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Aliases for MYO18B Gene

Aliases for MYO18B Gene

  • Myosin XVIIIB 2 3 5
  • Unconventional Myosin-XVIIIb 3
  • Myosin 18B 3
  • KFS4 3

External Ids for MYO18B Gene

Previous GeneCards Identifiers for MYO18B Gene

  • GC22P022834
  • GC22P024462
  • GC22P026138
  • GC22P009085

Summaries for MYO18B Gene

Entrez Gene Summary for MYO18B Gene

  • 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]

GeneCards Summary for MYO18B Gene

MYO18B (Myosin XVIIIB) is a Protein Coding gene. Diseases associated with MYO18B include Klippel-Feil Syndrome 4, Autosomal Recessive, With Myopathy And Facial Dysmorphism and Klippel-Feil Syndrome 4. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and ERK Signaling. GO annotations related to this gene include nucleotide binding and motor activity. An important paralog of this gene is MYO18A.

UniProtKB/Swiss-Prot for MYO18B Gene

  • May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. May play a role in the control of tumor development and progression; restored MYO18B expression in lung cancer cells suppresses anchorage-independent growth.

Gene Wiki entry for MYO18B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO18B Gene

Genomics for MYO18B Gene

Regulatory Elements for MYO18B Gene

Enhancers for MYO18B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F025741 1.6 FANTOM5 Ensembl ENCODE 10.6 +4.6 4594 10.7 ATF1 YBX1 YY1 ELK1 FOS ZMIZ1 JUNB REST PPARG MBD2 MYO18B ENSG00000278960
GH22F025700 0.8 Ensembl ENCODE 11.6 -41.0 -40996 1.6 RFX1 SMARCA4 POLR2A ZNF384 REST BMI1 RAD21 MYO18B ENSG00000237387 YES1P1 RNA5SP494
GH22F025773 0.8 ENCODE 11.6 +31.0 30975 0.2 BCOR CTCF ZMYM3 RAD21 ZNF121 ZNF664 ZNF143 SMC3 ZNF207 NFE2 MYO18B ENSG00000278960 LOC105372963
GH22F025764 0.6 ENCODE 13.4 +22.9 22943 1.0 BCOR ESRRA ZMYM3 CTBP2 ZNF16 MYO18B ENSG00000278960 LOC105372963
GH22F026331 0.7 ENCODE 10.5 +589.0 589026 0.2 CTCF WRNIP1 MAX CEBPG RAD21 RFX5 ZNF143 SMC3 ZNF654 HLF LOC105372963 MYO18B SEZ6L RNA5SP495 LOC105372974
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYO18B on UCSC Golden Path with GeneCards custom track

Promoters for MYO18B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001842510 656 1601 TBP HDAC1 TBL1XR1 NFXL1 ELK1 EGR2 SMARCA5 SMAD5 REST POLR2H

Genomic Location for MYO18B Gene

Chromosome:
22
Start:
25,742,144 bp from pter
End:
26,058,788 bp from pter
Size:
316,645 bases
Orientation:
Plus strand

Genomic View for MYO18B Gene

Genes around MYO18B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO18B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO18B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO18B Gene

Proteins for MYO18B Gene

  • Protein details for MYO18B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUG5-MY18B_HUMAN
    Recommended name:
    Unconventional myosin-XVIIIb
    Protein Accession:
    Q8IUG5
    Secondary Accessions:
    • B2RWP3
    • F5GYU7
    • Q8NDI8
    • Q8TE65
    • Q8WWS0
    • Q96KH2
    • Q96KR8
    • Q96KR9

    Protein attributes for MYO18B Gene

    Size:
    2567 amino acids
    Molecular mass:
    285185 Da
    Quaternary structure:
    • Homodimer. May interact with F actin through the GPA motif (Gly/Pro/Ala-rich).
    Miscellaneous:
    • Frequently deleted, mutated, and hypermethylated in lung cancers.

    Alternative splice isoforms for MYO18B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO18B Gene

Post-translational modifications for MYO18B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for MYO18B Gene

Domains & Families for MYO18B Gene

Gene Families for MYO18B Gene

Suggested Antigen Peptide Sequences for MYO18B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUG5

UniProtKB/Swiss-Prot:

MY18B_HUMAN :
  • Contains 1 IQ domain.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • Contains 1 IQ domain.
  • Contains 1 myosin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO18B: view

Function for MYO18B Gene

Molecular function for MYO18B Gene

UniProtKB/Swiss-Prot Function:
May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. May play a role in the control of tumor development and progression; restored MYO18B expression in lung cancer cells suppresses anchorage-independent growth.

Gene Ontology (GO) - Molecular Function for MYO18B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MYO18B: view
genes like me logo Genes that share phenotypes with MYO18B: view

Animal Models for MYO18B Gene

MGI Knock Outs for MYO18B:

Animal Model Products

miRNA for MYO18B Gene

miRTarBase miRNAs that target MYO18B

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYO18B Gene

Localization for MYO18B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO18B Gene

Cytoplasm. Nucleus. Cytoplasm, myofibril, sarcomere. Note=Punctate pattern in undifferentiated myoblasts. Nuclear, on primary cardiomyocytes and adult muscle. A partial sarcomeric location was found in some cardiomyocytes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYO18B gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for MYO18B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
GO:0016459 myosin complex IEA --
genes like me logo Genes that share ontologies with MYO18B: view

Pathways & Interactions for MYO18B Gene

genes like me logo Genes that share pathways with MYO18B: view

Gene Ontology (GO) - Biological Process for MYO18B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0048739 cardiac muscle fiber development IEA --
genes like me logo Genes that share ontologies with MYO18B: view

No data available for SIGNOR curated interactions for MYO18B Gene

Drugs & Compounds for MYO18B Gene

(1) Additional Compounds for MYO18B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYO18B: view

Transcripts for MYO18B Gene

Unigene Clusters for MYO18B Gene

Myosin XVIIIB:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYO18B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32a · 32b · 32c ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40a · 40b ^ 41 ^ 42 ^ 43 ^ 44a · 44b ^ 45a ·
SP1: - - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - -
SP6: -
SP7:

Relevant External Links for MYO18B Gene

GeneLoc Exon Structure for
MYO18B
ECgene alternative splicing isoforms for
MYO18B

Expression for MYO18B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYO18B Gene

mRNA differential expression in normal tissues according to GTEx for MYO18B Gene

This gene is overexpressed in Muscle - Skeletal (x29.9), Heart - Left Ventricle (x11.5), and Heart - Atrial Appendage (x6.4).

Protein differential expression in normal tissues from HIPED for MYO18B Gene

This gene is overexpressed in Prostate (58.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYO18B Gene



NURSA nuclear receptor signaling pathways regulating expression of MYO18B Gene:

MYO18B

SOURCE GeneReport for Unigene cluster for MYO18B Gene:

Hs.417959

mRNA Expression by UniProt/SwissProt for MYO18B Gene:

Q8IUG5-MY18B_HUMAN
Tissue specificity: Selectively expressed in cardiac and skeletal muscles. Weakly expressed in testis, pancreas, placenta, prostate, lung and thymus.
genes like me logo Genes that share expression patterns with MYO18B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for MYO18B Gene

Orthologs for MYO18B Gene

This gene was present in the common ancestor of animals.

Orthologs for MYO18B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYO18B 34
  • 94.71 (n)
dog
(Canis familiaris)
Mammalia MYO18B 34 35
  • 84.68 (n)
cow
(Bos Taurus)
Mammalia MYO18B 34 35
  • 83.29 (n)
rat
(Rattus norvegicus)
Mammalia Myo18b 34
  • 78.04 (n)
mouse
(Mus musculus)
Mammalia Myo18b 34 16 35
  • 77.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 68 (a)
OneToMany
-- 35
  • 66 (a)
OneToMany
-- 35
  • 47 (a)
OneToMany
-- 35
  • 44 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MYO18B 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO18B 34 35
  • 64.54 (n)
lizard
(Anolis carolinensis)
Reptilia MYO18B 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo18b 34
  • 60.77 (n)
zebrafish
(Danio rerio)
Actinopterygii MYO18B (3 of 4) 35
  • 61 (a)
OneToMany
CABZ01073112.1 35
  • 48 (a)
OneToMany
CABZ01087088.1 35
  • 35 (a)
OneToMany
MYO18B (1 of 4) 35
  • 18 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mhcl 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
ManyToMany
Species where no ortholog for MYO18B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYO18B Gene

ENSEMBL:
Gene Tree for MYO18B (if available)
TreeFam:
Gene Tree for MYO18B (if available)

Paralogs for MYO18B Gene

Paralogs for MYO18B Gene

(7) SIMAP similar genes for MYO18B Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MYO18B: view

Variants for MYO18B Gene

Sequence variations from dbSNP and Humsavar for MYO18B Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs5761170 A lung adenocarcinoma sample 25,777,694(+) TGGGC(C/T)GGAGT reference, missense, utr-variant-5-prime
VAR_015862 A lung small cell carcinoma sample
VAR_015863 A lung small cell carcinoma sample
VAR_015864 A lung small cell carcinoma sample
VAR_015865 A lung adenocarcinoma sample

Structural Variations from Database of Genomic Variants (DGV) for MYO18B Gene

Variant ID Type Subtype PubMed ID
esv2593623 CNV insertion 19546169
esv2724089 CNV deletion 23290073
esv2751952 CNV gain 17911159
esv275572 CNV gain+loss 21479260
esv2758830 CNV gain 17122850
esv3348741 CNV duplication 20981092
esv3568322 CNV loss 25503493
nsv7350 OTHER inversion 18451855
nsv588869 CNV loss 21841781
nsv588868 CNV gain 21841781
nsv513586 CNV insertion 21212237
nsv475736 CNV novel sequence insertion 20440878
nsv1136351 CNV deletion 24896259
nsv1116950 CNV deletion 24896259
nsv1067162 CNV gain 25217958
nsv1066595 CNV gain 25217958

Variation tolerance for MYO18B Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.91; 96.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYO18B Gene

Human Gene Mutation Database (HGMD)
MYO18B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO18B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO18B Gene

Disorders for MYO18B Gene

MalaCards: The human disease database

(4) MalaCards diseases for MYO18B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
  • klippel-feil anomaly-myopathy-facial dysmorphism syndrome
klippel-feil syndrome 4
  • klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
lung large cell carcinoma
  • large cell carcinoma of lung
lung cancer
  • lung cancer, protection against
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MY18B_HUMAN
  • Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism (KFS4) [MIM:616549]: A form of Klippel-Feil syndrome, a skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. KFS4 features additionally include myopathy, mild short stature, microcephaly, and distinctive facies. {ECO:0000269 PubMed:25748484}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYO18B

Genetic Association Database (GAD)
MYO18B
Human Genome Epidemiology (HuGE) Navigator
MYO18B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYO18B
genes like me logo Genes that share disorders with MYO18B: view

No data available for Genatlas for MYO18B Gene

Publications for MYO18B Gene

  1. Human MYO18B, a novel unconventional myosin heavy chain expressed in striated muscles moves into the myonuclei upon differentiation. (PMID: 12547197) Salamon M. … Lanfranchi G. (J. Mol. Biol. 2003) 2 3 4 22 64
  2. MYO18B, a candidate tumor suppressor gene at chromosome 22q12.1, deleted, mutated, and methylated in human lung cancer. (PMID: 12209013) Nishioka M. … Yokota J. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4 22 64
  3. Genetic alterations responsible for metastatic phenotypes of lung cancer cells. (PMID: 12741677) Yokota J. … Kohno T. (Clin. Exp. Metastasis 2003) 3 4 22 64
  4. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. (PMID: 25748484) Alazami A.M. … Alkuraya F.S. (J. Med. Genet. 2015) 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for MYO18B Gene

Sources for MYO18B Gene

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