MYO1G

protein-coding

myosin IG, the group of Myosin heavy chains, class I|Minor histocompatibility antigens

Gene summary

MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010]

MANE transcript

NM_033054.3

Inheritance

—

ClinVar variants

U:182B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.46

Max pathogenic AF

—

Genomic locus

chr7:44,962,662-44,979,088

External References & Databases

Ensembl (ENSG00000136286)

Transcript & Mutation Effects

hg38 • Region Span ~16.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYO1G variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 173

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_033054.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	2 clinvar		4
missense			177 clinvar	3 clinvar		180
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	182	5	0	187

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_033054.3	RefSeq	NP_149043.2	22	MANE Select
ENST00000258787.12	Ensembl	ENSP00000258787.7	22	MANE Select
ENST00000464434.1	Ensembl	ENSP00000419847.1	6	Standard
ENST00000495831.5	Ensembl	ENSP00000417650.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

T cell mediated immunity
exocytosis
cell-substrate adhesion
Fc-gamma receptor signaling pathway involved in phagocytosis
cell gliding

Molecular Function

motor activity
actin binding
calmodulin binding
ATP binding
phosphatidylinositol-4,5-bisphosphate binding

Cellular Component

phagocytic cup
plasma membrane
microvillus
membrane
myosin complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000258787
Coding exons: 22
Length: 16437
Individuals with no LoFs: 125688
Homozygous LoFs: 0
Heterozygous LoFs: 60
Defined: 125748
p: 0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.86	511	644	0.794	0.0000431	6575
Missense (PolyPhen)		239	319.43	0.7482		3368
Synonymous	1.86	215	253	0.851	0.0000158	2047
Loss of Function	3.67	25	54.2	0.462	0.00000319	547

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00068	0.00068	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0.000053	0.000046	rare
European (Non-Finnish)	0.00028	0.00028	rare
South Asian	0.00016	0.00016	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Unconventional myosin required during immune response for detection of rare antigen-presenting cells by regulating T- cell migration. Unconventional myosins are actin-based motor molecules with ATPase activity and serve in intracellular movements. Acts as a regulator of T-cell migration by generating membrane tension, enforcing cell-intrinsic meandering search, thereby enhancing detection of rare antigens during lymph-node surveillance, enabling pathogen eradication. Also required in B- cells, where it regulates different membrane/cytoskeleton- dependent processes. Involved in Fc-gamma receptor (Fc-gamma-R) phagocytosis. {ECO:0000250|UniProtKB:Q5SUA5}.;

Recessive Scores

pRec: 0.122

Intolerance Scores

LoFtool: 0.144
RVIS EVS: -0.83
RVIS percentile EVS: 11.51

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.756

Gene Damage Prediction

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