STRN

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

Basic information

Region (hg38): 2:36837698-36966536

Links

ENSG00000115808 ∙ NCBI:6801 ∙ OMIM:614765 ∙ HGNC:11424 ∙ Uniprot:O43815 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STRN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STRN gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			35			35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					30	30
Total	0	0	35	0	30

Variants in STRN

This is a list of pathogenic ClinVar variants found in the STRN region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-36849355-A-C			Benign (May 16, 2021)
2-36849451-T-C			Benign (May 05, 2021)
2-36849479-C-T		not specified	Uncertain significance (Jan 03, 2024)
2-36849611-T-C		not specified	Uncertain significance (Sep 14, 2022)
2-36849787-G-C		not specified	Uncertain significance (Oct 06, 2021)
2-36849872-C-A			Benign (May 15, 2021)
2-36850033-G-A			Benign (Jun 19, 2021)
2-36850952-A-AT			Benign (May 15, 2021)
2-36850952-A-ATT			Benign (May 15, 2021)
2-36851080-C-G		not specified	Uncertain significance (May 13, 2024)
2-36851211-G-A			Benign (May 16, 2021)
2-36851245-G-A			Benign (May 16, 2021)
2-36854891-G-A			Benign (Jun 19, 2021)
2-36855099-TAA-T			Benign (May 16, 2021)
2-36855271-C-T		not specified	Uncertain significance (Oct 12, 2021)
2-36855552-C-T			Benign (May 15, 2021)
2-36857574-T-C			Benign (Jun 19, 2021)
2-36857904-T-G		not specified	Uncertain significance (Dec 07, 2021)
2-36857933-C-G		not specified	Uncertain significance (Sep 26, 2022)
2-36857987-G-A		not specified	Uncertain significance (Jun 13, 2023)
2-36858331-G-A			Benign (Jun 19, 2021)
2-36860797-A-G			Benign (Jun 19, 2021)
2-36860940-C-T			Benign (May 15, 2021)
2-36861137-G-A		not specified	Uncertain significance (Mar 20, 2024)
2-36861155-T-C		not specified	Uncertain significance (Jan 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STRN	protein_coding	protein_coding	ENST00000263918	18	122833

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.661	0.339	125731	0	15	125746	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.686	357	395	0.903	0.0000195	5113
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000291	0.0000291
Ashkenazi Jewish	0.000204	0.000198
East Asian	0.0000548	0.0000544
Finnish	0.0000475	0.0000462
European (Non-Finnish)	0.0000530	0.0000527
Middle Eastern	0.0000548	0.0000544
South Asian	0.000138	0.000131
Other	0.00	0.00

dbNSFP

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.
• Pathway: 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 (Consensus)

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.404
• rvis_EVS: -0.2
• rvis_percentile_EVS: 38.98

Haploinsufficiency Scores

• pHI: 0.169
• hipred: Y
• hipred_score: 0.718
• ghis: 0.544

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.761

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Strn
• Phenotype: homeostasis/metabolism phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: locomotory behavior;negative regulation of cell population proliferation;Wnt signaling pathway;dendrite development;bicellular tight junction assembly
• Cellular component: cytoplasm;bicellular tight junction;postsynaptic density;membrane;dendrite;neuronal cell body;dendritic spine;postsynaptic membrane;FAR/SIN/STRIPAK complex
• Molecular function: protein binding;calmodulin binding;estrogen receptor binding;protein-containing complex binding;protein phosphatase 2A binding;armadillo repeat domain binding