MYPN myopalladin [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYPNprovided by HGNC
Official Full Name: myopalladinprovided by HGNC
Primary source: HGNC:HGNC:23246
See related: Ensembl:ENSG00000138347 MIM:608517; AllianceGenome:HGNC:23246
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MYOP; RCM4; CMH22; NEM11; CMD1DD; CMYP24
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 accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
Expression: Biased expression in heart (RPKM 21.7) and prostate (RPKM 1.5) See more
Orthologs: mouse all
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Genomic context

Location:: 10q21.3

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (68087897..68212017)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (68956458..69080820)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (69865764..69971774)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A consanguineous family with congenital to adult-onset muscle weakness and hanging big toe was reported. Muscle biopsy showed minimal changes with internal nuclei, type 1 fiber predominance, and ultrastructural defects of Z line. Cardiac involvement was demonstrated by magnetic resonance imaging and late gadolinium enhancement.
Title: Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.
Targeted sequencing revealed trigenic mutations: c.700G>A/p.E234K in DES, c.2966G>A/p.R989H in MYPN, and c.5918G>C/p.R1973P in CACNA1C in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.
Title: Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.
Homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy.
Title: Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
results suggest that MYPN screening should be considered in individuals with mild nemaline myopathy, especially when cardiac problems or intranuclear rods are present
Title: Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Heterozygote Mypn(WT/Q526X) knock-in mice develop RCM due to persistence of mutant Mypn(Q526X) protein in the nucleus.
Title: Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy.
the clinical significance of myopalladin for the functional integrity of the sarcomeric apparatus and the protection against dilated cardiomyopathy
Title: Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
Two nonsense and 13 missense MYPN variants were identified in subjects with hypertrophic, dilated and/or restrictive cardiomyopathy.
Title: Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
mutations in PDLIM3 and MYPN are infrequent in hypertrophic cardiomyopathies
Title: Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dilated cardiomyopathy 1KK MedGen: C3714995 OMIM: 615248 GeneReviews: Not available	Compare labs
MYPN-related myopathy MedGen: C4479186 OMIM: 617336 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH104074 (e-PCR)
- UniSTS:98399

G35510 (e-PCR)
- UniSTS:44150

G59578 (e-PCR)
- UniSTS:136882

RH48646 (e-PCR)
- UniSTS:240

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin binding	IEA Inferred from Electronic Annotation more info
enables cell-cell adhesion mediator activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytoskeletal protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables muscle alpha-actinin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in dendrite self-avoidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in I band	IDA Inferred from Direct Assay more info	PubMed
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: myopalladin

Names: sarcomeric protein myopalladin, 145 kDa (MYOP)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032118.1 RefSeqGene

Range

5001..110901

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_410

mRNA and Protein(s)

NM_001256267.2 → NP_001243196.1 myopalladin isoform a

See identical proteins and their annotated locations for NP_001243196.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Both variants 1 and 4 encode isoform a.

Source sequence(s)

AC016395, AC024258, AL512429

Consensus CDS

CCDS7275.1

UniProtKB/Swiss-Prot

Q5VV35, Q5VV36, Q86T37, Q86TC9, Q8N3L4, Q96K90, Q96KF5

UniProtKB/TrEMBL

A0A8J9ASZ5

Related

ENSP00000480757.2, ENST00000613327.5

Conserved Domains (3) summary

cd00096
Location:962 → 1031

Ig; Immunoglobulin domain

pfam07679
Location:269 → 355

I-set; Immunoglobulin I-set domain

cl11960
Location:1189 → 1263

Ig; Immunoglobulin domain
NM_001256268.2 → NP_001243197.1 myopalladin isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains four additional exons in the 5' region and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC016395, AC024258, AL512429

UniProtKB/TrEMBL

A0A087WX60

Conserved Domains (3) summary

cd00096
Location:668 → 737

Ig; Immunoglobulin domain

pfam07679
Location:779 → 869

I-set; Immunoglobulin I-set domain

cl11960
Location:895 → 969

Ig; Immunoglobulin domain
NM_032578.4 → NP_115967.2 myopalladin isoform a

See identical proteins and their annotated locations for NP_115967.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a). Both variants 1 and 4 encode isoform a.

Source sequence(s)

AC016395, AF328296, AL832002, BQ009261

Consensus CDS

CCDS7275.1

UniProtKB/Swiss-Prot

Q5VV35, Q5VV36, Q86T37, Q86TC9, Q8N3L4, Q96K90, Q96KF5

UniProtKB/TrEMBL

A0A8J9ASZ5

Related

ENSP00000351790.5, ENST00000358913.10

Conserved Domains (3) summary

cd00096
Location:962 → 1031

Ig; Immunoglobulin domain

pfam07679
Location:269 → 355

I-set; Immunoglobulin I-set domain

cl11960
Location:1189 → 1263

Ig; Immunoglobulin domain

RNA

NR_045662.4 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses alternate exon structure in the 5' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated decay (NMD).

Source sequence(s)

AC016395, AC024258, AL512429

Related

ENST00000354393.7
NR_045663.4 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate exons in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC016395, AC024258, AL512429

Related

ENST00000688812.1