MYPN
entrez
84665
canonical
uniprot
Q86TC9
canonical
ensembl
ENSG00000138347
resolver
ensp
ENSP00000351790
resolver
ensp
ENSP00000441668
resolver
ensp
ENSP00000480757
resolver
enst
ENST00000613327
resolver
genesymbol
MYPN
resolver
genesymbol_syn
MYOP
resolver
hgnc
HGNC:23246
resolver
uniprot
A0A087WX60
resolver
uniprot
Q5VV35
resolver
uniprot
Q5VV36
resolver
uniprot
Q86T37
resolver
uniprot
Q8N3L4
resolver
uniprot
Q96K90
resolver
uniprot
Q96KF5
resolver
uniprot_entry
A0A087WX60_HUMAN
resolver
uniprot_entry
MYPN_HUMAN
resolver
uniprot_sec
Q5VV35
resolver
uniprot_sec
Q5VV36
resolver
uniprot_sec
Q86T37
resolver
uniprot_sec
Q8N3L4
resolver
uniprot_sec
Q96K90
resolver
uniprot_sec
Q96KF5
resolver
amino_acid_sequence
MQDDSIEASTSISQLLRESYLAETRHRGNNERSRAEPSSNPCHFGSPSGAAEGGGGQDDLPDLSAFLSQEELDESVNLARLAINYDPLEKADETQARKRLSPDQMKHSPNLSFEPNFCQDNPRSPTSSKESPQEAKRPQYCSETQSKKVFLNKAADFIEELSSLFKSHSSKRIRPRACKNHKSKLESQNKVMQENSSSFSDLSERRERSSVPIPIPADTRDNEVNHALEQQEAKRREAEQAASEAAGGDTTPGSSPSSLYYEEPLGQPPRFTQKLRSREVPEGTRVQLDCIVVGIPPPQVRWYCEGKELENSPDIHIVQAGNLHSLTIAEAFEEDTGRYSCFASNIYGTDSTSAEIYIEGVSSSDSEGDPNKEEMNRIQKPNEVSSPPTTSAVIPPAVPQAQHLVAQPRVATIQQCQSPTNYLQGLDGKPIIAAPVFTKMLQNLSASEGQLVVFECRVKGAPSPKVEWYREGTLIEDSPDFRILQKKPRSMAEPEEICTLVIAEVFAEDSGCFTCTASNKYGTVSSIAQLHVRGNEDLSNNGSLHSANSTTNLAAIEPQPSPPHSEPPSVEQPPKPKLEGVLVNHNEPRSSSRIGLRVHFNLPEDDKGSEASSEAGVVTTRQTRPDSFQERFNGQATKTPEPSSPVKEPPPVLAKPKLDSTQLQQLHNQVLLEQHQLQNPPPSSPKEFPFSMTVLNSNAPPAVTTSSKQVKAPSSQTFSLARPKYFFPSTNTTAATVAPSSSPVFTLSSTPQTIQRTVSKESLLVSHPSVQTKSPGGLSIQNEPLPPGPTEPTPPPFTFSIPSGNQFQPRCVSPIPVSPTSRIQNPVAFLSSVLPSLPAIPPTNAMGLPRSAPSMPSQGLAKKNTKSPQPVNDDNIRETKNAVIRDLGKKITFSDVRPNQQEYKISSFEQRLMNEIEFRLERTPVDESDDEIQHDEIPTGKCIAPIFDKRLKHFRVTEGSPVTFTCKIVGIPVPKVYWFKDGKQISKRNEHCKMRREGDGTCSLHIESTTSDDDGNYTIMAANPQGRISCSGHLMVQSLPIRSRLTSAGQSHRGRSRVQERDKEPLQERFFRPHFLQAPGDMVAHEGRLCRLDCKVSGLPPPELTWLLNGQPVLPDASHKMLVRETGVHSLLIDPLTQRDAGTYKCIATNKTGQNSFSLELSVVAKEVKKAPVILEKLQNCGVPEGHPVRLECRVIGMPPPVFYWKKDNETIPCTRERISMHQDTTGYACLLIQPAKKSDAGWYTLSAKNEAGIVSCTARLDIYAQWHHQIPPPMSVRPSGSRYGSLTSKGLDIFSAFSSMESTMVYSCSSRSVVESDEL
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 24 (CMYO24) [MIM:617336]: An autosomal recessive muscular disorder characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure. Muscle biopsy shows nemaline bodies. {ECO:0000269|PubMed:28017374}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 1KK (CMD1KK) [MIM:615248]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:18006477, ECO:0000269|PubMed:22286171, ECO:0000269|PubMed:22892539}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, familial hypertrophic, 22 (CMH22) [MIM:615248]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:22286171}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, familial restrictive 4 (RCM4) [MIM:615248]: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. {ECO:0000269|PubMed:22286171}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines. {ECO:0000269|PubMed:11309420}.
uniprot
proteins
mass_dalton
145257
uniprot
proteins
protein_family
Myotilin/palladin family
uniprot
proteins
pubmed
11309420
uniprot
proteins
pubmed
12482578
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18006477
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22286171
uniprot
proteins
pubmed
22892539
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25787250
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
28017374
uniprot
proteins
sequence_length
1320
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11309420}. Nucleus {ECO:0000269|PubMed:11309420}. Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:11309420}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:11309420, ECO:0000269|PubMed:28017374}. Note=Bound to sarcomere both at the Z-line periphery and in the central I-band region. {ECO:0000269|PubMed:11309420}.
uniprot
proteins