EVA1A

protein-coding

eva-1 homolog A, regulator of programmed cell death

Gene summary

Predicted to act upstream of or within several processes, including TOR signaling; cardiac left ventricle morphogenesis; and connective tissue replacement. Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

TMEM166
FAM176A

MANE transcript

NM_001135032.2

Inheritance

—

ClinVar variants

U:29B:6

Top phenotype

EVA1A-related disorder

gnomAD constraint

pLI —, LoF o/e 0.52

Max pathogenic AF

—

Genomic locus

chr2:75,469,302-75,569,722

External References & Databases

Ensembl (ENSG00000115363)

Transcript & Mutation Effects

hg38 • Region Span ~100.4 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 EVA1A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 32

EVA1A-related disorderTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001135032.2. 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				1 clinvar		1
missense			29 clinvar	4 clinvar	1 clinvar	34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	29	5	1	35

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 128 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001135032.2	RefSeq	NP_001128504.1	2	MANE Select
ENST00000393913.8	Ensembl	ENSP00000377490.3	2	MANE Select
NM_001369524.1	RefSeq	NP_001356453.1	2	Standard
NM_001369525.1	RefSeq	NP_001356454.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational protein phosphorylation
Post-translational protein modification
Metabolism of proteins
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

Biological Process

autophagy
apoptotic process
post-translational protein modification
cellular protein metabolic process

Cellular Component

lysosomal membrane
endoplasmic reticulum lumen
endoplasmic reticulum membrane
plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000233712
Coding exons: 2
Length: 100421
Individuals with no LoFs: 125716
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 125724
p: 0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.331	95	105	0.909	0.00000745	995
Missense (PolyPhen)		46	52.877	0.86994		483
Synonymous	-0.221	47	45.1	1.04	0.00000323	311
Loss of Function	0.883	2	3.88	0.516	2.34e-7	46

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000035	0.000035	rare
South Asian	0.000036	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis. {ECO:0000269|PubMed:17492404, ECO:0000269|PubMed:19029833}.;

Recessive Scores

pRec: 0.107

Intolerance Scores

RVIS EVS: 0.26
RVIS percentile EVS: 70.06

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N

Gene Damage Prediction

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