IFRD2

protein-coding

interferon related developmental regulator 2, the group of Armadillo like helical domain containing

Gene summary

Enables ribosome binding activity and translation repressor activity. Involved in negative regulation of translation. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_006764.5

Inheritance

—

ClinVar variants

U:94B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr3:50,287,732-50,292,918

External References & Databases

Ensembl (ENSG00000214706)

Transcript & Mutation Effects

hg38 • Region Span ~5.2 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 IFRD2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 85

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006764.5. 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			86 clinvar	4 clinvar	1 clinvar	91
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	94	4	1	99

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 70 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006764.5	RefSeq	NP_006755.5	12	MANE Select
ENST00000417626.8	Ensembl	ENSP00000402849.4	12	MANE Select
ENST00000414734.5	Ensembl	ENSP00000413726.1	3	Standard
ENST00000426499.5	Ensembl	ENSP00000408549.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

molecular_function
protein binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000429673
Coding exons: 12
Length: 5187
Individuals with no LoFs: 124888
Homozygous LoFs: 0
Heterozygous LoFs: 26
Defined: 124914
p: 0.000104

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.153	305	313	0.976	0.0000200	3138
Missense (PolyPhen)		123	128.48	0.95735		1275
Synonymous	-1.24	146	128	1.14	0.00000744	1091
Loss of Function	1.17	17	23.1	0.737	0.00000108	255

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000066	0.000063	rare
Latino/Admixed American	0.000088	0.000087	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00014	0.00013	rare
South Asian	0.00010	0.000098	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.140

Intolerance Scores

RVIS EVS: 0.2
RVIS percentile EVS: 67.36

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Indispensability pred.: E
Indispensability score: 0.942

Gene Damage Prediction

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