STRADB

STE20 related adaptor beta

Basic information

Region (hg38): 2:201387858-201480846

Previous symbols: [ "ALS2CR2" ]

Links

ENSG00000082146 ∙ NCBI:55437 ∙ OMIM:607333 ∙ HGNC:13205 ∙ Uniprot:Q9C0K7 ∙ 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 STRADB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STRADB 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					1	1
missense			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	1

Variants in STRADB

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

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

Position	Type	Phenotype	Significance	ClinVar
2-201387874-G-A		not specified	Uncertain significance (Jun 17, 2024)
2-201387889-C-T		not specified	Uncertain significance (Dec 03, 2021)
2-201387893-G-A			Benign (Dec 31, 2019)
2-201387934-G-C		not specified	Uncertain significance (Apr 09, 2024)
2-201389310-C-T		not specified	Uncertain significance (May 11, 2022)
2-201389335-G-A			Benign (Apr 12, 2018)
2-201389396-C-T		not specified	Uncertain significance (Jun 06, 2023)
2-201389402-C-T		not specified	Likely benign (Apr 04, 2023)
2-201389447-C-T		not specified	Uncertain significance (Dec 19, 2022)
2-201389462-T-C		not specified	Uncertain significance (May 10, 2022)
2-201389498-T-C		not specified	Uncertain significance (Feb 21, 2024)
2-201389798-T-C			Benign (Mar 29, 2018)
2-201389826-C-T		not specified	Uncertain significance (Sep 14, 2022)
2-201389829-C-T		not specified	Uncertain significance (May 13, 2024)
2-201392971-G-A		not specified	Uncertain significance (Oct 17, 2023)
2-201393042-T-A			Uncertain significance (Apr 27, 2022)
2-201394814-C-T		not specified	Uncertain significance (May 22, 2023)
2-201394820-G-A		not specified	Uncertain significance (Nov 21, 2023)
2-201395433-C-A		not specified	Uncertain significance (Sep 23, 2023)
2-201398219-C-G		not specified	Uncertain significance (Feb 13, 2024)
2-201398240-C-T		not specified	Uncertain significance (Dec 15, 2022)
2-201398303-C-T		not specified	Uncertain significance (Sep 26, 2023)
2-201398311-A-G		not specified	Uncertain significance (Dec 28, 2022)
2-201399393-C-T		not specified	Uncertain significance (Feb 27, 2024)
2-201399442-G-A		not specified	Uncertain significance (Mar 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STRADB	protein_coding	protein_coding	ENST00000194530	11	92989

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00101	0.997	125722	0	26	125748	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.54	153	217	0.706	0.0000104	2724
Missense in Polyphen		52	81.525	0.63784		1039
Synonymous	0.248	77	79.8	0.965	0.00000381	805
Loss of Function	2.68	9	22.8	0.395	0.00000105	277

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000276	0.000275
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000554	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.0000554	0.0000544
South Asian	0.0000664	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation (By similarity). {ECO:0000250, ECO:0000269|PubMed:14517248}.
• Pathway: mTOR signaling pathway - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);AMP-activated Protein Kinase (AMPK) Signaling;mir-124 predicted interactions with cell cycle and differentiation;Signal Transduction;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;LKB1 signaling events (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.710
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24

Haploinsufficiency Scores

• pHI: 0.251
• hipred: Y
• hipred_score: 0.775
• ghis: 0.529

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.797

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Stradb

Gene ontology

• Biological process: MAPK cascade;protein phosphorylation;protein export from nucleus;cell cycle arrest;signal transduction by protein phosphorylation;stress-activated protein kinase signaling cascade;activation of protein kinase activity;neuron projection morphogenesis;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
• Cellular component: nucleus;cytoplasm;cytosol;aggresome
• Molecular function: protein kinase activity;protein serine/threonine kinase activity;protein binding;ATP binding