ERI2

protein-coding

ERI1 exoribonuclease family member 2, the group of Exonucleases|Zinc fingers GRF-type

Gene summary

Predicted to enable 3'-5'-RNA exonuclease activity. Predicted to be involved in exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and negative regulation of regulatory ncRNA-mediated heterochromatin formation. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

EXOD1

MANE transcript

NM_001142725.2

Inheritance

—

ClinVar variants

U:88B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.66

Max pathogenic AF

—

Genomic locus

chr16:20,780,193-20,900,349

External References & Databases

Ensembl (ENSG00000196678)

Transcript & Mutation Effects

hg38 • Region Span ~120.2 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 ERI2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 92

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001142725.2. 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			2 clinvar			2
missense			85 clinvar	9 clinvar		94
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	88	9	0	97

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001142725.2	RefSeq	NP_001136197.1	9	MANE Select
ENST00000357967.9	Ensembl	ENSP00000350651.4	9	MANE Select
NM_080663.3	RefSeq	NP_542394.2	11	Standard
ENST00000300005.7	Ensembl	ENSP00000300005.3	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

DNA metabolic process
RNA phosphodiester bond hydrolysis, exonucleolytic

Molecular Function

3'-5'-exoribonuclease activity
nucleic acid binding
zinc ion binding
single-stranded DNA 3'-5' exodeoxyribonuclease activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000357967
Coding exons: 9
Length: 120157
Individuals with no LoFs: 125668
Homozygous LoFs: 0
Heterozygous LoFs: 72
Defined: 125740
p: 0.000286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.50	260	338	0.770	0.0000156	4534
Missense (PolyPhen)		64	89.478	0.71526		1143
Synonymous	2.85	80	120	0.669	0.00000581	1282
Loss of Function	1.66	19	28.6	0.664	0.00000130	403

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00058	0.00058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00055	0.00054	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00022	0.00022	rare
South Asian	0.00033	0.00033	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0705

Intolerance Scores

LoFtool: 0.547
RVIS EVS: 1.6
RVIS percentile EVS: 95.87

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.381

Gene Damage Prediction

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