ARHGEF26

Rho guanine nucleotide exchange factor 26, the group of Dbl family Rho GEFs|Pleckstrin homology domain containing

Basic information

Region (hg38): 3:154121003-154257827

Links

ENSG00000114790 ∙ NCBI:26084 ∙ OMIM:617552 ∙ HGNC:24490 ∙ Uniprot:Q96DR7 ∙ 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 ARHGEF26 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGEF26 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						0
missense			57	1		58
nonsense						0
start loss						0
frameshift						0
inframe indel			1			1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	58	1	0

Variants in ARHGEF26

This is a list of pathogenic ClinVar variants found in the ARHGEF26 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-154122026-A-G		not specified	Uncertain significance (Jan 25, 2023)
3-154122030-G-A		not specified	Uncertain significance (Mar 19, 2024)
3-154122048-G-T		not specified	Uncertain significance (Dec 30, 2023)
3-154122063-C-T		not specified	Uncertain significance (Aug 12, 2021)
3-154122087-G-A		not specified	Uncertain significance (Feb 13, 2024)
3-154122117-G-C		not specified	Uncertain significance (Feb 15, 2023)
3-154122119-C-T		not specified	Uncertain significance (Nov 27, 2023)
3-154122125-G-A		not specified	Uncertain significance (Jun 07, 2024)
3-154122191-C-G		not specified	Uncertain significance (Apr 18, 2023)
3-154122194-G-A		not specified	Uncertain significance (Jan 26, 2022)
3-154122288-C-T		not specified	Uncertain significance (Jul 21, 2021)
3-154122309-C-T		not specified	Uncertain significance (Sep 27, 2021)
3-154122315-T-C		not specified	Uncertain significance (Mar 20, 2024)
3-154122315-T-G		not specified	Uncertain significance (May 29, 2024)
3-154122341-C-A		not specified	Uncertain significance (Mar 07, 2024)
3-154122429-C-T		not specified	Uncertain significance (May 31, 2023)
3-154122431-C-G		not specified	Uncertain significance (Mar 20, 2024)
3-154122435-G-C		not specified	Uncertain significance (Jun 17, 2024)
3-154122437-A-C		not specified	Uncertain significance (Nov 08, 2021)
3-154122471-A-G		not specified	Uncertain significance (Jun 03, 2024)
3-154122483-G-A		not specified	Uncertain significance (Aug 08, 2023)
3-154122507-C-T		not specified	Uncertain significance (Feb 28, 2023)
3-154122536-A-C		not specified	Uncertain significance (Oct 12, 2022)
3-154122545-C-A		not specified	Uncertain significance (May 06, 2022)
3-154122552-C-T		not specified	Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGEF26	protein_coding	protein_coding	ENST00000356448	14	136825

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.86e-14	0.559	124562	0	85	124647	0.000341

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.02	519	458	1.13	0.0000224	5617
Missense in Polyphen		110	114.56	0.96019		1452
Synonymous	-2.80	234	186	1.26	0.00000935	1701
Loss of Function	1.60	27	37.6	0.718	0.00000203	467

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00121	0.00119
Ashkenazi Jewish	0.000211	0.000199
East Asian	0.000457	0.000445
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000309	0.000292
Middle Eastern	0.000457	0.000445
South Asian	0.000367	0.000360
Other	0.000332	0.000330

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Activates RhoG GTPase by promoting the exchange of GDP by GTP. Required for the formation of membrane ruffles during macropinocytosis. Required for the formation of cup-like structures during trans-endothelial migration of leukocytes. In case of Salmonella enterica infection, activated by SopB, which induces cytoskeleton rearrangements and promotes bacterial entry. {ECO:0000269|PubMed:15133129, ECO:0000269|PubMed:17074883, ECO:0000269|PubMed:17875742}.
• Pathway: Bacterial invasion of epithelial cells - Homo sapiens (human);MECP2 and Associated Rett Syndrome;Signaling by GPCR;Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases;NRAGE signals death through JNK;Death Receptor Signalling;p75 NTR receptor-mediated signalling;G alpha (12/13) signalling events;GPCR downstream signalling;Cell death signalling via NRAGE, NRIF and NADE (Consensus)

Intolerance Scores

• rvis_EVS: 0.58
• rvis_percentile_EVS: 82.31

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.492
• ghis: 0.478

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arhgef26
• Phenotype: 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)

Gene ontology

• Biological process: endothelial cell morphogenesis;G protein-coupled receptor signaling pathway;regulation of Rho protein signal transduction;positive regulation of apoptotic process;regulation of small GTPase mediated signal transduction;ruffle assembly
• Cellular component: ruffle;cytosol
• Molecular function: guanyl-nucleotide exchange factor activity;Rho guanyl-nucleotide exchange factor activity