STRN4

protein-coding

striatin 4, the group of WD repeat domain containing|Protein phosphatase 2 regulatory subunits|STRIPAK complex

Gene summary

Enables armadillo repeat domain binding activity and protein phosphatase 2A binding activity. Contributes to protein-macromolecule adaptor activity. Involved in negative regulation of hippo signaling. Part of FAR/SIN/STRIPAK complex. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_013403.3

Inheritance

—

ClinVar variants

U:116B:8

Top phenotype

FKRP-related disorder

gnomAD constraint

pLI —, LoF o/e 0.12

Max pathogenic AF

—

Genomic locus

chr19:46,719,511-46,746,994

External References & Databases

Ensembl (ENSG00000090372)

Transcript & Mutation Effects

hg38 • Region Span ~27.5 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 STRN4 variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 118

not providedTotal: 18

FKRP-related disorderTotal: 2

Autosomal recessive limb-girdle muscular dystrophy type 2ITotal: 2

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_013403.3. 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				4 clinvar	2 clinvar	6
missense			109 clinvar	1 clinvar	1 clinvar	111
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	116	5	3	124

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 56 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_013403.3	RefSeq	NP_037535.2	17	MANE Select
ENST00000263280.11	Ensembl	ENSP00000263280.4	17	MANE Select
NM_001039877.2	RefSeq	NP_001034966.1	17	Standard
ENST00000391910.7	Ensembl	ENSP00000375777.1	17	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

protein binding
calmodulin binding
protein-containing complex binding
protein phosphatase 2A binding
armadillo repeat domain binding

Cellular Component

cytoplasm
membrane
dendrite
dendritic spine
FAR/SIN/STRIPAK complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000391910
Coding exons: 17
Length: 27488
Individuals with no LoFs: 125736
Homozygous LoFs: 0
Heterozygous LoFs: 10
Defined: 125746
p: 0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.29	328	467	0.702	0.0000306	4935
Missense (PolyPhen)		131	227.6	0.57557		2299
Synonymous	-0.282	211	206	1.02	0.0000152	1560
Loss of Function	4.65	4	32.7	0.122	0.00000148	384

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000036	0.000035	rare
South Asian	0.000065	0.000065	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein.;

Recessive Scores

pRec: 0.120

Intolerance Scores

LoFtool: 0.220
RVIS EVS: -1.29
RVIS percentile EVS: 5.08

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.659

Gene Damage Prediction

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