MYH16 (myosin heavy chain 16)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 84176
Gene name Myosin heavy chain 16
Gene symbol MYH16
Synonyms (NCBI Gene)
MHC20MYH16PMYH5
Chromosome 7
Chromosome location 7q22.1
Summary The MYH16 gene, encoding a sarcomeric myosin heavy chain expressed in nonhuman primate masticatory muscles, is inactivated in humans. Stedman et al. (2004) [PubMed 15042088] hypothesized that the decrement in masticatory muscle size caused by the inactiva
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0016459 Component Myosin complex IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608580 31038 HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H6N6
Protein name Putative uncharacterized protein MYH16 (Myosin heavy chain 16 pseudogene) (myosin heavy polypeptide 5)
Protein function Has most probably lost the function in masticatory muscles contraction suspected for its homologs in dog (AC F1PT61) and apes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01576 Myosin_tail_1 35 → 329 Myosin tail Coiled-coil
PF01576 Myosin_tail_1 325 → 1087 Myosin tail Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in muscles of the head including temporalis and tensor veli palatini. {ECO:0000269|PubMed:15042088}.
Sequence 
MGLKVIQQNVHKFLQLRFWGWWKLYNKVKPLLNVARQEEEMKAKEEELRKAMAQTQELVN
KVKELEEKTATLSQEKNDLTIQLQAEQENLMDAEERLTWMMKTKMDLESQISDMRERLEE
EEGMAASLSAAKRKLEGELSDLKRDLEGLETTLAKTEKEKQALDHKVRTLTGDLSLREDS
ITKLQKEKRALEELHQKTLDDLQAEEDKVNHLTKNNSKLSTQIHELEDNWEQEKKIRAEV
EKARRKAESDLKMTIDNLNEMERSKLDLEEVVKKRDLEINSVNSKYEDEQSLNSTLQRKL
KEHQDRIEELEEELEAERAMRAKIEQNRKREAELLKLRRELEEAALQSEATASTLRKKHV
DSMAELTEHVESLQRVKSKLEKDKQVMKAEIDDLNASMETIQKSKMNAEAHVRKLEDSLS
EANAKVAELERNQAEINAIRTRLQAENSELSREYEESQSRLNQILRIKTSLTSQVDDYKR
QLDEESKSRSTAVVSLANTKHDLDLVKEQLEEEQGGKSELQRLVSKLNTEVTTWRTKYET
DAIQRTEELEETKRKLAARLQEAEEAAETAQARAASLEKNKQRLQAEVEDLTIDLEKANA
AAAALDKKQRLFDKMLAEWQQKCEELQVEVDSSQKECRMYMTESFKIKTAYEESLEHLES
VKKENKTLQEEIKDLIDQLGEGGRSVHELQKLKKKLEMEKEELQVALEEAESSLEVEESK
VIRIQLELAQVKADIDRRIHEKEEEFEATRKNHQRAIESLQASLEAEAKGRAEALRLKKK
METDLNEMEIQLDHANKNNSELVKTLKRLQQQIKDLQVQMDEDARQHEELRKQYNLQERR
LSLLQTELEEVRSALEGSERSRKLLEQEVVEITEWHNEINIQNQSLLVVKRKLESDVQRI
SNEHEELISEFRLTEERAKKAMMDAARMAEELRQEQDHCMHLEKIKKNYEVTIKDLQAKM
EEAEQLALKGGKRTIMKLEARIKELETELDGEQKQHVETVKTLCKNERRLKELVFQTEED
HKTNQRMQALVEKLQNKLKVYKRQIEEAEDQANQTLARYRKTVHELDDAEDRAGMAETAL
NKLRTRHRVAGKGITSV
Sequence length 1097
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LEUKEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations