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    MYO16 myosin XVI [ Homo sapiens (human) ]

    Gene ID: 23026, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MYO16provided by HGNC
    Official Full Name
    myosin XVIprovided by HGNC
    Primary source
    HGNC:HGNC:29822
    See related
    Ensembl:ENSG00000041515 MIM:615479; AllianceGenome:HGNC:29822
    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
    MYR8; MYAP3; NYAP3; Myo16b; PPP1R107
    Summary
    This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest that this protein may regulate cell cycle progression. A variant within this gene may be associated with susceptibility to schizophrenia and elevated expression of this gene has been observed in the frontal cortex of human schizophrenia patients. [provided by RefSeq, Mar 2017]
    Expression
    Biased expression in brain (RPKM 1.6), fat (RPKM 1.1) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYO16 in Genome Data Viewer
    Location:
    13q33.3
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (108495716..109208005)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (107723546..108435400)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (109248253..109860353)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370355 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32209 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32236 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32244 Neighboring gene Sharpr-MPRA regulatory region 13714 Neighboring gene host cell factor C2 pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32288 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32298 Neighboring gene NANOG hESC enhancer GRCh37_chr13:109270467-109270968 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:109304354-109304547 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32357 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:109487341-109487872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7989 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32390 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:109643265-109644464 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:109663206-109663857 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:109752798-109753997 Neighboring gene MYO16 antisense RNA 2 Neighboring gene uncharacterized LOC124903208 Neighboring gene uncharacterized LOC105370356 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:109807999-109809198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:109811697-109812202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:109812203-109812708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5497 Neighboring gene uncharacterized LOC124903207 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:109841281-109841780 Neighboring gene MYO16 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:109863465-109864664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:109919619-109920577 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:109923095-109923823 Neighboring gene uncharacterized LOC130494219 Neighboring gene long intergenic non-protein coding RNA 3061

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Fine mapping on chromosome 13q32-34 and brain expression analysis implicates MYO16 in schizophrenia. Rodriguez-Murillo L, et al. Neuropsychopharmacology, 2014 Mar. PMID 24141571, Free PMC Article
    2. Myosin16b: The COOH-tail region directs localization to the nucleus and overexpression delays S-phase progression. Cameron RS, et al. Cell Motil Cytoskeleton, 2007 Jan. PMID 17029291
    3. Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus. Suetsugu H, et al. Hum Mol Genet, 2022 Mar 31. PMID 34850884, Free PMC Article
    4. Genome-wide linkage and association scans for pulse pressure in Chinese twins. Zhang D, et al. Hypertens Res, 2012 Nov. PMID 22763476
    5. Myr 8, a novel unconventional myosin expressed during brain development associates with the protein phosphatase catalytic subunits 1alpha and 1gamma1. Patel KG, et al. J Neurosci, 2001 Oct 15. PMID 11588169, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus.
      Title: Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus.
    2. KIRREL3 interacting proteins MAP1B and MYO16 are potential candidates for intellectual disability and autism spectrum disorder.
      Title: Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.
    3. This study suggest that common variation within MYO16 may contribute to the genetic liability to schizophrenia.
      Title: Fine mapping on chromosome 13q32-34 and brain expression analysis implicates MYO16 in schizophrenia.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    6. 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.
    7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Gene network analysis in a pediatric cohort identifies novel lung function genes.
    EBI GWAS Catalog
    Genome-wide association study of antiphospholipid antibodies.
    EBI GWAS Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide linkage and association scans for pulse pressure in Chinese twins.
    EBI GWAS Catalog
    GWAS of dental caries patterns in the permanent dentition.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0865

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables cytoskeletal motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cerebellum development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in negative regulation of G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of G1/S transition of mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in neuron projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    part_of myosin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    unconventional myosin-XVI
    Names
    MYO16 variant protein
    myosin heavy chain Myr 8
    neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 3
    neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3
    protein phosphatase 1, regulatory subunit 107
    unconventional myosin-16

    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

    1. NG_053147.2 RefSeqGene

      Range
      138897..717291
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198950.3 → NP_001185879.1  unconventional myosin-XVI isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL136132, AL157771, AL161431, AL353143, AL390918
      Consensus CDS
      CCDS73598.1
      UniProtKB/TrEMBL
      F8W883
      Related
      ENSP00000401633.3, ENST00000457511.7
      Conserved Domains (6) summary
      smart00242
      Location:426 → 1165
      MYSc; Myosin. Large ATPases
      COG0666
      Location:81 → 332
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:142 → 297
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14878
      Location:437 → 1155
      MYSc_Myo16; class XVI myosin, motor domain
      pfam15439
      Location:1253 → 1590
      NYAP_N; Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter
      sd00045
      Location:243 → 274
      ANK; ANK repeat [structural motif]

    2. NM_015011.3 → NP_055826.1  unconventional myosin-XVI isoform 2

      See identical proteins and their annotated locations for NP_055826.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL136132, AL157771, AL161431, AL353143, AL390918, AL512648
      Consensus CDS
      CCDS32008.1
      UniProtKB/Swiss-Prot
      A6H8Y0, A8MTX3, Q5VYX4, Q5VYX5, Q5VYX6, Q6ZS13, Q8N3C2, Q8N948, Q9Y6X6
      Related
      ENSP00000349145.2, ENST00000356711.7
      Conserved Domains (6) summary
      smart00242
      Location:404 → 1143
      MYSc; Myosin. Large ATPases
      COG0666
      Location:59 → 310
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:120 → 275
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14878
      Location:415 → 1133
      MYSc_Myo16; class XVI myosin, motor domain
      pfam15439
      Location:1231 → 1568
      NYAP_N; Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter
      sd00045
      Location:221 → 252
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      108495716..109208005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521062.2 → XP_011519364.1  unconventional myosin-XVI isoform X2

      See identical proteins and their annotated locations for XP_011519364.1

      UniProtKB/Swiss-Prot
      A6H8Y0, A8MTX3, Q5VYX4, Q5VYX5, Q5VYX6, Q6ZS13, Q8N3C2, Q8N948, Q9Y6X6
      Conserved Domains (6) summary
      smart00242
      Location:404 → 1143
      MYSc; Myosin. Large ATPases
      COG0666
      Location:59 → 310
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:120 → 275
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14878
      Location:415 → 1133
      MYSc_Myo16; class XVI myosin, motor domain
      pfam15439
      Location:1231 → 1568
      NYAP_N; Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter
      sd00045
      Location:221 → 252
      ANK; ANK repeat [structural motif]

    2. XM_047430183.1 → XP_047286139.1  unconventional myosin-XVI isoform X3

    3. XM_047430182.1 → XP_047286138.1  unconventional myosin-XVI isoform X1

    4. XM_047430184.1 → XP_047286140.1  unconventional myosin-XVI isoform X4

    5. XM_047430185.1 → XP_047286141.1  unconventional myosin-XVI isoform X5

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_013171811.1 Reference GRCh38.p14 PATCHES

      Range
      25478..116873
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      107723546..108435400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374267.1 → XP_054230242.1  unconventional myosin-XVI isoform X2

    2. XM_054374268.1 → XP_054230243.1  unconventional myosin-XVI isoform X3

    3. XM_054374266.1 → XP_054230241.1  unconventional myosin-XVI isoform X1

    4. XM_054374269.1 → XP_054230244.1  unconventional myosin-XVI isoform X4

    5. XM_054374270.1 → XP_054230245.1  unconventional myosin-XVI isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6X6.3 GenPept UniProtKB/Swiss-Prot:Q9Y6X6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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