ARHGEF17

protein-coding

Rho guanine nucleotide exchange factor 17, the group of Dbl family Rho GEFs

Gene summary

Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within actin cytoskeleton organization. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_014786.4

Inheritance

—

ClinVar variants

U:365B:33

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.19

Max pathogenic AF

—

Genomic locus

chr11:73,308,276-73,369,388

External References & Databases

Ensembl (ENSG00000110237)

Transcript & Mutation Effects

hg38 • Region Span ~61.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ARHGEF17 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 365

not providedTotal: 22

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014786.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	7 clinvar	2 clinvar	12
missense			349 clinvar	23 clinvar	1 clinvar	373
nonsense			4 clinvar			4
start loss						0
frameshift			3 clinvar			3
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	365	30	3	398

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014786.4	RefSeq	NP_055601.2	21	MANE Select
ENST00000263674.4	Ensembl	ENSP00000263674.3	21	MANE Select
ENST00000544519.1	Ensembl	ENSP00000441135.1	2	Standard
ENST00000643371.1	Ensembl	ENSP00000493940.1	21	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signaling by GPCR
Signal Transduction
Rho GTPase cycle
Signaling by Rho GTPases
NRAGE signals death through JNK

Biological Process

G protein-coupled receptor signaling pathway
actin cytoskeleton organization
regulation of Rho protein signal transduction
positive regulation of apoptotic process
regulation of small GTPase mediated signal transduction

Molecular Function

guanyl-nucleotide exchange factor activity
Rho guanyl-nucleotide exchange factor activity

Cellular Component

cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263674
Coding exons: 21
Length: 60803
Individuals with no LoFs: 125713
Homozygous LoFs: 0
Heterozygous LoFs: 33
Defined: 125746
p: 0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.750	1176	1.25e+3	0.940	0.0000790	13131
Missense (PolyPhen)		334	390.98	0.85426		4268
Synonymous	-1.53	576	531	1.08	0.0000342	4528
Loss of Function	6.66	15	78.8	0.190	0.00000472	799

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0.000098	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. {ECO:0000269|PubMed:12071859}.;

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.412
RVIS EVS: -0.75
RVIS percentile EVS: 13.75

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.620

Gene Damage Prediction

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