ARHGEF37

protein-coding

Rho guanine nucleotide exchange factor 37, the group of BAR and Dbl domain containing|Dbl family Rho GEFs

Gene summary

Predicted to enable guanyl-nucleotide exchange factor activity. Involved in clathrin-dependent endocytosis. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001001669.3

Inheritance

—

ClinVar variants

U:111B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr5:149,551,947-149,634,968

External References & Databases

Ensembl (ENSG00000183111)

Transcript & Mutation Effects

hg38 • Region Span ~83.0 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 ARHGEF37 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 107

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001001669.3. 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			1 clinvar	3 clinvar		4
missense			108 clinvar	4 clinvar		112
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	111	7	0	118

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 31 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001001669.3	RefSeq	NP_001001669.2	12	MANE Select
ENST00000333677.7	Ensembl	ENSP00000328083.6	12	MANE Select
ENST00000505810.5	Ensembl	ENSP00000425621.1	2	Standard
ENST00000857359.1	Ensembl	ENSP00000527418.1	12	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

regulation of Rho protein signal transduction

Molecular Function

Rho guanyl-nucleotide exchange factor activity

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000333677
Coding exons: 12
Length: 83022
Individuals with no LoFs: 123336
Homozygous LoFs: 9
Heterozygous LoFs: 1479
Defined: 124824
p: 0.00598

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.271	372	387	0.961	0.0000221	4349
Missense (PolyPhen)		106	112.83	0.9395		1403
Synonymous	2.07	133	167	0.796	0.00000963	1388
Loss of Function	1.25	23	30.4	0.755	0.00000138	348

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0012	0.0012	notable
Latino/Admixed American	0.0034	0.0035	notable
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.00073	0.00072	rare
Finnish	0.016	0.016	notable
European (Non-Finnish)	0.0082	0.0081	notable
South Asian	0.0011	0.0010	notable
Other	0.0066	0.0066	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May act as a guanine nucleotide exchange factor (GEF). {ECO:0000250}.;

Intolerance Scores

RVIS EVS: 1.18
RVIS percentile EVS: 92.83

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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