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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 4.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
ENST00000604641.6	ENSP00000474529.2	6	yes	-
ENST00000852135.1	ENSP00000522194.1	6	-	-
ENST00000852136.1	ENSP00000522195.1	5	-	-
NM_000139285.4	NP_000644814.1	6	yes	-

Phenotypes

GenCC

Source: genCC

• ciliary dyskinesia, primary, 41 (Limited), mode of inheritance: AR
• ciliary dyskinesia, primary, 41 (Moderate), mode of inheritance: AR
• primary ciliary dyskinesia (Supportive), mode of inheritance: AD
• 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 (172 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				15	3	18
missense	1		149	27	6	183
nonsense			1			1
start loss						0
frameshift			2			2
splice donor/acceptor (+/-2bp)						0
Total	1	0	152	42	9

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

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

Gene ontology

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