MYRIP

protein-coding

myosin VIIA and Rab interacting protein, the group of A-kinase anchoring proteins

Gene summary

Predicted to enable actin binding activity and myosin binding activity. Predicted to be involved in positive regulation of insulin secretion. Predicted to be located in dense core granule and perinuclear region of cytoplasm. Predicted to be part of exocyst. Predicted to be active in cortical actin cytoskeleton. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_015460.4

Inheritance

—

ClinVar variants

U:144B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.38

Max pathogenic AF

—

Genomic locus

chr3:39,808,914-40,260,321

External References & Databases

Ensembl (ENSG00000170011)

Transcript & Mutation Effects

hg38 • Region Span ~451.4 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 MYRIP variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 142

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015460.4. 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	2 clinvar	6
missense			138 clinvar	7 clinvar		145
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	144	9	2	155

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 27 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015460.4	RefSeq	NP_056275.2	16	MANE Select
ENST00000302541.11	Ensembl	ENSP00000301972.6	16	MANE Select
NM_001284423.2	RefSeq	NP_001271352.1	16	Standard
NM_001284424.2	RefSeq	NP_001271353.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Deregulation of Rab and Rab Effector Genes in Bladder Cancer

Biological Process

intracellular protein transport
positive regulation of insulin secretion

Molecular Function

actin binding
protein binding
zinc ion binding
myosin binding
Rab GTPase binding

Cellular Component

exocyst
photoreceptor outer segment
transport vesicle
cortical actin cytoskeleton
dense core granule

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000302541
Coding exons: 16
Length: 451408
Individuals with no LoFs: 125680
Homozygous LoFs: 0
Heterozygous LoFs: 68
Defined: 125748
p: 0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.733	440	485	0.906	0.0000270	5606
Missense (PolyPhen)		158	188.83	0.83674		2302
Synonymous	-1.07	212	193	1.10	0.0000109	1692
Loss of Function	3.85	17	44.9	0.379	0.00000238	500

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.0032	0.0032	notable
East Asian	0.000054	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00017	0.00017	rare
South Asian	0.00039	0.00033	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring protein (AKAP). May act as a scaffolding protein that links PKA to components of the exocytosis machinery, thus facilitating exocytosis, including insulin release (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.108

Intolerance Scores

LoFtool: 0.691
RVIS EVS: -0.73
RVIS percentile EVS: 14.24

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.690

Gene Damage Prediction

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