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MYO18B myosin XVIIIB [ Homo sapiens (human) ]

Gene ID: 84700, updated on 5-Mar-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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See MYO18B in Genome Data Viewer
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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