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MYO18B myosin XVIIIB [ Homo sapiens (human) ]

Gene ID: 84700, updated on 3-May-2020

Summary

Official Symbol
MYO18Bprovided by HGNC
Official Full Name
myosin XVIIIBprovided by HGNC
Primary source
HGNC:HGNC:18150
See related
Ensembl:ENSG00000133454 MIM:607295
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

Genomic context

See MYO18B in Genome Data Viewer
Location:
22q12.1
Exon count:
52
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (25742133..26063847)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26138117..26453345)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor kinase 3 Neighboring gene YES1 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 494 Neighboring gene MYO18B antisense RNA 1 Neighboring gene RN7SK pseudogene 169 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
  • 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 syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism
MedGen: C4225285 OMIM: 616549 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41942, DKFZp434C2422, DKFZp779C1668

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
motor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cardiac muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
filamentous actin IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
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)

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_046772.1 RefSeqGene

    Range
    5045..293902
    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
    UniProtKB/Swiss-Prot
    Q8IUG5
    UniProtKB/TrEMBL
    F5GXR6
    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
    Q8IUG5
    UniProtKB/TrEMBL
    A0A075B6F5
    Related
    ENSP00000334563.7, ENST00000335473.11
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    25742133..26063847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530466.2XP_011528768.1  unconventional myosin-XVIIIb isoform X7

    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
  2. XM_011530461.2XP_011528763.1  unconventional myosin-XVIIIb isoform X1

    See identical proteins and their annotated locations for XP_011528763.1

    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)
  3. XM_017029012.1XP_016884501.1  unconventional myosin-XVIIIb isoform X1

    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)
  4. XM_011530458.2XP_011528760.1  unconventional myosin-XVIIIb isoform X1

    See identical proteins and their annotated locations for XP_011528760.1

    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)
  5. XM_017029014.1XP_016884503.1  unconventional myosin-XVIIIb isoform X4

  6. XM_011530464.2XP_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)
  7. XM_017029015.1XP_016884504.1  unconventional myosin-XVIIIb isoform X5

  8. XM_017029017.1XP_016884506.1  unconventional myosin-XVIIIb isoform X9

  9. XM_011530459.2XP_011528761.1  unconventional myosin-XVIIIb isoform X1

    See identical proteins and their annotated locations for XP_011528761.1

    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)
  10. XM_017029013.1XP_016884502.1  unconventional myosin-XVIIIb isoform X1

    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_011530460.2XP_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)
  12. XM_011530465.2XP_011528767.1  unconventional myosin-XVIIIb isoform X6

    Conserved Domains (6) summary
    smart00242
    Location:4471215
    MYSc; Myosin. Large ATPases
    COG1196
    Location:12961972
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd01386
    Location:4661203
    MYSc_Myo18; class XVIII myosin, motor domain
    cd16269
    Location:16281642
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:15621657
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl23720
    Location:17621859
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  13. XM_017029016.1XP_016884505.1  unconventional myosin-XVIIIb isoform X8

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