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.

not_specified (159 variants)
GAS2L2-related_disorder (33 variants)
not_provided (10 variants)
Ciliary_dyskinesia,_primary,_41 (7 variants)
Primary_ciliary_dyskinesia_3 (1 variants)
Primary_ciliary_dyskinesia (1 variants)

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. These statistics are base on transcript: NM_000139285.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				15 clinvar	3 clinvar	18
missense	1 clinvar		138 clinvar	26 clinvar	6 clinvar	171
nonsense			1 clinvar			1
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)						0
Total	1	0	141	41	9

Loading clinvar variants...

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
ghis

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

Biological process
Cellular component: cytoplasm;cytoskeleton
Molecular function: microtubule binding