ECT2L

protein-coding

epithelial cell transforming 2 like, the group of Dbl family Rho GEFs|F-boxes other

Gene summary

Predicted to enable guanyl-nucleotide exchange factor activity. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C6orf91

MANE transcript

NM_001077706.3

Inheritance

—

ClinVar variants

U:147B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.22

Max pathogenic AF

—

Genomic locus

chr6:138,795,911-138,904,070

External References & Databases

Ensembl (ENSG00000203734)

Transcript & Mutation Effects

hg38 • Region Span ~108.2 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 ECT2L variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 146

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001077706.3. 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			1
missense			135 clinvar	7 clinvar		142
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	147	7	0	154

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001077706.3	RefSeq	NP_001071174.1	20	MANE Select
ENST00000541398.7	Ensembl	ENSP00000442307.2	20	MANE Select
NM_001195037.2	RefSeq	NP_001181966.1	20	Standard
ENST00000367682.6	Ensembl	ENSP00000356655.2	20	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of Rho protein signal transduction

Molecular Function

Rho guanyl-nucleotide exchange factor activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000423192
Coding exons: 20
Length: 108145
Individuals with no LoFs: 122072
Homozygous LoFs: 39
Heterozygous LoFs: 2683
Defined: 124794
p: 0.0110

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.111	462	469	0.986	0.0000239	5926
Missense (PolyPhen)		118	127.01	0.92904		1642
Synonymous	-0.0246	178	178	1.00	0.00000974	1667
Loss of Function	-1.49	65	53.3	1.22	0.00000270	630

Population LoF Frequency

Population	CAF	p-value	Status
African	0.024	0.024	notable
Latino/Admixed American	0.0062	0.0061	notable
Ashkenazi Jewish	0.0053	0.0053	notable
East Asian	0.031	0.030	notable
Finnish	0.0046	0.0046	notable
European (Non-Finnish)	0.0064	0.0064	notable
South Asian	0.024	0.023	notable
Other	0.0078	0.0078	notable

dbNSFP Gene Annotations

Source: dbNSFP

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

Intolerance Scores

LoFtool: 0.982
RVIS EVS: 2.85
RVIS percentile EVS: 99.12

Essentials

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

Gene Damage Prediction

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