The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 2016] See more...

Aliases for MYO18A Gene

Aliases for MYO18A Gene

  • Myosin XVIIIA 2 3 5
  • Molecule Associated With JAK3 N-Terminus 3 4
  • Surfactant Protein Receptor SP-R210 3 4
  • Myosin Containing A PDZ Domain 3 4
  • Unconventional Myosin-XVIIIa 3 4
  • KIAA0216 2 4
  • SP-R210 3 4
  • MYSPDZ 3 4
  • MAJN 3 4
  • SP-A Receptor Subunit SP-R210 AlphaS 3
  • Myosin Containing PDZ Domain 3
  • Myosin 18A 3
  • SPR210 3
  • MYO18A 5
  • MysPDZ 2
  • CD245 4

External Ids for MYO18A Gene

Previous GeneCards Identifiers for MYO18A Gene

  • GC17M027547
  • GC17M024425
  • GC17M027400
  • GC17M023608
  • GC17M029073
  • GC17M029289
  • GC17M029392
  • GC17M029410
  • GC17M029707
  • GC17M029075
  • GC17M029169
  • GC17M029258

Summaries for MYO18A Gene

Entrez Gene Summary for MYO18A Gene

  • The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 2016]

GeneCards Summary for MYO18A Gene

MYO18A (Myosin XVIIIA) is a Protein Coding gene. Diseases associated with MYO18A include 8P11 Myeloproliferative Syndrome and Myeloproliferative Neoplasm. Among its related pathways are Signaling by FGFR2 in disease and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include actin filament binding. An important paralog of this gene is MYH10.

UniProtKB/Swiss-Prot Summary for MYO18A Gene

  • May link Golgi membranes to the cytoskeleton and participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus (PubMed:19837035, PubMed:23345592). Alternatively, in concert with LURAP1 and CDC42BPA/CDC42BPB, has been involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). May be involved in the maintenance of the stromal cell architectures required for cell to cell contact (By similarity). Regulates trafficking, expression, and activation of innate immune receptors on macrophages. Plays a role to suppress inflammatory responsiveness of macrophages via a mechanism that modulates CD14 trafficking (PubMed:25965346). Acts as a receptor of surfactant-associated protein A (SFTPA1/SP-A) and plays an important role in internalization and clearance of SFTPA1-opsonized S.aureus by alveolar macrophages (PubMed:16087679, PubMed:21123169). Strongly enhances natural killer cell cytotoxicity (PubMed:27467939).

Gene Wiki entry for MYO18A Gene

Additional gene information for MYO18A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYO18A Gene

Genomics for MYO18A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYO18A 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
GH17J029175 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 631.8 +1.8 1795 5.7 HNRNPL GATAD2A CTCF ZNF629 REST RFX1 LEF1 IKZF1 NFKBIZ KDM1A MYO18A TMEM199 IFT20 TIAF1 ENSG00000265474 TLCD1 TRAF4 GIT1 lnc-TIAF1-3
GH17J029136 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 639.7 +40.8 40814 5.8 LARP7 ZIC2 PKNOX1 POLR2A ZNF24 IKZF2 ZNF600 YY1 EED NRF1 MYO18A ENSG00000263709 TIAF1 RAB34 lnc-TIAF1-2 lnc-TIAF1-3
GH17J029212 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 637.5 -33.6 -33570 7.6 ATF7 KDM1A ZNF143 PHF21A ZSCAN4 PKNOX1 MTA1 BRD9 SCRT2 NKRF MYO18A ANKRD13B CRYBA1 TIAF1 PROCA1 RAB34 TAOK1 NEK8 GIT1 RF00017-2328
GH17J029071 Promoter/Enhancer 0.9 EPDnew Ensembl dbSUPER 617 +107.4 107412 2.4 PRDM10 RBM22 POLR2A ZNF366 MYO18A lnc-MYO18A-2 SEZ6 TIAF1
GH17J029074 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.1 +106.1 106063 0.1 MYO18A SEZ6 TIAF1 lnc-MYO18A-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO18A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYO18A

Top Transcription factor binding sites by QIAGEN in the MYO18A gene promoter:
  • FAC1
  • MyoD
  • Nkx5-1
  • Pax-4a
  • Pax-5
  • Sp1
  • Spz1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for MYO18A Gene

Genomic Locations for MYO18A Gene
chr17:29,071,122-29,180,412
(GRCh38/hg38)
Size:
109,291 bases
Orientation:
Minus strand
chr17:27,400,528-27,507,430
(GRCh37/hg19)
Size:
106,903 bases
Orientation:
Minus strand

Genomic View for MYO18A Gene

Genes around MYO18A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO18A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO18A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO18A Gene

Proteins for MYO18A Gene

  • Protein details for MYO18A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92614-MY18A_HUMAN
    Recommended name:
    Unconventional myosin-XVIIIa
    Protein Accession:
    Q92614
    Secondary Accessions:
    • Q5H9U3
    • Q5QD01
    • Q5W9F9
    • Q5W9G1
    • Q8IXP8

    Protein attributes for MYO18A Gene

    Size:
    2054 amino acids
    Molecular mass:
    233115 Da
    Quaternary structure:
    • Homodimer. Forms a tripartite complex with CDC42BPA/CDC42BPB and LURAP1 with the latter acting as an adapter connecting CDC42BPA/CDC42BPB and MYO18A. Binds F-actin; regulated by ADP and GOLPH3. Interacts with GOLPH3; the interaction is direct and may link Golgi membranes to the actin cytoskeleton. Interacts with JAK3. Interacts with MSR1 and CD14 (PubMed:25965346). Isoform 5 interacts with CD11B (PubMed:25965346).
    SequenceCaution:
    • Sequence=BAA13206.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD66838.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MYO18A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO18A Gene

Post-translational modifications for MYO18A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for MYO18A
  • Boster Bio Antibodies for MYO18A

No data available for DME Specific Peptides for MYO18A Gene

Domains & Families for MYO18A Gene

Gene Families for MYO18A Gene

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

Protein Domains for MYO18A Gene

Suggested Antigen Peptide Sequences for MYO18A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59676, highly similar to Myosin-18A (B4DFN7_HUMAN)
  • Myosin containing a PDZ domain (MY18A_HUMAN)
  • SP-A receptor subunit SP-R210 alphaS (Q5QD01_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92614

UniProtKB/Swiss-Prot:

MY18A_HUMAN :
  • The myosin motor domain binds ADP and ATP but has no intrinsic ATPase activity. Mediates ADP-dependent binding to actin (PubMed:23990465).
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • The myosin motor domain binds ADP and ATP but has no intrinsic ATPase activity. Mediates ADP-dependent binding to actin (PubMed:23990465).
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO18A: view

Function for MYO18A Gene

Molecular function for MYO18A Gene

UniProtKB/Swiss-Prot Function:
May link Golgi membranes to the cytoskeleton and participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus (PubMed:19837035, PubMed:23345592). Alternatively, in concert with LURAP1 and CDC42BPA/CDC42BPB, has been involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). May be involved in the maintenance of the stromal cell architectures required for cell to cell contact (By similarity). Regulates trafficking, expression, and activation of innate immune receptors on macrophages. Plays a role to suppress inflammatory responsiveness of macrophages via a mechanism that modulates CD14 trafficking (PubMed:25965346). Acts as a receptor of surfactant-associated protein A (SFTPA1/SP-A) and plays an important role in internalization and clearance of SFTPA1-opsonized S.aureus by alveolar macrophages (PubMed:16087679, PubMed:21123169). Strongly enhances natural killer cell cytotoxicity (PubMed:27467939).

Phenotypes From GWAS Catalog for MYO18A Gene

Gene Ontology (GO) - Molecular Function for MYO18A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding HDA 22681889
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with MYO18A: view
genes like me logo Genes that share phenotypes with MYO18A: view

Animal Models for MYO18A Gene

MGI Knock Outs for MYO18A:
  • Myo18a Myo18a<tm1b(KOMP)Wtsi>
  • Myo18a Myo18a<tm1a(KOMP)Wtsi>
  • Myo18a Myo18a<tm1d(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for MYO18A Gene

miRTarBase miRNAs that target MYO18A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO18A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYO18A Gene

Localization for MYO18A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO18A Gene

Golgi apparatus. Golgi apparatus, trans-Golgi network. Postsynaptic Golgi apparatus. Cytoplasm, cytoskeleton, microtubule organizing center. Note=Recruited to the Golgi apparatus by GOLPH3 (PubMed:19837035). Localizes to the postsynaptic Golgi apparatus region, also named Golgi outpost, which shapes dendrite morphology by functioning as sites of acentrosomal microtubule nucleation (By similarity). {ECO:0000250 UniProtKB:D3ZFD0, ECO:0000269 PubMed:19837035}.
[Isoform 1]: Endoplasmic reticulum-Golgi intermediate compartment. Cytoplasm, cytoskeleton. Note=Colocalizes with actin. {ECO:0000250 UniProtKB:Q9JMH9}.
[Isoform 2]: Cytoplasm. Note=Lacks the PDZ domain (PubMed:12761286). Diffusely localized in the cytoplasm (PubMed:12761286). {ECO:0000269 PubMed:12761286}.
[Isoform 5]: Cell surface.

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 MYO18A gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
nucleus 4
cytosol 3
plasma membrane 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MYO18A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 19837035
genes like me logo Genes that share ontologies with MYO18A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYO18A Gene

Pathways & Interactions for MYO18A Gene

genes like me logo Genes that share pathways with MYO18A: view

Gene Ontology (GO) - Biological Process for MYO18A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006259 DNA metabolic process IEA --
GO:0007030 Golgi organization IMP 19837035
GO:0016477 cell migration IMP 18854160
GO:0031032 actomyosin structure organization IMP 18854160
GO:0043030 regulation of macrophage activation IMP 25965346
genes like me logo Genes that share ontologies with MYO18A: view

No data available for SIGNOR curated interactions for MYO18A Gene

Drugs & Compounds for MYO18A Gene

(1) Drugs for MYO18A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MYO18A: view

Transcripts for MYO18A Gene

mRNA/cDNA for MYO18A Gene

6 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO18A

Alternative Splicing Database (ASD) splice patterns (SP) for MYO18A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b · 16c · 16d ^ 17a ·
SP1: - - - - - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - - -
SP4:
SP5: - - - - - - - - - - -
SP6: - - - - - -
SP7: - - - - - -
SP8: - - - - - - - - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37a ·
SP1: - - -
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 37b ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45a · 45b ^ 46 ^ 47 ^ 48a · 48b ^ 49a · 49b ^ 50a · 50b · 50c · 50d ^ 51 ^ 52 ^ 53a · 53b · 53c
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - -
SP13: -
SP14: - -
SP15: - - - - -
SP16:
SP17: -
SP18:

Relevant External Links for MYO18A Gene

GeneLoc Exon Structure for
MYO18A

Expression for MYO18A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYO18A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYO18A Gene

This gene is overexpressed in Muscle - Skeletal (x7.7).

Protein differential expression in normal tissues from HIPED for MYO18A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.8), Cervix (7.4), and Pancreas (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYO18A Gene



Protein tissue co-expression partners for MYO18A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYO18A

SOURCE GeneReport for Unigene cluster for MYO18A Gene:

Hs.462590

Evidence on tissue expression from TISSUES for MYO18A Gene

  • Nervous system(4.8)
  • Blood(4.6)
  • Liver(4.5)
  • Muscle(2.9)
  • Heart(2.6)
  • Skin(2.5)
  • Intestine(2.2)
  • Bone marrow(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with MYO18A: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO18A Gene

Orthologs for MYO18A Gene

This gene was present in the common ancestor of animals.

Orthologs for MYO18A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYO18A 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MYO18A 30 31
  • 91.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYO18A 30 31
  • 90.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myo18a 30
  • 89 (n)
Mouse
(Mus musculus)
Mammalia Myo18a 30 17 31
  • 88.71 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MYO18A 31
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYO18A 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYO18A 30 31
  • 80.87 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYO18A 31
  • 81 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii myo18ab 30 31
  • 74.51 (n)
OneToMany
myo18aa 31
  • 58 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011138 30
  • 51.84 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Mhcl 30 31
  • 51.82 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
ManyToMany
Species where no ortholog for MYO18A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MYO18A Gene

ENSEMBL:
Gene Tree for MYO18A (if available)
TreeFam:
Gene Tree for MYO18A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYO18A: view image

Paralogs for MYO18A Gene

(13) SIMAP similar genes for MYO18A Gene using alignment to 6 proteins:

  • MY18A_HUMAN
  • E9PN42_HUMAN
  • H0YEV9_HUMAN
  • J3KNX9_HUMAN
  • K7EKB3_HUMAN
  • Q5QD01_HUMAN
genes like me logo Genes that share paralogs with MYO18A: view

Variants for MYO18A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYO18A Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
721596 Benign: not provided 29,121,649(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
727937 Benign: not provided 29,121,017(-) G/A SYNONYMOUS_VARIANT
733892 Benign: not provided 29,086,957(-) C/T SYNONYMOUS_VARIANT
739030 Benign: not provided 29,086,488(-) A/G SYNONYMOUS_VARIANT
768864 Benign: not provided 29,074,043(-) C/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for MYO18A Gene

Structural Variations from Database of Genomic Variants (DGV) for MYO18A Gene

Variant ID Type Subtype PubMed ID
esv3554290 CNV deletion 23714750
esv3640320 CNV loss 21293372
nsv2020 CNV deletion 18451855
nsv833408 CNV loss 17160897
nsv953872 CNV deletion 24416366

Variation tolerance for MYO18A Gene

Residual Variation Intolerance Score: 24.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.77; 66.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYO18A Gene

Human Gene Mutation Database (HGMD)
MYO18A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO18A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO18A Gene

Disorders for MYO18A Gene

MalaCards: The human disease database

(3) MalaCards diseases for MYO18A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
8p11 myeloproliferative syndrome
  • chromosome 8p11 myeloproliferative syndrome
myeloproliferative neoplasm
  • campomelic dysplasia
bardet-biedl syndrome 1
  • bbs1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MYO18A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MYO18A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYO18A Gene

Publications for MYO18A Gene

  1. The N-terminal domain of MYO18A has an ATP-insensitive actin-binding site. (PMID: 15835906) Isogawa Y … Sutoh K (Biochemistry 2005) 3 4 23
  2. Genome structure and differential expression of two isoforms of a novel PDZ-containing myosin (MysPDZ) (Myo18A). (PMID: 12761286) Mori K … Obinata M (Journal of biochemistry 2003) 2 3 4
  3. SP-R210 (Myo18A) Isoforms as Intrinsic Modulators of Macrophage Priming and Activation. (PMID: 25965346) Yang L … Chroneos ZC (PloS one 2015) 3 4
  4. GOLPH3L antagonizes GOLPH3 to determine Golgi morphology. (PMID: 23345592) Ng MM … Field SJ (Molecular biology of the cell 2013) 3 4
  5. Functional characterization of human myosin-18A and its interaction with F-actin and GOLPH3. (PMID: 23990465) Taft MH … Manstein DJ (The Journal of biological chemistry 2013) 3 4

Products for MYO18A Gene

  • Signalway ELISA kits for MYO18A

Sources for MYO18A Gene