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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 Nemaline Myopathy And Facial Dysmorphism and Klippel-Feil Syndrome. Among its related pathways are ERK Signaling and Actin Nucleation by ARP-WASP Complex. Gene Ontology (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

Additional gene information for MYO18B Gene

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

Genomics for MYO18B Gene

GeneHancer (GH) Regulatory Elements for MYO18B Gene

Promoters and enhancers for MYO18B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J025741 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 660.5 +4.6 4594 10.7 PKNOX1 SMAD1 FOXA2 IRF4 YY1 POLR2B ZNF766 FOS ZNF263 JUNB MYO18B ENSG00000278960
GH22J025757 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 650.4 +18.4 18354 5.9 ATF1 PKNOX1 FOXA2 ARNT GTF3C2 TCF12 GATA2 ATF7 NCOA1 PPARG MYO18B SRRD MIATNB HPS4 TFIP11 GRK3 ENSG00000278960 LOC105372963
GH22J025740 Enhancer 0.5 dbSUPER 650.7 -1.2 -1205 0.6 SOX5 SOX13 ZBTB33 FOXP1 MYO18B RNA5SP494
GH22J025773 Enhancer 0.9 ENCODE dbSUPER 11.7 +31.0 30975 0.2 BCOR CTCF BACH1 ZMYM3 KLF5 RAD21 ZNF664 ZNF121 ZNF207 SMC3 MYO18B ENSG00000278960 LOC105372963
GH22J025764 Enhancer 0.7 ENCODE dbSUPER 13.4 +22.9 22943 1 BCOR ESRRA CBX1 ZMYM3 CTBP2 KDM1A MYO18B ENSG00000278960 LOC105372963
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO18B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYO18B gene promoter:
  • p300
  • AP-4
  • AML1a
  • SEF-1 (1)
  • c-Jun
  • c-Fos
  • AP-1
  • RSRFC4
  • FOXO4
  • SRY

Genomic Locations for MYO18B Gene

Genomic Locations for MYO18B Gene
chr22:25,742,144-26,058,788
(GRCh38/hg38)
Size:
316,645 bases
Orientation:
Plus strand
chr22:26,138,111-26,427,007
(GRCh37/hg19)
Size:
288,897 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:
    • A0A075B6F5
    • B2RWP3
    • F5GXR6
    • F5GYU7
    • Q8NDI8
    • Q8TE65
    • Q8WWS0
    • Q96KH2
    • Q96KR8
    • Q96KR9

    Protein attributes for MYO18B Gene

    Size:
    2567 amino acids
    Molecular mass:
    285215 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

No data available for DME Specific Peptides for MYO18B Gene

Domains & Families for MYO18B Gene

Gene Families for MYO18B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
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.

Phenotypes From GWAS Catalog for MYO18B Gene

Gene Ontology (GO) - Molecular Function for MYO18B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein 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

Human Phenotype Ontology for MYO18B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYO18B Gene

MGI Knock Outs for MYO18B:

Animal Model Products

miRNA for MYO18B Gene

miRTarBase miRNAs that target MYO18B

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYO18B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0016459 myosin complex IEA --
GO:0016461 unconventional myosin complex IDA 12547197
GO:0030017 sarcomere 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:0007018 microtubule-based movement 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

mRNA/cDNA for MYO18B Gene

Unigene Clusters for MYO18B Gene

Myosin XVIIIB:
Representative Sequences:

Clone 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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for MYO18B Gene

  • Muscle(4.5)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with MYO18B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 94.71 (n)
dog
(Canis familiaris)
Mammalia MYO18B 34 33
  • 84.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYO18B 34 33
  • 83.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myo18b 33
  • 78.04 (n)
mouse
(Mus musculus)
Mammalia Myo18b 16 34 33
  • 77.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 68 (a)
OneToMany
-- 34
  • 66 (a)
OneToMany
-- 34
  • 47 (a)
OneToMany
-- 34
  • 44 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MYO18B 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO18B 34 33
  • 64.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYO18B 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo18b 33
  • 60.77 (n)
zebrafish
(Danio rerio)
Actinopterygii MYO18B (3 of 4) 34
  • 61 (a)
OneToMany
CABZ01073112.1 34
  • 48 (a)
OneToMany
CABZ01087088.1 34
  • 35 (a)
OneToMany
MYO18B (1 of 4) 34
  • 18 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mhcl 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYO18B: view image

Paralogs for MYO18B Gene

Paralogs for MYO18B Gene

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

  • MY18B_HUMAN
  • F5GXR6_HUMAN
  • F5H6I8_HUMAN
  • H0YGQ4_HUMAN
  • L8EAK4_HUMAN
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 Variation AA Info Type
rs556752387 pathogenic, Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 26,026,879(+) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, stop_gained
rs869312740 pathogenic, Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 26,026,470(+) G/T coding_sequence_variant, genic_downstream_transcript_variant, stop_gained
VAR_015862 A lung small cell carcinoma sample p.Gly234Val
VAR_015863 A lung small cell carcinoma sample p.Lys347Asn
VAR_015864 A lung small cell carcinoma sample p.Arg379Gln

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
nsv1066595 CNV gain 25217958
nsv1067162 CNV gain 25217958
nsv1116950 CNV deletion 24896259
nsv1136351 CNV deletion 24896259
nsv475736 CNV novel sequence insertion 20440878
nsv513586 CNV insertion 21212237
nsv588868 CNV gain 21841781
nsv588869 CNV loss 21841781
nsv7350 OTHER inversion 18451855

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)

Additional Variant Information 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

(5) MalaCards diseases for MYO18B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism
  • kfs4
klippel-feil syndrome
  • kfs
lung large cell carcinoma
  • large cell carcinoma of lung
myopathy
  • muscular diseases
lung cancer
  • lung cancer, susceptibility to
- 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.

Additional Disease Information for MYO18B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Journal of molecular biology 2003) 2 3 4 22 58
  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 (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4 22 58
  3. Genetic alterations responsible for metastatic phenotypes of lung cancer cells. (PMID: 12741677) Yokota J … Kohno T (Clinical & experimental metastasis 2003) 3 4 22 58
  4. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. (PMID: 25748484) Alazami AM … Alkuraya FS (Journal of medical genetics 2015) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for MYO18B Gene

Sources for MYO18B Gene

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