RASAL2

RAS protein activator like 2, the group of C2 and RasGAP domain containing|Pleckstrin homology domain containing

Basic information

Region (hg38): 1:178094104-178484147

Links

ENSG00000075391 ∙ NCBI:9462 ∙ OMIM:606136 ∙ HGNC:9874 ∙ Uniprot:Q9UJF2 ∙ 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 RASAL2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASAL2 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				4	2	6
missense			103	3		106
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	103	7	2

Variants in RASAL2

This is a list of pathogenic ClinVar variants found in the RASAL2 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-178094500-T-G		not specified	Uncertain significance (Nov 15, 2024)
1-178094505-C-T		not specified	Uncertain significance (Jun 12, 2023)
1-178094568-G-T		not specified	Uncertain significance (Jan 24, 2025)
1-178094575-C-A			Likely benign (Dec 31, 2019)
1-178094582-C-T			Likely benign (Apr 01, 2023)
1-178094589-G-T		not specified	Uncertain significance (Aug 10, 2023)
1-178094657-G-T		not specified	Uncertain significance (Dec 12, 2023)
1-178094677-G-C		not specified	Uncertain significance (Nov 14, 2024)
1-178283573-G-A		not specified	Uncertain significance (Jul 19, 2022)
1-178283587-C-T		not specified	Uncertain significance (Aug 11, 2022)
1-178283588-G-T		not specified	Uncertain significance (Apr 15, 2024)
1-178283614-A-C		not specified	Uncertain significance (Nov 08, 2024)
1-178299992-A-T		not specified	Uncertain significance (Jan 18, 2025)
1-178300011-A-T		not specified	Uncertain significance (Jul 21, 2021)
1-178300041-G-A		not specified	Uncertain significance (Jan 23, 2024)
1-178300088-G-A		not specified	Uncertain significance (Mar 01, 2024)
1-178300103-G-A		not specified	Uncertain significance (Sep 17, 2021)
1-178300106-G-A		not specified	Likely benign (May 04, 2023)
1-178390101-G-C		not specified	Uncertain significance (Nov 10, 2024)
1-178390115-G-A		not specified	Uncertain significance (Feb 15, 2025)
1-178390130-G-A		not specified	Uncertain significance (Jun 22, 2021)
1-178390173-G-T		not specified	Uncertain significance (Apr 09, 2024)
1-178420511-G-C		not specified	Uncertain significance (Dec 11, 2023)
1-178420545-A-G		not specified	Uncertain significance (Jun 24, 2022)
1-178420572-A-G		not specified	Uncertain significance (Mar 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASAL2	protein_coding	protein_coding	ENST00000367649	18	385781

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.796	0.204	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.40	615	721	0.853	0.0000402	8420
Missense in Polyphen		275	344.71	0.79776		4028
Synonymous	0.508	253	263	0.960	0.0000133	2496
Loss of Function	5.61	12	58.1	0.207	0.00000310	677

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.000164	0.000163
South Asian	0.000170	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibitory regulator of the Ras-cyclic AMP pathway.
• Pathway: Ras signaling pathway - Homo sapiens (human);Ras Signaling;Signal Transduction;Regulation of RAS by GAPs;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;TNFalpha (Consensus)

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.241
• rvis_EVS: -2.1
• rvis_percentile_EVS: 1.53

Haploinsufficiency Scores

• pHI: 0.770
• hipred: N
• hipred_score: 0.462
• ghis: 0.627

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.925

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rasal2
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); neoplasm; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: MAPK cascade;signal transduction;positive regulation of GTPase activity
• Cellular component: cytosol
• Molecular function: GTPase activator activity;protein binding