GAS2L2

growth arrest specific 2 like 2

Basic information

Region (hg38): 17:35744511-35753239

Links

ENSG00000270765 ∙ NCBI:246176 ∙ OMIM:611398 ∙ HGNC:24846 ∙ Uniprot:Q8NHY3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• ciliary dyskinesia, primary, 41 (Moderate), mode of inheritance: AR
• ciliary dyskinesia, primary, 41 (Limited), mode of inheritance: AR
• primary ciliary dyskinesia (Supportive), mode of inheritance: AD
• ciliary dyskinesia, primary, 41 (Moderate), mode of inheritance: AR
• ciliary dyskinesia, primary, 41 (Strong), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GAS2L2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GAS2L2 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				3	2	5
missense			96	16	5	117
nonsense			1			1
start loss						0
frameshift			1			1
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1	8	9
Total	0	0	98	21	15

Variants in GAS2L2

This is a list of pathogenic ClinVar variants found in the GAS2L2 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-35744628-C-T			Benign (May 19, 2021)
17-35744833-T-A			Benign (May 13, 2021)
17-35744898-G-A		not specified	Uncertain significance (Oct 22, 2021)
17-35744906-G-A		GAS2L2-related disorder	Benign (Nov 25, 2019)
17-35744949-C-T		GAS2L2-related disorder	Benign (Jan 06, 2020)
17-35744982-C-T		not specified	Uncertain significance (Mar 18, 2024)
17-35745011-C-T		not specified	Likely benign (Apr 04, 2024)
17-35745012-G-A		not specified	Benign (May 04, 2022)
17-35745016-T-C		GAS2L2-related disorder	Likely benign (Jul 18, 2023)
17-35745018-C-G		not specified	Uncertain significance (Apr 18, 2023)
17-35745026-C-T		not specified	Uncertain significance (Feb 21, 2024)
17-35745055-C-T		GAS2L2-related disorder	Benign (Jan 23, 2024)
17-35745064-G-A		GAS2L2-related disorder	Likely benign (May 19, 2021)
17-35745069-G-A		not specified	Uncertain significance (Jul 29, 2022)
17-35745128-T-G		not specified	Uncertain significance (Jan 07, 2025)
17-35745155-C-G		GAS2L2-related disorder	Benign (Dec 24, 2019)
17-35745155-C-T		not specified	Uncertain significance (Apr 26, 2023)
17-35745156-G-A		not specified	Uncertain significance (Jan 23, 2023)
17-35745191-G-A		not specified	Uncertain significance (May 10, 2022)
17-35745209-C-T		GAS2L2-related disorder	Likely benign (Jun 14, 2023)
17-35745210-G-A		not specified	Uncertain significance (Jan 26, 2025)
17-35745217-TCTC-T		GAS2L2-related disorder	Likely benign (Feb 01, 2023)
17-35745226-C-T		GAS2L2-related disorder	Benign (Nov 16, 2019)
17-35745246-C-T		not specified	Uncertain significance (Jan 21, 2025)
17-35745257-T-C		not specified	Likely benign (Jun 02, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Seems to be involved in the cross-linking of microtubules and microfilaments. {ECO:0000269|PubMed:12584248}.

Recessive Scores

• pRec: 0.0705

Intolerance Scores

• loftool: 0.709
• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.58

Haploinsufficiency Scores

• pHI: 0.0669
• hipred: N
• hipred_score: 0.324

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0722

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gas2l2
• Phenotype: liver/biliary system phenotype; embryo phenotype; neoplasm; 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); hematopoietic system phenotype; normal phenotype; vision/eye phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; skeleton phenotype; renal/urinary system phenotype; immune system phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; craniofacial phenotype; muscle phenotype

Gene ontology

• Cellular component: cytoplasm;cytoskeleton
• Molecular function: microtubule binding