LMOD2
entrez
442721
canonical
uniprot
Q6P5Q4
canonical
ensembl
ENSG00000170807
resolver
ensp
ENSP00000411932
resolver
genesymbol
LMOD2
resolver
hgnc
HGNC:6648
resolver
uniprot
A4D0W9
resolver
uniprot
A4D0Y2
resolver
uniprot
Q8WVJ8
resolver
uniprot_entry
LMOD2_HUMAN
resolver
uniprot_sec
A4D0W9
resolver
uniprot_sec
A4D0Y2
resolver
uniprot_sec
Q8WVJ8
resolver
amino_acid_sequence
MSTFGYRRGLSKYESIDEDELLASLSAEELKELERELEDIEPDRNLPVGLRQKSLTEKTPTGTFSREALMAYWEKESQKLLEKERLGECGKVAEDKEESEEELIFTESNSEVSEEVYTEEEEEESQEEEEEEDSDEEERTIETAKGINGTVNYDSVNSDNSKPKIFKSQIENINLTNGSNGRNTESPAAIHPCGNPTVIEDALDKIKSNDPDTTEVNLNNIENITTQTLTRFAEALKDNTVVKTFSLANTHADDSAAMAIAEMLKVNEHITNVNVESNFITGKGILAIMRALQHNTVLTELRFHNQRHIMGSQVEMEIVKLLKENTTLLRLGYHFELPGPRMSMTSILTRNMDKQRQKRLQEQKQQEGYDGGPNLRTKVWQRGTPSSSPYVSPRHSPWSSPKLPKKVQTVRSRPLSPVATPPPPPPPPPPPPPSSQRLPPPPPPPPPPLPEKKLITRNIAEVIKQQESAQRALQNGQKKKKGKKVKKQPNSILKEIKNSLRSVQEKKMEDSSRPSTPQRSAHENLMEAIRGSSIKQLKRVEVPEALR
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 2G (CMD2G) [MIM:619897]: 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. CMD2G is an autosomal recessive form characterized by early-onset, severe cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. {ECO:0000269|PubMed:31517052, ECO:0000269|PubMed:34888509, ECO:0000269|PubMed:35082396, ECO:0000269|PubMed:35188328}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mediates nucleation of actin filaments and thereby promotes actin polymerization (PubMed:18403713, PubMed:25250574, PubMed:26370058, PubMed:26417072). Plays a role in the regulation of actin filament length (By similarity). Required for normal sarcomere organization in the heart, and for normal heart function (PubMed:18403713). {ECO:0000250|UniProtKB:Q3UHZ5, ECO:0000269|PubMed:18403713, ECO:0000269|PubMed:25250574, ECO:0000269|PubMed:26370058, ECO:0000269|PubMed:26417072}.
uniprot
proteins
mass_dalton
61675
uniprot
proteins
mutagenesis
MUTAGEN 64; /note="F->D: Mildly impaired activity in promoting actin polymerization; when associated with D-69."; /evidence="ECO:0000269|PubMed:26417072"; MUTAGEN 69; /note="L->D: Mildly impaired activity in promoting actin polymerization; when associated with D-64."; /evidence="ECO:0000269|PubMed:26417072"; MUTAGEN 72..73; /note="YW->DD: Mildly impaired activity in promoting actin polymerization."; /evidence="ECO:0000269|PubMed:26417072"; MUTAGEN 284; /note="G->R: Strongly impaired activity in promoting actin polymerization."; /evidence="ECO:0000269|PubMed:26417072"; MUTAGEN 304; /note="H->G: Strongly impaired activity in promoting actin polymerization; when associated with G-334 and A-356."; /evidence="ECO:0000269|PubMed:26417072"; MUTAGEN 334; /note="H->G: Strongly impaired activity in promoting actin polymerization; when associated with G-304 and A-356."; /evidence="ECO:0000269|PubMed:26417072"; MUTAGEN 356; /note="R->A: Strongly impaired activity in promoting actin polymerization; when associated with G-304 and G-334."; /evidence="ECO:0000269|PubMed:26417072"; MUTAGEN 525..529; /note="LMEAI->AAEAA: Strongly impaired activity in promoting actin polymerization."; /evidence="ECO:0000269|PubMed:26417072"; MUTAGEN 537..540; /note="LKRV->AEEA: Strongly impaired activity in promoting actin polymerization."; /evidence="ECO:0000269|PubMed:26417072
uniprot
proteins
protein_family
Tropomodulin family
uniprot
proteins
pubmed
11318603
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18403713
uniprot
proteins
pubmed
20685966
uniprot
proteins
pubmed
25250574
uniprot
proteins
pubmed
26370058
uniprot
proteins
pubmed
26417072
uniprot
proteins
pubmed
26873245
uniprot
proteins
pubmed
31517052
uniprot
proteins
pubmed
34888509
uniprot
proteins
pubmed
35082396
uniprot
proteins
pubmed
35188328
uniprot
proteins
sequence_length
547
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:18403713, ECO:0000269|PubMed:20685966, ECO:0000269|PubMed:26370058}. Cytoplasm, myofibril {ECO:0000269|PubMed:20685966}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000269|PubMed:18403713, ECO:0000269|PubMed:20685966}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:26370058}. Note=Colocalizes with actin filaments in sarcomeres. Detected close to the M line. {ECO:0000269|PubMed:18403713, ECO:0000269|PubMed:20685966, ECO:0000269|PubMed:26370058}.
uniprot
proteins