MYO3B

protein-coding

myosin IIIB, the group of Myosin heavy chains, class III

Gene summary

This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

MANE transcript

NM_138995.5

Inheritance

—

ClinVar variants

U:229B:17

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.81

Max pathogenic AF

—

Genomic locus

chr2:170,178,145-170,655,171

External References & Databases

Ensembl (ENSG00000071909)

Transcript & Mutation Effects

hg38 • Region Span ~477.0 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 MYO3B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 231

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138995.5. 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	6 clinvar		8
missense			222 clinvar	9 clinvar	2 clinvar	233
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	229	15	2	246

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_138995.5	RefSeq	NP_620482.3	35	MANE Select
ENST00000408978.9	Ensembl	ENSP00000386213.4	35	MANE Select
NM_001083615.4	RefSeq	NP_001077084.2	34	Standard
ENST00000317935.10	Ensembl	ENSP00000314650.6	33	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein phosphorylation
visual perception
sensory perception of sound
response to stimulus
cochlea morphogenesis

Molecular Function

motor activity
actin binding
protein serine/threonine kinase activity
ATP binding

Cellular Component

cytoplasm
myosin complex
stereocilium tip

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000408978
Coding exons: 35
Length: 477027
Individuals with no LoFs: 124554
Homozygous LoFs: 0
Heterozygous LoFs: 243
Defined: 124797
p: 0.000974

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.109	726	734	0.989	0.0000385	8799
Missense (PolyPhen)		235	247.82	0.94828		3018
Synonymous	-0.662	275	261	1.05	0.0000139	2526
Loss of Function	1.61	64	79.5	0.805	0.00000428	918

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00085	0.00084	rare
Latino/Admixed American	0.0014	0.0013	notable
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.0015	0.0015	notable
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00090	0.00090	rare
South Asian	0.0015	0.0015	notable
Other	0.0013	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable actin-based motor with a protein kinase activity. Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments. {ECO:0000250|UniProtKB:Q1EG27}.;

Intolerance Scores

LoFtool: 0.231
RVIS EVS: 2.33
RVIS percentile EVS: 98.38

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0764

Gene Damage Prediction

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