STRN

protein-coding

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

Gene summary

Enables armadillo repeat domain binding activity; nuclear estrogen receptor binding activity; and protein phosphatase 2A binding activity. Involved in Wnt signaling pathway and negative regulation of cell population proliferation. Located in bicellular tight junction. Part of FAR/SIN/STRIPAK complex. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_003162.4

Inheritance

—

ClinVar variants

U:109B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.21

Max pathogenic AF

—

Genomic locus

chr2:36,837,698-36,966,536

External References & Databases

Ensembl (ENSG00000115808)

Transcript & Mutation Effects

hg38 • Region Span ~128.8 kb

Loading mutation effect viewer...

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 STRN variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 97

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003162.4. 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			3 clinvar	1 clinvar		4
missense			101 clinvar	2 clinvar		103
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	109	3	0	112

Loading ClinVar variants...

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_003162.4	RefSeq	NP_003153.2	18	MANE Select
ENST00000263918.9	Ensembl	ENSP00000263918.4	18	MANE Select
ENST00000874611.1	Ensembl	ENSP00000544670.1	17	Standard
ENST00000874611.2	Ensembl	ENSP00000544670.1	17	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

miR-targeted genes in lymphocytes - TarBase
miR-targeted genes in muscle cell - TarBase
MET in type 1 papillary renal cell carcinoma
Plasma membrane estrogen receptor signaling

Biological Process

locomotory behavior
negative regulation of cell population proliferation
Wnt signaling pathway
dendrite development
bicellular tight junction assembly

Molecular Function

protein binding
calmodulin binding
estrogen receptor binding
protein-containing complex binding
protein phosphatase 2A binding

Cellular Component

cytoplasm
bicellular tight junction
postsynaptic density
membrane
dendrite

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263918
Coding exons: 18
Length: 122833
Individuals with no LoFs: 125731
Homozygous LoFs: 0
Heterozygous LoFs: 15
Defined: 125746
p: 0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.686	357	395	0.903	0.0000195	5113
Missense (PolyPhen)		71	125.67	0.56497		1595
Synonymous	-2.62	186	146	1.28	0.00000760	1449
Loss of Function	4.81	9	43.0	0.209	0.00000247	503

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.000055	0.000054	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.000053	0.000053	rare
South Asian	0.00014	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Calmodulin-binding protein which may function as scaffolding or signaling protein and may play a role in dendritic Ca(2+) signaling.;

Recessive Scores

pRec: 0.105

Intolerance Scores

LoFtool: 0.404
RVIS EVS: -0.2
RVIS percentile EVS: 38.98

Essentials

Essential (CRISPR): E
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.761

Gene Damage Prediction

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