MYO7B

protein-coding

myosin VIIB, the group of FERM domain containing|Myosin heavy chains, class VII

Gene summary

The protein encoded by this gene is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskeleton and is essential for proper microvilli function. This protein aids in the accumulation of intermicrovillar adhesion components such as harmonin and ANKS4B, and this accumulation is necessary for normal brush border action. [provided by RefSeq, Jan 2017]

MANE transcript

NM_001393586.1

Inheritance

—

ClinVar variants

U:380B:82

Top phenotype

MYO7B-related disorder

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr2:127,535,683-127,637,729

External References & Databases

Ensembl (ENSG00000169994)

Transcript & Mutation Effects

hg38 • Region Span ~102.0 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 MYO7B variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 381

MYO7B-related disorderTotal: 77

not providedTotal: 18

Neuromuscular diseaseTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001393586.1. 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	28 clinvar	11 clinvar	41
missense			372 clinvar	25 clinvar	18 clinvar	415
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	380	53	29	462

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001393586.1	RefSeq	NP_001380515.1	47	MANE Select
ENST00000409816.8	Ensembl	ENSP00000386461.3	47	MANE Select
NM_001080527.2	RefSeq	NP_001073996.1	46	Standard
NM_001393594.1	RefSeq	NP_001380523.1	22	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell differentiation
brush border assembly

Molecular Function

motor activity
protein binding
ATP binding
actin filament binding

Cellular Component

microvillus
brush border
myosin complex
apical cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000428314
Coding exons: 46
Length: 101927
Individuals with no LoFs: 125236
Homozygous LoFs: 2
Heterozygous LoFs: 230
Defined: 125468
p: 0.000925

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.483	1227	1.28e+3	0.962	0.0000817	13741
Missense (PolyPhen)		438	482.78	0.90724		5304
Synonymous	-0.231	560	553	1.01	0.0000388	4117
Loss of Function	3.94	67	112	0.598	0.00000567	1221

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00086	0.00074	rare
Latino/Admixed American	0.00092	0.00078	rare
Ashkenazi Jewish	0.0013	0.0013	notable
East Asian	0.00078	0.00076	rare
Finnish	0.00023	0.00023	rare
European (Non-Finnish)	0.00097	0.00093	rare
South Asian	0.0017	0.0017	notable
Other	0.00087	0.00082	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. May link the complex to the actin core bundle of microvilli (Probable). {ECO:0000305|PubMed:24725409, ECO:0000305|PubMed:26812018}.;

Intolerance Scores

LoFtool: 0.203
RVIS EVS: 1.02
RVIS percentile EVS: 90.92

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.121

Gene Damage Prediction

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