Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84665
Gene name Gene Name - the full gene name approved by the HGNC.
Myopalladin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYPN
Synonyms (NCBI Gene) Gene synonyms aliases
CMD1DD, CMH22, CMYO24, CMYP24, MYOP, NEM11, RCM4
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608517 23246 ENSG00000138347
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Dilated Cardiomyopathy Dilated cardiomyopathy 1KK rs1057519573, rs865921466, rs1589608098 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy N/A N/A ClinVar
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Cap Myopathy cap myopathy N/A N/A GenCC
Associations from Text Mining Disease 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