MYPN

Protein identityUniProt · HPA

UniProt accession

Q86TC9

Gene

MYPN

Ensembl

ENSG00000138347

Chromosome

10

Canonical length

1320 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Vesicles,Cytosol

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

1320 residues, UniProt reviewed canonical sequence.

>Q86TC9|MYPN
     1  MQDDSIEAST SISQLLRESY LAETRHRGNN ERSRAEPSSN PCHFGSPSGA AEGGGGQDDL
    61  PDLSAFLSQE ELDESVNLAR LAINYDPLEK ADETQARKRL SPDQMKHSPN LSFEPNFCQD
   121  NPRSPTSSKE SPQEAKRPQY CSETQSKKVF LNKAADFIEE LSSLFKSHSS KRIRPRACKN
   181  HKSKLESQNK VMQENSSSFS DLSERRERSS VPIPIPADTR DNEVNHALEQ QEAKRREAEQ
   241  AASEAAGGDT TPGSSPSSLY YEEPLGQPPR FTQKLRSREV PEGTRVQLDC IVVGIPPPQV
   301  RWYCEGKELE NSPDIHIVQA GNLHSLTIAE AFEEDTGRYS CFASNIYGTD STSAEIYIEG
   361  VSSSDSEGDP NKEEMNRIQK PNEVSSPPTT SAVIPPAVPQ AQHLVAQPRV ATIQQCQSPT
   421  NYLQGLDGKP IIAAPVFTKM LQNLSASEGQ LVVFECRVKG APSPKVEWYR EGTLIEDSPD
   481  FRILQKKPRS MAEPEEICTL VIAEVFAEDS GCFTCTASNK YGTVSSIAQL HVRGNEDLSN
   541  NGSLHSANST TNLAAIEPQP SPPHSEPPSV EQPPKPKLEG VLVNHNEPRS SSRIGLRVHF
   601  NLPEDDKGSE ASSEAGVVTT RQTRPDSFQE RFNGQATKTP EPSSPVKEPP PVLAKPKLDS
   661  TQLQQLHNQV LLEQHQLQNP PPSSPKEFPF SMTVLNSNAP PAVTTSSKQV KAPSSQTFSL
   721  ARPKYFFPST NTTAATVAPS SSPVFTLSST PQTIQRTVSK ESLLVSHPSV QTKSPGGLSI
   781  QNEPLPPGPT EPTPPPFTFS IPSGNQFQPR CVSPIPVSPT SRIQNPVAFL SSVLPSLPAI
   841  PPTNAMGLPR SAPSMPSQGL AKKNTKSPQP VNDDNIRETK NAVIRDLGKK ITFSDVRPNQ
   901  QEYKISSFEQ RLMNEIEFRL ERTPVDESDD EIQHDEIPTG KCIAPIFDKR LKHFRVTEGS
   961  PVTFTCKIVG IPVPKVYWFK DGKQISKRNE HCKMRREGDG TCSLHIESTT SDDDGNYTIM
  1021  AANPQGRISC SGHLMVQSLP IRSRLTSAGQ SHRGRSRVQE RDKEPLQERF FRPHFLQAPG
  1081  DMVAHEGRLC RLDCKVSGLP PPELTWLLNG QPVLPDASHK MLVRETGVHS LLIDPLTQRD
  1141  AGTYKCIATN KTGQNSFSLE LSVVAKEVKK APVILEKLQN CGVPEGHPVR LECRVIGMPP
  1201  PVFYWKKDNE TIPCTRERIS MHQDTTGYAC LLIQPAKKSD AGWYTLSAKN EAGIVSCTAR
  1261  LDIYAQWHHQ IPPPMSVRPS GSRYGSLTSK GLDIFSAFSS MESTMVYSCS SRSVVESDEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYPN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.53

Highest tissue expression

270 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYPN.

Disease | AllUniProt

Conditions MYPN is implicated in, by any mechanism.

• Congenital myopathy 24 (CMYO24) MIM:617336
• Cardiomyopathy, dilated, 1KK (CMD1KK) MIM:615248
• Cardiomyopathy, familial hypertrophic, 22 (CMH22) MIM:615248
• Cardiomyopathy, familial restrictive 4 (RCM4) MIM:615248

Disease | GeneticClinVar

77 pathogenic / likely-pathogenic of 1,954 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Dilated cardiomyopathy 1KK
• MYPN-related myopathy
• Cardiovascular phenotype
• MYPN-related disorder
• Cardiomyopathy, familial restrictive, 4

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.51

gnomAD pLI

0

gnomAD missense Z

0.13

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• axon guidance
• dendrite self-avoidance
• homophilic cell adhesion via plasma membrane adhesion molecules
• sarcomere organization

Molecular functions

• actin binding
• cell-cell adhesion mediator activity
• cytoskeletal protein binding
• muscle alpha-actinin binding
• SH3 domain binding

Cellular components

• axon
• cytosol
• I band
• nucleoplasm
• nucleus
• plasma membrane
• Z disc

Protein domainsUniProt · Pfam · InterPro

• Immunoglobulin subtype 2
• Immunoglobulin domain subtype
• Immunoglobulin-like domain
• Immunoglobulin I-set
• Immunoglobulin-like fold
• Immunoglobulin-like domain superfamily
• Immunoglobulin I-set domain

KeywordsUniProt

• Actin-binding
• Cardiomyopathy
• Coiled coil
• Cytoplasm
• Disulfide bond
• Immunoglobulin domain
• Nemaline myopathy
• Nucleus
• Phosphoprotein
• Repeat

InteractionsUniProt · HPA

Protein binding partners of MYPN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ACTN2
• CARP
• NEB
• NEBL
• ANKRD23