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    MYO18B myosin XVIIIB [ Homo sapiens (human) ]

    Gene ID: 84700, updated on 28-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYO18B in Genome Data Viewer
    Location:
    22q12.1
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (25742188..26063847)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26203366..26530383)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    unconventional myosin-XVIIIb
    Names
    myosin 18B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001318245.2NP_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:5661334
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14152091
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:5851322
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:72500
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:17471761
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:16811776
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:18811978
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    2. NM_032608.7NP_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:5851321
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:72500
      Glutenin_hmw; High molecular weight glutenin subunit
      cl27381
      Location:5102086
      Myosin_head; Myosin head (motor domain)

    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_000022.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_011528763.1

      Conserved Domains (3) summary
      COG5022
      Location:5522129
      COG5022; Myosin heavy chain [General function prediction only]
      TIGR00927
      Location:263555
      2A1904; K+-dependent Na+/Ca+ exchanger
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
    2. XM_011530458.3XP_011528760.1  unconventional myosin-XVIIIb isoform X1

      See identical proteins and their annotated locations for XP_011528760.1

      Conserved Domains (3) summary
      COG5022
      Location:5522129
      COG5022; Myosin heavy chain [General function prediction only]
      TIGR00927
      Location:263555
      2A1904; K+-dependent Na+/Ca+ exchanger
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
    3. XM_017029014.2XP_016884503.1  unconventional myosin-XVIIIb isoform X4

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

      Conserved Domains (7) summary
      smart00242
      Location:6081375
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14562132
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:6271363
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:114542
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:17881802
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:17221817
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:19222019
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    5. XM_047441551.1XP_047297507.1  unconventional myosin-XVIIIb isoform X5

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

      Conserved Domains (3) summary
      COG5022
      Location:5102085
      COG5022; Myosin heavy chain [General function prediction only]
      cd01386
      Location:5851321
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:201507
      Glutenin_hmw; High molecular weight glutenin subunit
    7. XM_011530466.3XP_011528768.1  unconventional myosin-XVIIIb isoform X8

      Conserved Domains (6) summary
      smart00242
      Location:6081376
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14452083
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam08537
      Location:14521580
      NBP1; Fungal Nap binding protein NBP1
      cd16269
      Location:17891803
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:17231818
      GBP_C; Guanylate-binding protein, C-terminal domain
    8. XM_011530459.3XP_011528761.1  unconventional myosin-XVIIIb isoform X1

      See identical proteins and their annotated locations for XP_011528761.1

      Conserved Domains (3) summary
      COG5022
      Location:5522129
      COG5022; Myosin heavy chain [General function prediction only]
      TIGR00927
      Location:263555
      2A1904; K+-dependent Na+/Ca+ exchanger
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
    9. XM_017029013.2XP_016884502.1  unconventional myosin-XVIIIb isoform X1

      Conserved Domains (3) summary
      COG5022
      Location:5522129
      COG5022; Myosin heavy chain [General function prediction only]
      TIGR00927
      Location:263555
      2A1904; K+-dependent Na+/Ca+ exchanger
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
    10. XM_011530460.3XP_011528762.1  unconventional myosin-XVIIIb isoform X2

      Conserved Domains (7) summary
      smart00242
      Location:6081376
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14572133
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:114542
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:17891803
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:17231818
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:19232020
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    11. XM_011530465.3XP_011528767.1  unconventional myosin-XVIIIb isoform X7

      Conserved Domains (3) summary
      COG5022
      Location:3911968
      COG5022; Myosin heavy chain [General function prediction only]
      cd01386
      Location:4661203
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:82388
      Glutenin_hmw; High molecular weight glutenin subunit
    12. XM_017029016.2XP_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_054326038.1XP_054182013.1  unconventional myosin-XVIIIb isoform X1

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

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

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

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

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

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

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

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

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

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

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