P54296 (MYOM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 112.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Myomesin-2 Alternative name(s): 165 kDa connectin-associated protein 165 kDa titin-associated protein M-protein Myomesin family member 2 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1465 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent. |
| Subunit structure | Interacts with TTN/titin By similarity. |
| Subcellular location | |
| Sequence similarities | Contains 5 fibronectin type-III domains. Contains 5 Ig-like C2-type (immunoglobulin-like) domains. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Thick filament |
| Coding sequence diversity | Polymorphism |
| Domain | Immunoglobulin domain Repeat |
| Molecular function | Muscle protein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | muscle contraction Traceable author statement Ref.1. Source: ProtInc |
| Cellular_component | M band Inferred from electronic annotation. Source: UniProtKB-SubCell myosin filamentInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular_function | structural constituent of muscle Traceable author statement Ref.1. Source: ProtInc |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ACTN2 | P35609 | 2 | EBI-5357134,EBI-77797 | |
| DYSF | O75923 | 3 | EBI-5357134,EBI-2799016 | |
| RYR1 | P21817 | 2 | EBI-5357134,EBI-1221290 | |
| TTN | Q8WZ42 | 2 | EBI-5357134,EBI-681210 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1465 | 1465 | Myomesin-2 | PRO_0000072686 | |||||
Regions | |||||||||
| Domain | 154 – 245 | 92 | Ig-like C2-type 1 | ||||||
| Domain | 266 – 371 | 106 | Ig-like C2-type 2 | ||||||
| Domain | 383 – 475 | 93 | Fibronectin type-III 1 | ||||||
| Domain | 511 – 603 | 93 | Fibronectin type-III 2 | ||||||
| Domain | 612 – 702 | 91 | Fibronectin type-III 3 | ||||||
| Domain | 711 – 803 | 93 | Fibronectin type-III 4 | ||||||
| Domain | 813 – 905 | 93 | Fibronectin type-III 5 | ||||||
| Domain | 904 – 1002 | 99 | Ig-like C2-type 3 | ||||||
| Domain | 1130 – 1211 | 82 | Ig-like C2-type 4 | ||||||
| Domain | 1345 – 1434 | 90 | Ig-like C2-type 5 | ||||||
Natural variations | |||||||||
| Natural variant | 81 | 1 | E → K. Corresponds to variant rs35985218 [ dbSNP | Ensembl ]. | VAR_033613 | |||||
| Natural variant | 182 | 1 | T → M. Corresponds to variant rs17064618 [ dbSNP | Ensembl ]. | VAR_033614 | |||||
| Natural variant | 321 | 1 | V → L. Ref.1 Corresponds to variant rs2272720 [ dbSNP | Ensembl ]. | VAR_033615 | |||||
| Natural variant | 363 | 1 | V → I. Corresponds to variant rs34316994 [ dbSNP | Ensembl ]. | VAR_033616 | |||||
| Natural variant | 601 | 1 | S → Y. Corresponds to variant rs36089594 [ dbSNP | Ensembl ]. | VAR_033617 | |||||
| Natural variant | 701 | 1 | V → I. Corresponds to variant rs35335787 [ dbSNP | Ensembl ]. | VAR_033618 | |||||
| Natural variant | 776 | 1 | T → M. Ref.3 Corresponds to variant rs2294066 [ dbSNP | Ensembl ]. | VAR_020083 | |||||
| Natural variant | 869 | 1 | N → S. Ref.1 Ref.3 Corresponds to variant rs968381 [ dbSNP | Ensembl ]. | VAR_054501 | |||||
| Natural variant | 1022 | 1 | L → F. Corresponds to variant rs2280896 [ dbSNP | Ensembl ]. | VAR_020084 | |||||
| Natural variant | 1168 | 1 | V → A. Ref.1 Ref.3 Corresponds to variant rs17854780 [ dbSNP | Ensembl ]. | VAR_061320 | |||||
| Natural variant | 1284 | 1 | E → D. Corresponds to variant rs34735757 [ dbSNP | Ensembl ]. | VAR_033619 | |||||
Experimental info | |||||||||
| Sequence conflict | 102 – 103 | 2 | QR → HG in CAA48832. Ref.1 | ||||||
| Sequence conflict | 364 | 1 | S → T in CAA48832. Ref.1 | ||||||
| Sequence conflict | 555 | 1 | S → T in CAA48832. Ref.1 | ||||||
| Sequence conflict | 863 | 1 | N → D in CAA48832. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The globular head domain of titin extends into the center of the sarcomeric M band. cDNA cloning, epitope mapping and immunoelectron microscopy of two titin-associated proteins." Vinkemeier U., Obermann W., Weber K., Fuerst D.O. J. Cell Sci. 106:319-330(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LEU-321; SER-869 AND ALA-1168. Tissue: Skeletal muscle. |
| [2] | "DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. Lander E.S.Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS MET-776; SER-869 AND ALA-1168. Tissue: PNS. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | X69089 mRNA. Translation: CAA48832.1. AC125453 Genomic DNA. No translation available. BC052969 mRNA. Translation: AAH52969.1. |
| IPI | IPI00005587. |
| PIR | S43529. |
| RefSeq | NP_003961.2. NM_003970.2. |
| UniGene | Hs.443683. |
3D structure databases | |
| ProteinModelPortal | P54296. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P54296. 13 interactions. |
| STRING | 9606.ENSP00000262113. |
PTM databases | |
| PhosphoSite | P54296. |
Polymorphism databases | |
| DMDM | 224471842. |
Proteomic databases | |
| PaxDb | P54296. |
| PRIDE | P54296. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000262113; ENSP00000262113; ENSG00000036448. ENST00000566299; ENSP00000454232; ENSG00000260130. |
| GeneID | 9172. |
| KEGG | hsa:9172. |
| UCSC | uc003wpx.4. human. |
Organism-specific databases | |
| CTD | 9172. |
| GeneCards | GC08P001993. |
| H-InvDB | HIX0025666. |
| HGNC | HGNC:7614. MYOM2. |
| HPA | HPA001765. HPA005953. |
| MIM | 603509. gene. |
| neXtProt | NX_P54296. |
| PharmGKB | PA31419. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG147025. |
| HOGENOM | HOG000293283. |
| HOVERGEN | HBG004977. |
| InParanoid | P54296. |
| OMA | DHSKLYF. |
| OrthoDB | EOG4HQDHF. |
Gene expression databases | |
| ArrayExpress | P54296. |
| Bgee | P54296. |
| CleanEx | HS_MYOM2. |
| Genevestigator | P54296. |
| GermOnline | ENSG00000036448. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.60.40.10. 11 hits. |
| InterPro | IPR003961. Fibronectin_type3. IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003599. Ig_sub. IPR003598. Ig_sub2. [Graphical view] |
| Pfam | PF00041. fn3. 5 hits. PF07679. I-set. 3 hits. [Graphical view] |
| SMART | SM00060. FN3. 5 hits. SM00409. IG. 2 hits. SM00408. IGc2. 1 hit. [Graphical view] |
| SUPFAM | SSF49265. FN_III-like. 5 hits. |
| PROSITE | PS50853. FN3. 5 hits. PS50835. IG_LIKE. 5 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | MYOM2. human. |
| GenomeRNAi | 9172. |
| NextBio | 34395. |
| SOURCE | Search... |
Entry information
| Entry name | MYOM2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P54296 Secondary accession number(s): Q7Z3Y2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 8 Human chromosome 8: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
