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.

not_specified (123 variants)
Marfanoid_habitus_and_intellectual_disability (1 variants)
Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B14 (1 variants)

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. These statistics are base on transcript: NM_000015595.4. 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						0
missense			119 clinvar	4 clinvar		123
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)		1 clinvar				1
Total	0	1	119	4	0

Loading clinvar variants...

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

loftool
rvis_EVS: 0.58
rvis_percentile_EVS: 82.31

Haploinsufficiency Scores

pHI
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