EOLA2

protein-coding

endothelium and lymphocyte associated ASCH domain 2

Gene summary

Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

CXorf40B

MANE transcript

NM_001013845.2

Inheritance

—

ClinVar variants

U:3B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.02

Max pathogenic AF

—

Genomic locus

chrX:149,929,527-149,938,700

External References & Databases

Ensembl (ENSG00000197021)

Transcript & Mutation Effects

hg38 • Region Span ~9.2 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 EOLA2 variants in ClinVar

2 Conditions Cataloged

not providedTotal: 4

not specifiedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001013845.2. 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		3
missense			2 clinvar	1 clinvar		3
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	3	4	0	7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 121 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001013845.2	RefSeq	NP_001013867.1	2	MANE Select
ENST00000370406.8	Ensembl	ENSP00000359434.3	2	MANE Select
NM_001437940.1	RefSeq	NP_001424869.1	3	Standard
NM_001438792.1	RefSeq	NP_001425721.1	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370406
Coding exons: 2
Length: 9285
Individuals with no LoFs: 125488
Homozygous LoFs: 7
Heterozygous LoFs: 26
Defined: 125521
p: 0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.639	81	66.3	1.22	0.00000555	1008
Missense (PolyPhen)		21	17.078	1.2297		293
Synonymous	-0.543	31	27.4	1.13	0.00000228	327
Loss of Function	-0.0315	2	1.95	1.02	1.23e-7	34

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00023	0.00019	rare
Latino/Admixed American	0.00044	0.00035	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00012	0.000092	rare
European (Non-Finnish)	0.00015	0.00011	rare
South Asian	0.000053	0.000033	rare
Other	0.00068	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.504
RVIS EVS: 0.75
RVIS percentile EVS: 86.48

Essentials

Essential (CRISPR): N
Essential (gene trap): N

Gene Damage Prediction

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