STRN3

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

Basic information

Region (hg38): 14:30893799-31026401

Links

ENSG00000196792 ∙ NCBI:29966 ∙ OMIM:614766 ∙ HGNC:15720 ∙ Uniprot:Q13033 ∙ 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 STRN3 gene.

• not_specified (89 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STRN3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001083893.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2	1		3
missense			88	5		93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5			5
Total	0	0	95	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STRN3	protein_coding	protein_coding	ENST00000357479	18	132603

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.829	0.171	125714	0	28	125742	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.935	358	411	0.870	0.0000204	5161
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000611	0.0000611
Ashkenazi Jewish	0.00	0.00
East Asian	0.000225	0.000217
Finnish	0.0000937	0.0000924
European (Non-Finnish)	0.000157	0.000149
Middle Eastern	0.000225	0.000217
South Asian	0.000100	0.0000980
Other	0.00	0.00

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.834
• hipred: Y
• hipred_score: 0.704
• ghis: 0.610

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.979

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Strn3
• Phenotype: 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); 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); homeostasis/metabolism phenotype

Gene ontology

• Biological process: response to estradiol;negative regulation of intracellular estrogen receptor signaling pathway;negative regulation of transcription, DNA-templated
• Cellular component: nucleoplasm;Golgi apparatus;plasma membrane;dendrite;protein-containing complex;neuronal cell body;FAR/SIN/STRIPAK complex
• Molecular function: protein binding;calmodulin binding;Rho GTPase binding;protein-containing complex binding;protein phosphatase 2A binding;armadillo repeat domain binding