STRIP2

striatin interacting protein 2, the group of STRIPAK complex

Basic information

Region (hg38): 7:129434432-129488399

Previous symbols: [ "FAM40B" ]

Links

ENSG00000128578 ∙ NCBI:57464 ∙ OMIM:617919 ∙ HGNC:22209 ∙ Uniprot:Q9ULQ0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Tourette syndrome (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STRIP2 gene.

• not_specified (93 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STRIP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020704.3. 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						0
missense			92	1		93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	92	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STRIP2	protein_coding	protein_coding	ENST00000249344	21	53967

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.64e-15	0.919	125652	0	96	125748	0.000382

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.32	383	463	0.827	0.0000251	5460
Missense in Polyphen		167	199.59	0.8367		2269
Synonymous	0.567	171	181	0.946	0.00000940	1620
Loss of Function	2.21	31	47.4	0.653	0.00000246	554

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000691	0.000691
Ashkenazi Jewish	0.00	0.00
East Asian	0.000489	0.000489
Finnish	0.000186	0.000185
European (Non-Finnish)	0.000458	0.000457
Middle Eastern	0.000489	0.000489
South Asian	0.000458	0.000457
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000269|PubMed:21834987}.

Recessive Scores

• pRec: 0.109

Intolerance Scores

• rvis_EVS: -0.64
• rvis_percentile_EVS: 16.68

Haploinsufficiency Scores

• pHI: 0.191
• hipred: Y
• hipred_score: 0.681
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Strip2

Zebrafish Information Network

• Gene name: strip2
• Affected structure: heart
• Phenotype tag: abnormal
• Phenotype quality: edematous

Gene ontology

• Biological process: cytoskeleton organization;regulation of cell shape;cell migration
• Cellular component: cytoplasm;cytosol
• Molecular function: molecular_function