MYO18A

myosin XVIIIA, the group of Myosin heavy chains, class XVIII|PDZ domain containing

Basic information

Region (hg38): 17:29071122-29180398

Previous symbols: [ "TIAF1" ]

Links

ENSG00000196535 ∙ NCBI:399687 ∙ OMIM:609517, 610067 ∙ HGNC:31104 ∙ Uniprot:O95411, Q92614 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 22.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_078471.4	NP_510880.2	41	yes	-
ENST00000527372.7	ENSP00000437073.1	41	yes	-
NM_203318.2	NP_976063.1	40	-	-
NM_001346765.2	NP_001333694.1	42	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYO18A gene.

• not_specified (304 variants)
• not_provided (29 variants)
• MYO18A-related_disorder (8 variants)
• sellar_metastasis_from_primary_bronchial_carcinoid_tumor (1 variants)
• Multiple_joint_contractures (1 variants)
• Prostate_cancer (1 variants)
• Abnormal_facial_shape (1 variants)
• Hydrops_fetalis (1 variants)
• Hereditary_hemochromatosis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO18A gene is commonly pathogenic or not. These statistics are base on transcript: NM_078471.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			8	6	12	26
missense			317	13	2	332
nonsense			2			2
start loss						0
frameshift			1	1		2
splice donor/acceptor (+/-2bp)			6			6
Total	0	0	334	20	14

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO18A	protein_coding	protein_coding	ENST00000527372	41	106903

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		124978	0	33	125011	0.000132

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.45	1000	1.24e+3	0.804	0.0000830	13298
Missense in Polyphen		386	524.63	0.73576		5592
Synonymous	1.89	449	503	0.893	0.0000319	3973
Loss of Function	7.49	20	101	0.197	0.00000530	1170

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000344	0.000338
Ashkenazi Jewish	0.0000994	0.0000994
East Asian	0.0000556	0.0000555
Finnish	0.00	0.00
European (Non-Finnish)	0.000187	0.000177
Middle Eastern	0.0000556	0.0000555
South Asian	0.0000654	0.0000654
Other	0.000330	0.000328

dbNSFP

Source: dbNSFP

• Function: 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). {ECO:0000250|UniProtKB:Q9JMH9, ECO:0000269|PubMed:16087679, ECO:0000269|PubMed:18854160, ECO:0000269|PubMed:19837035, ECO:0000269|PubMed:21123169, ECO:0000269|PubMed:23345592, ECO:0000269|PubMed:25965346, ECO:0000269|PubMed:27467939}.
• Pathway: Disease;Signaling by FGFR in disease;Signaling by cytosolic FGFR1 fusion mutants;FGFR1 mutant receptor activation;Signaling by FGFR1 in disease;Diseases of signal transduction (Consensus)

Recessive Scores

• pRec: 0.144

Intolerance Scores

• loftool: 0.118
• rvis_EVS: -1.62
• rvis_percentile_EVS: 2.9

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.854

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Zebrafish Information Network

• Gene name: myo18aa
• Affected structure: muscle cell
• Phenotype tag: abnormal
• Phenotype quality: disorganized

Gene ontology

• Biological process: DNA metabolic process;Golgi organization;cell migration;actomyosin structure organization;regulation of macrophage activation;negative regulation of apoptotic process;Golgi vesicle budding;positive regulation of protein secretion;Golgi ribbon formation;asymmetric Golgi ribbon formation;positive regulation of opsonization
• Cellular component: Golgi membrane;endoplasmic reticulum-Golgi intermediate compartment;trans-Golgi network;cell surface;membrane;myosin complex;actomyosin
• Molecular function: DNA binding;RNA binding;protein binding;ATP binding;ATPase activity;ADP binding;actin filament binding