MYO18A

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

Basic information

Region (hg38): 17:29071121-29180398

Previous symbols: [ "TIAF1" ]

Links

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

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• Inborn genetic diseases (94 variants)
• not provided (26 variants)
• Hydrops fetalis;Multiple joint contractures;Abnormal facial shape (1 variants)
• MYO18A-related condition (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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	12	15
missense			92	6	2	100
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding			2	1	2	5
Total	0	0	95	10	16

Variants in MYO18A

This is a list of pathogenic ClinVar variants found in the MYO18A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-29074004-A-C		not specified	Uncertain significance (Apr 06, 2022)
17-29074028-C-T		not specified	Likely benign (Oct 05, 2023)
17-29074043-C-T			Benign (May 30, 2018)
17-29074058-A-C		not specified	Uncertain significance (Jun 29, 2023)
17-29074062-T-C			Benign (Apr 10, 2018)
17-29074087-G-A		not specified	Uncertain significance (Jul 14, 2021)
17-29074099-C-T		not specified	Uncertain significance (May 24, 2023)
17-29074107-A-T		not specified	Uncertain significance (Jan 03, 2024)
17-29074127-G-A		not specified	Likely benign (Mar 21, 2023)
17-29074165-G-A		not specified	Uncertain significance (Dec 19, 2023)
17-29074193-A-G		not specified	Uncertain significance (Jan 04, 2024)
17-29074799-CTG-C		MYO18A-related disorder	Likely benign (Feb 10, 2022)
17-29074804-TCG-T			Uncertain significance (Mar 30, 2021)
17-29074834-C-T		not specified	Uncertain significance (Apr 07, 2023)
17-29074837-G-A		not specified	Uncertain significance (Nov 17, 2022)
17-29074854-G-A			Likely benign (May 18, 2018)
17-29074862-C-T			Likely benign (Sep 01, 2022)
17-29074872-A-T		not specified	Uncertain significance (Feb 27, 2023)
17-29074880-G-A		not specified	Uncertain significance (Jul 13, 2021)
17-29074903-T-A		not specified	Uncertain significance (Sep 20, 2023)
17-29082407-C-T		not specified	Uncertain significance (Aug 08, 2023)
17-29086488-A-G			Benign (Dec 31, 2019)
17-29086510-T-C		not specified	Uncertain significance (Dec 16, 2022)
17-29086536-C-A			Likely benign (Sep 01, 2022)
17-29086942-G-A			Benign (Jul 13, 2018)

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
0.987	0.0128	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

Haploinsufficiency Scores

• pHI: 0.453
• hipred: Y
• hipred_score: 0.736
• ghis: 0.556

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

Mouse Genome Informatics

• Gene name: Myo18a
• Phenotype: vision/eye phenotype; limbs/digits/tail phenotype; liver/biliary system phenotype; embryo phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); growth/size/body region phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

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