Gene Gene information from NCBI Gene database.
Entrez ID 84665
Gene name Myopalladin
Gene symbol MYPN
Synonyms (NCBI Gene)
CMD1DDCMH22CMYO24CMYP24MYOPNEM11RCM4
Chromosome 10
Chromosome location 10q21.3
Summary Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and ac
SNPs SNP information provided by dbSNP.
23
SNP ID Visualize variation Clinical significance Consequence
rs2673793 C>G,T Conflicting-interpretations-of-pathogenicity, benign Non coding transcript variant, coding sequence variant, synonymous variant
rs71534278 C>A,T Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, benign-likely-benign, benign Missense variant, coding sequence variant, non coding transcript variant
rs71534280 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Missense variant, coding sequence variant, non coding transcript variant
rs71584501 G>A Uncertain-significance, pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs138313730 C>A Benign-likely-benign, benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
320
miRTarBase ID miRNA Experiments Reference
MIRT017101 hsa-miR-335-5p Microarray 18185580
MIRT021986 hsa-miR-128-3p Microarray 17612493
MIRT022358 hsa-miR-124-3p Microarray 18668037
MIRT701615 hsa-miR-6771-3p HITS-CLIP 23313552
MIRT701614 hsa-miR-3163 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 11309420, 12482578
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608517 23246 ENSG00000138347
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86TC9
Protein name Myopalladin (145 kDa sarcomeric protein)
Protein function Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 269 358 Immunoglobulin I-set domain Domain
PF07679 I-set 435 532 Immunoglobulin I-set domain Domain
PF07679 I-set 945 1036 Immunoglobulin I-set domain Domain
PF07679 I-set 1073 1163 Immunoglobulin I-set domain Domain
PF07679 I-set 1172 1263 Immunoglobulin I-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in adult skeletal muscle and fetal heart. {ECO:0000269|PubMed:11309420}.
Sequence
MQDDSIEASTSISQLLRESYLAETRHRGNNERSRAEPSSNPCHFGSPSGAAEGGGGQDDL
PDLSAFLSQEELDESVNLARLAINYDPLEKADETQARKRLSPDQMKHSPNLSFEPNFCQD
NPRSPTSSKESPQEAKRPQYCSETQSKKVFLNKAADFIEELSSLFKSHSSKRIRPRACKN
HKSKLESQNKVMQENSSSFSDLSERRERSSVPIPIPADTRDNEVNHALEQQEAKRREAEQ
AASEAAGGDTTPGSSPSSLYYEEPLGQPPRFTQKLRSREVPEGTRVQLDCIVVGIPPPQV
RWYCEGKELENSPDIHIVQAGNLHSLTIAEAFEEDTGRYSCFASNIYGTDSTSAEIYI
EG
VSSSDSEGDPNKEEMNRIQKPNEVSSPPTTSAVIPPAVPQAQHLVAQPRVATIQQCQSPT
NYLQGLDGKPIIAAPVFTKMLQNLSASEGQLVVFECRVKGAPSPKVEWYREGTLIEDSPD
FRILQKKPRSMAEPEEICTLVIAEVFAEDSGCFTCTASNKYGTVSSIAQLHV
RGNEDLSN
NGSLHSANSTTNLAAIEPQPSPPHSEPPSVEQPPKPKLEGVLVNHNEPRSSSRIGLRVHF
NLPEDDKGSEASSEAGVVTTRQTRPDSFQERFNGQATKTPEPSSPVKEPPPVLAKPKLDS
TQLQQLHNQVLLEQHQLQNPPPSSPKEFPFSMTVLNSNAPPAVTTSSKQVKAPSSQTFSL
ARPKYFFPSTNTTAATVAPSSSPVFTLSSTPQTIQRTVSKESLLVSHPSVQTKSPGGLSI
QNEPLPPGPTEPTPPPFTFSIPSGNQFQPRCVSPIPVSPTSRIQNPVAFLSSVLPSLPAI
PPTNAMGLPRSAPSMPSQGLAKKNTKSPQPVNDDNIRETKNAVIRDLGKKITFSDVRPNQ
QEYKISSFEQRLMNEIEFRLERTPVDESDDEIQHDEIPTGKCIAPIFDKRLKHFRVTEGS
PVTFTCKIVGIPVPKVYWFKDGKQISKRNEHCKMRREGDGTCSLHIESTTSDDDGNYTIM
AANPQGRISCSGHLMV
QSLPIRSRLTSAGQSHRGRSRVQERDKEPLQERFFRPHFLQAPG
DMVAHEGRLCRLDCKVSGLPPPELTWLLNGQPVLPDASHKMLVRETGVHSLLIDPLTQRD
AGTYKCIATNKTGQNSFSLELSV
VAKEVKKAPVILEKLQNCGVPEGHPVRLECRVIGMPP
PVFYWKKDNETIPCTRERISMHQDTTGYACLLIQPAKKSDAGWYTLSAKNEAGIVSCTAR
LDI
YAQWHHQIPPPMSVRPSGSRYGSLTSKGLDIFSAFSSMESTMVYSCSSRSVVESDEL
Sequence length 1320
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cytoskeleton in muscle cells  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2219
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy, familial restrictive, 4 Pathogenic rs199476408 RCV000043547
Cardiovascular phenotype Pathogenic; Likely pathogenic rs2495676595, rs772657844, rs753094063, rs2495701378, rs2495590778, rs2495728963, rs2495796729, rs781261060 RCV002389410
RCV002437430
RCV002442257
RCV004068824
RCV003306298
RCV003306304
RCV004519870
RCV004649146
Congenital myopathy Likely pathogenic rs766502564 RCV004774613
Dilated cardiomyopathy 1KK Likely pathogenic; Pathogenic rs746850858, rs2134300034, rs2134198422, rs766502564, rs2134278222, rs2134204980, rs2134169413, rs2134168183, rs2133995502, rs2495465932, rs753094063, rs2495701378, rs2495461148, rs2495804503, rs2495467126
View all (15 more)
RCV002050379
RCV001932273
RCV001997111
RCV002023592
RCV001946555
RCV001958638
RCV001879410
RCV001887724
RCV002052192
RCV002288287
RCV003102947
RCV002610555
RCV002643086
RCV002863132
RCV002848214
RCV002893968
RCV002877431
RCV003034262
RCV003034623
RCV003054060
RCV003581130
RCV003582952
RCV003583016
RCV003741693
RCV003848463
RCV003874997
RCV001389633
RCV000710036
RCV000818659
RCV001204026
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs56006628 RCV005904168
Adrenocortical carcinoma, hereditary Benign; Likely benign rs62620248 RCV005888671
Arrhythmogenic right ventricular cardiomyopathy Conflicting classifications of pathogenicity rs777446804 RCV000852606
Cap myopathy Conflicting classifications of pathogenicity rs199476412 RCV004586025
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrioventricular Block Associate 31524317
Cap Myopathy Associate 31133047
Carcinoma Pancreatic Ductal Associate 33048956
Cardiomyopathies Associate 31133047
Cardiomyopathy Dilated Associate 22892539, 26458567, 30764827, 31524317
Cardiomyopathy Hypertrophic Associate 28427417
Cardiomyopathy Restrictive Associate 30953456, 31133047
Contracture Associate 31133047
Coronary Disease Associate 31524317
Glioma Associate 37192718