
55679
canonical
uniprot
Q7Z4I7
canonical
ensembl
ENSG00000072163
resolver
ensp
ENSP00000326888
resolver
ensp
ENSP00000347240
resolver
ensp
ENSP00000386252
resolver
ensp
ENSP00000386570
resolver
ensp
ENSP00000386637
resolver
ensp
ENSP00000387002
resolver
ensp
ENSP00000443794
resolver
ensp
ENSP00000525803
resolver
ensp
ENSP00000652434
resolver
ensp
ENSP00000652435
resolver
ensp
ENSP00000683371
resolver
ensp
ENSP00000793850
resolver
genesymbol
LIMS2
resolver
genesymbol_syn
PINCH2
resolver
hgnc
HGNC:16084
resolver
uniprot
A6NLH0
resolver
uniprot
B3KNZ3
resolver
uniprot
B4DMV1
resolver
uniprot
F5H6E6
resolver
uniprot
Q7Z4I2
resolver
uniprot
Q7Z4I6
resolver
uniprot
Q7Z4I8
resolver
uniprot
Q8NFE7
resolver
uniprot
Q9HA13
resolver
uniprot_entry
B3KNZ3_HUMAN
resolver
uniprot_entry
LIMS2_HUMAN
resolver
uniprot_sec
A6NLH0
resolver
uniprot_sec
B4DMV1
resolver
uniprot_sec
F5H6E6
resolver
uniprot_sec
Q7Z4I2
resolver
uniprot_sec
Q7Z4I6
resolver
uniprot_sec
Q7Z4I8
resolver
uniprot_sec
Q8NFE7
resolver
uniprot_sec
Q9HA13
resolver
amino_acid_sequence
MTGSNMSDALANAVCQRCQARFSPAERIVNSNGELYHEHCFVCAQCFRPFPEGLFYEFEGRKYCEHDFQMLFAPCCGSCGEFIIGRVIKAMNNNWHPGCFRCELCDVELADLGFVKNAGRHLCRPCHNREKAKGLGKYICQRCHLVIDEQPLMFRSDAYHPDHFNCTHCGKELTAEARELKGELYCLPCHDKMGVPICGACRRPIEGRVVNALGKQWHVEHFVCAKCEKPFLGHRHYEKKGLAYCETHYNQLFGDVCYNCSHVIEGDVVSALNKAWCVSCFSCSTCNSKLTLKNKFVEFDMKPVCKRCYEKFPLELKKRLKKLSELTSRKAQPKATDLNSA
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT) [MIM:616827]: An autosomal recessive muscular dystrophy characterized by childhood-onset of muscle weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy, and macroglossia with a small tip resulting in a triangular tongue. {ECO:0000269|PubMed:25589244}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Plays a role in modulating cell spreading and migration. {ECO:0000269|PubMed:12167643}.
uniprot
proteins
mass_dalton
38916
uniprot
proteins
pubmed
12167643
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19963065
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25589244
uniprot
proteins
sequence_length
341
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Cell junction, focal adhesion {ECO:0000269|PubMed:12167643}. Cell membrane {ECO:0000269|PubMed:12167643}; Peripheral membrane protein {ECO:0000269|PubMed:12167643}; Cytoplasmic side {ECO:0000269|PubMed:12167643}.
uniprot
proteins