STRN3

protein-coding

striatin 3, the group of WD repeat domain containing|STRIPAK complex|Protein phosphatase 2 regulatory subunits|MicroRNA protein coding host genes

Gene summary

Enables armadillo repeat domain binding activity; enzyme binding activity; and protein-macromolecule adaptor activity. Involved in negative regulation of hippo signaling; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in Golgi apparatus; nucleoplasm; and plasma membrane. Part of FAR/SIN/STRIPAK complex. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001083893.2

Inheritance

—

ClinVar variants

U:111B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.19

Max pathogenic AF

—

Genomic locus

chr14:30,893,799-31,026,401

External References & Databases

Ensembl (ENSG00000196792)

Transcript & Mutation Effects

hg38 • Region Span ~132.6 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 STRN3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 105

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001083893.2. 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	1 clinvar		3
missense			104 clinvar	5 clinvar		109
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	111	6	0	117

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 33 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001083893.2	RefSeq	NP_001077362.1	18	MANE Select
ENST00000357479.10	Ensembl	ENSP00000350071.5	18	MANE Select
NM_014574.4	RefSeq	NP_055389.3	16	Standard
ENST00000355683.10	Ensembl	ENSP00000347909.5	16	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

response to estradiol
negative regulation of intracellular estrogen receptor signaling pathway
negative regulation of transcription, DNA-templated

Molecular Function

protein binding
calmodulin binding
Rho GTPase binding
protein-containing complex binding
protein phosphatase 2A binding

Cellular Component

nucleoplasm
Golgi apparatus
plasma membrane
dendrite
protein-containing complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000357479
Coding exons: 18
Length: 132603
Individuals with no LoFs: 125714
Homozygous LoFs: 0
Heterozygous LoFs: 28
Defined: 125742
p: 0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.935	358	411	0.870	0.0000204	5161
Missense (PolyPhen)		130	176.82	0.73521		2224
Synonymous	1.51	129	153	0.845	0.00000779	1521
Loss of Function	4.78	8	41.1	0.195	0.00000190	538

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000061	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000094	0.000092	rare
European (Non-Finnish)	0.00016	0.00015	rare
South Asian	0.00010	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.135

Intolerance Scores

LoFtool: 0.136
RVIS EVS: -0.58
RVIS percentile EVS: 18.78

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.979

Gene Damage Prediction

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