MYO3B

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

Basic information

Region (hg38): 2:170178145-170655171

Links

ENSG00000071909

∙ NCBI:140469 ∙ OMIM:610040 ∙ HGNC:15576 ∙ Uniprot:Q8WXR4 ∙ 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 MYO3B gene.

not_specified (199 variants)
not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO3B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138995.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar		3
missense			190 clinvar	8 clinvar	2 clinvar	200
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	190	11	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO3B	protein_coding	protein_coding	ENST00000408978	35	477027

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.03e-36	0.00307	124554	0	243	124797	0.000974

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.109	726	734	0.989	0.0000385	8799
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00222	0.00220
Ashkenazi Jewish	0.000199	0.000199
East Asian	0.00150	0.00150
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000905	0.000901
Middle Eastern	0.00150	0.00150
South Asian	0.00148	0.00147
Other	0.00132	0.00132

dbNSFP

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

Haploinsufficiency Scores

pHI: 0.181
hipred: Y
hipred_score: 0.544
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0764

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Myo3b
Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process: protein phosphorylation;visual perception;sensory perception of sound;response to stimulus;cochlea morphogenesis
Cellular component: cytoplasm;myosin complex;stereocilium tip
Molecular function: motor activity;actin binding;protein serine/threonine kinase activity;ATP binding