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    MYO18B myosin XVIIIB [ Homo sapiens (human) ]

    Gene ID: 84700, updated on 5-May-2024

    Summary

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    Official Symbol
    MYO18Bprovided by HGNC
    Official Full Name
    myosin XVIIIBprovided by HGNC
    Primary source
    HGNC:HGNC:18150
    See related
    Ensembl:ENSG00000133454 MIM:607295; AllianceGenome:HGNC:18150
    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
    KFS4
    Summary
    The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in heart (RPKM 11.4) and testis (RPKM 1.5) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    22q12.1
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (25742188..26063847)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26203366..26530383)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26138155..26427011)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor kinase 3 Neighboring gene YES1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18788 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:26099534-26100733 Neighboring gene RNA, 5S ribosomal pseudogene 494 Neighboring gene Sharpr-MPRA regulatory region 14204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:26150305-26150816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:26150817-26151326 Neighboring gene Sharpr-MPRA regulatory region 2919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:26173086-26173586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:26173587-26174087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:26242211-26242711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18790 Neighboring gene MYO18B antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26331174-26331797 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26338651-26339188 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26339189-26339725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:26366162-26366954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:26366955-26367745 Neighboring gene RN7SK pseudogene 169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:26388463-26388963 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:26462043-26462848 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:26462849-26463654 Neighboring gene uncharacterized LOC102724801 Neighboring gene uncharacterized LOC105372971 Neighboring gene long intergenic non-protein coding RNA 2559

    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
    • 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. Myosin18B predicts favorable prognosis of cutaneous squamous-cell carcinoma. Cao C, et al. Genes Genomics, 2021 Apr. PMID 33555505
    2. Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism. Altuame FD, et al. Am J Med Genet A, 2021 Feb. PMID 33179433
    3. Myosin-18B Regulates Higher-Order Organization of the Cardiac Sarcomere through Thin Filament Cross-Linking and Thick Filament Dynamics. Latham SL, et al. Cell Rep, 2020 Sep 1. PMID 32877672
    4. Myosin-18B Promotes the Assembly of Myosin II Stacks for Maturation of Contractile Actomyosin Bundles. Jiu Y, et al. Curr Biol, 2019 Jan 7. PMID 30581023, Free PMC Article
    5. Lack of replication for the myosin-18B association with mathematical ability in independent cohorts. Pettigrew KA, et al. Genes Brain Behav, 2015 Apr. PMID 25778778, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Myosin18B predicts favorable prognosis of cutaneous squamous-cell carcinoma.
      Title: Myosin18B predicts favorable prognosis of cutaneous squamous-cell carcinoma.
    2. Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.
      Title: Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.
    3. Myosin-18B Regulates Higher-Order Organization of the Cardiac Sarcomere through Thin Filament Cross-Linking and Thick Filament Dynamics.
      Title: Myosin-18B Regulates Higher-Order Organization of the Cardiac Sarcomere through Thin Filament Cross-Linking and Thick Filament Dynamics.
    4. The results reveal a critical role for myosin-18B in myosin II stack assembly and provide evidence that myosin II stacks are important for a variety of vital processes in cells.
      Title: Myosin-18B Promotes the Assembly of Myosin II Stacks for Maturation of Contractile Actomyosin Bundles.
    5. MYO18B promoted hepatocellular carcinoma growth and migration via the activation of PI3K/AKT/mTOR signaling pathway.
      Title: MYO18B promotes hepatocellular carcinoma progression by activating PI3K/AKT/mTOR signaling pathway.
    6. Full loss of myo18b function results in a complete lack of sarcomeric structure, revealing a highly surprising and essential role for myo18b in sarcomere assembly. Importantly, scattered thin and thick filaments assemble throughout the sarcoplasm. These observations suggest a novel model of sarcomere assembly where Myo18b coordinates the integration of preformed thick and thin filaments into the sarcomere
      Title: Myo18b is essential for sarcomere assembly in fast skeletal muscle.
    7. Deficiency of MYO18B is linked to a novel developmental disorder which combines KFA with myopathy.
      Title: A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
    8. No associations were found between rs133885 in myosin-18B and mathematical abilities among individuals with dyslexia or in the general population.
      Title: Lack of replication for the myosin-18B association with mathematical ability in independent cohorts.
    9. A common MYO18B variant is associated with mathematical disability in children with dyslexia and with intraparietal sulcus variability in neurotypical adults.
      Title: A common variant in myosin-18B contributes to mathematical abilities in children with dyslexia and intraparietal sulcus variability in adults.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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

    Associated conditions

    Description Tests
    Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
    MedGen: C4225285 OMIM: 616549 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A common variant in myosin-18B contributes to mathematical abilities in children with dyslexia and intraparietal sulcus variability in adults.
    EBI GWAS Catalog
    Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.
    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

    • FLJ41942, DKFZp434C2422, DKFZp779C1668

    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 cytoskeletal motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of filamentous actin IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of myosin II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in myosin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of unconventional myosin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of unconventional myosin complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    unconventional myosin-XVIIIb
    Names
    myosin 18B

    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_046772.2 RefSeqGene

      Range
      5002..293859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318245.2 → NP_001305174.1  unconventional myosin-XVIIIb isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB075376, AJ310931, AL079300, AY077700
      Consensus CDS
      CCDS82703.1
      Related
      ENSP00000386096.2, ENST00000407587.6
      Conserved Domains (7) summary
      smart00242
      Location:566 → 1334
      MYSc; Myosin. Large ATPases
      COG1196
      Location:1415 → 2091
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:585 → 1322
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:72 → 500
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:1747 → 1761
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:1681 → 1776
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:1881 → 1978
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    2. NM_032608.7 → NP_115997.5  unconventional myosin-XVIIIb isoform 2

      See identical proteins and their annotated locations for NP_115997.5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB075376, AJ310931, AL079300
      Consensus CDS
      CCDS54507.1
      UniProtKB/Swiss-Prot
      A0A075B6F5, B2RWP3, F5GXR6, F5GYU7, Q8IUG5, Q8NDI8, Q8TE65, Q8WWS0, Q96KH2, Q96KR8, Q96KR9
      Related
      ENSP00000334563.8, ENST00000335473.12
      Conserved Domains (3) summary
      cd01386
      Location:585 → 1321
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:72 → 500
      Glutenin_hmw; High molecular weight glutenin subunit
      cl27381
      Location:510 → 2086
      Myosin_head; Myosin head (motor domain)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      25742188..26063847
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530461.3 → XP_011528763.1  unconventional myosin-XVIIIb isoform X1

      See identical proteins and their annotated locations for XP_011528763.1

      Conserved Domains (3) summary
      COG5022
      Location:552 → 2129
      COG5022; Myosin heavy chain [General function prediction only]
      TIGR00927
      Location:263 → 555
      2A1904; K+-dependent Na+/Ca+ exchanger
      cd01386
      Location:627 → 1364
      MYSc_Myo18; class XVIII myosin, motor domain

    2. XM_011530458.3 → XP_011528760.1  unconventional myosin-XVIIIb isoform X1

      See identical proteins and their annotated locations for XP_011528760.1

      Conserved Domains (3) summary
      COG5022
      Location:552 → 2129
      COG5022; Myosin heavy chain [General function prediction only]
      TIGR00927
      Location:263 → 555
      2A1904; K+-dependent Na+/Ca+ exchanger
      cd01386
      Location:627 → 1364
      MYSc_Myo18; class XVIII myosin, motor domain

    3. XM_017029014.2 → XP_016884503.1  unconventional myosin-XVIIIb isoform X4

    4. XM_011530464.3 → XP_011528766.1  unconventional myosin-XVIIIb isoform X3

      Conserved Domains (7) summary
      smart00242
      Location:608 → 1375
      MYSc; Myosin. Large ATPases
      COG1196
      Location:1456 → 2132
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:627 → 1363
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:114 → 542
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:1788 → 1802
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:1722 → 1817
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:1922 → 2019
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    5. XM_047441551.1 → XP_047297507.1  unconventional myosin-XVIIIb isoform X5

    6. XM_017029015.2 → XP_016884504.1  unconventional myosin-XVIIIb isoform X6

      Conserved Domains (3) summary
      COG5022
      Location:510 → 2085
      COG5022; Myosin heavy chain [General function prediction only]
      cd01386
      Location:585 → 1321
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:201 → 507
      Glutenin_hmw; High molecular weight glutenin subunit

    7. XM_011530466.3 → XP_011528768.1  unconventional myosin-XVIIIb isoform X8

      Conserved Domains (6) summary
      smart00242
      Location:608 → 1376
      MYSc; Myosin. Large ATPases
      COG1196
      Location:1445 → 2083
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:627 → 1364
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam08537
      Location:1452 → 1580
      NBP1; Fungal Nap binding protein NBP1
      cd16269
      Location:1789 → 1803
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:1723 → 1818
      GBP_C; Guanylate-binding protein, C-terminal domain

    8. XM_011530459.3 → XP_011528761.1  unconventional myosin-XVIIIb isoform X1

      See identical proteins and their annotated locations for XP_011528761.1

      Conserved Domains (3) summary
      COG5022
      Location:552 → 2129
      COG5022; Myosin heavy chain [General function prediction only]
      TIGR00927
      Location:263 → 555
      2A1904; K+-dependent Na+/Ca+ exchanger
      cd01386
      Location:627 → 1364
      MYSc_Myo18; class XVIII myosin, motor domain

    9. XM_017029013.2 → XP_016884502.1  unconventional myosin-XVIIIb isoform X1

      Conserved Domains (3) summary
      COG5022
      Location:552 → 2129
      COG5022; Myosin heavy chain [General function prediction only]
      TIGR00927
      Location:263 → 555
      2A1904; K+-dependent Na+/Ca+ exchanger
      cd01386
      Location:627 → 1364
      MYSc_Myo18; class XVIII myosin, motor domain

    10. XM_011530460.3 → XP_011528762.1  unconventional myosin-XVIIIb isoform X2

      Conserved Domains (7) summary
      smart00242
      Location:608 → 1376
      MYSc; Myosin. Large ATPases
      COG1196
      Location:1457 → 2133
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:627 → 1364
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:114 → 542
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:1789 → 1803
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:1723 → 1818
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:1923 → 2020
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    11. XM_011530465.3 → XP_011528767.1  unconventional myosin-XVIIIb isoform X7

      Conserved Domains (3) summary
      COG5022
      Location:391 → 1968
      COG5022; Myosin heavy chain [General function prediction only]
      cd01386
      Location:466 → 1203
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:82 → 388
      Glutenin_hmw; High molecular weight glutenin subunit

    12. XM_017029016.2 → XP_016884505.1  unconventional myosin-XVIIIb isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      26203366..26530383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326038.1 → XP_054182013.1  unconventional myosin-XVIIIb isoform X1

    2. XM_054326037.1 → XP_054182012.1  unconventional myosin-XVIIIb isoform X1

    3. XM_054326043.1 → XP_054182018.1  unconventional myosin-XVIIIb isoform X4

    4. XM_054326042.1 → XP_054182017.1  unconventional myosin-XVIIIb isoform X3

    5. XM_054326044.1 → XP_054182019.1  unconventional myosin-XVIIIb isoform X5

    6. XM_054326045.1 → XP_054182020.1  unconventional myosin-XVIIIb isoform X6

    7. XM_054326047.1 → XP_054182022.1  unconventional myosin-XVIIIb isoform X8

    8. XM_054326039.1 → XP_054182014.1  unconventional myosin-XVIIIb isoform X1

    9. XM_054326040.1 → XP_054182015.1  unconventional myosin-XVIIIb isoform X1

    10. XM_054326041.1 → XP_054182016.1  unconventional myosin-XVIIIb isoform X2

    11. XM_054326046.1 → XP_054182021.1  unconventional myosin-XVIIIb isoform X7

    12. XM_054326048.1 → XP_054182023.1  unconventional myosin-XVIIIb isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IUG5.2 GenPept UniProtKB/Swiss-Prot:Q8IUG5

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