ARHGAP33

Rho GTPase activating protein 33, the group of Rho GTPase activating proteins

Basic information

Region (hg38): 19:35774532-35788822

Previous symbols: [ "SNX26" ]

Links

ENSG00000004777 ∙ NCBI:115703 ∙ OMIM:614902 ∙ HGNC:23085 ∙ Uniprot:O14559 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 23.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_001366178.1	NP_001353107.1	21	yes	-
ENST00000007510.9	ENSP00000007510.6	21	yes	-
NM_052948.4	NP_443180.2	21	-	-
NM_001172630.2	NP_001166101.1	17	-	-

Phenotypes

GenCC

Source: genCC

• complex neurodevelopmental disorder (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARHGAP33 gene.

• not_specified (178 variants)
• not_provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP33 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001366178.1. 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			5	3	3	11
missense			177	5		182
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	184	8	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGAP33	protein_coding	protein_coding	ENST00000314737	21	14291

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125701	0	46	125747	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.80	576	711	0.810	0.0000468	7016
Missense in Polyphen		171	193.49	0.88375		2036
Synonymous	-0.276	310	304	1.02	0.0000198	2532
Loss of Function	5.03	14	53.9	0.260	0.00000310	529

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000589	0.000565
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.000170	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000173	0.000167
Middle Eastern	0.000170	0.000163
South Asian	0.000131	0.000131
Other	0.000497	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in several stages of intracellular trafficking. Could play an important role in the regulation of glucose transport by insulin. May act as a downstream effector of RHOQ/TC10 in the regulation of insulin-stimulated glucose transport (By similarity). {ECO:0000250}.
• Pathway: Insulin Signaling;Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Recessive Scores

• pRec: 0.133

Intolerance Scores

• loftool: 0.678
• rvis_EVS: -1.46
• rvis_percentile_EVS: 3.86

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Gene ontology

• Biological process: small GTPase mediated signal transduction;response to toxic substance;protein transport;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction;regulation of dendritic spine morphogenesis
• Cellular component: cytoplasm;cytosol;plasma membrane;protein-containing complex;dendritic spine
• Molecular function: GTPase activator activity;protein binding;protein kinase binding;phosphatidylinositol binding