MYH16
protein-codingmyosin heavy chain 16 pseudogene, the group of Myosin heavy chains, class II
Gene summary
The protein coding status of the MYH16 gene is uncertain. In nonhuman primates, this gene encodes a sarcomeric myosin heavy chain expressed in masticatory muscles, but has been hypothesized to be inactivated in humans. Stedman et al. (2004) [PubMed 15042088] suggest that the decrement in masticatory muscle size caused by the inactivation of MYH16 removed an evolutionary constraint on encephalization in early man. However, there is peptide support suggesting that a shorter protein containing only a myosin tail domain is expressed in human. [provided by RefSeq, Jul 2024]
- MYH5
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~68.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MYH16 variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001418285.1 | 22 | Standard | |
| Ensembl | ENSP00000521006.1 | 23 | Standard | |
| Ensembl | ENSP00000521006.2 | 22 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Molecular Function
- motor activity
Cellular Component
- myosin complex
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Has most probably lost the function in masticatory muscles contraction suspected for its homologs in dog (AC F1PT61) and apes. {ECO:0000303|PubMed:15042088}.;