IFI35

protein-coding

interferon induced protein 35

Gene summary

Enables identical protein binding activity. Involved in several processes, including macrophage activation involved in immune response; negative regulation of non-canonical NF-kappaB signal transduction; and positive regulation of defense response. Located in several cellular components, including cytosol; nuclear lumen; and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001330230.2

Inheritance

—

ClinVar variants

U:54B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.82

Max pathogenic AF

—

Genomic locus

chr17:43,006,740-43,014,456

External References & Databases

Ensembl (ENSG00000068079)

Transcript & Mutation Effects

hg38 • Region Span ~7.7 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 IFI35 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 52

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001330230.2. 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						0
missense			49 clinvar	5 clinvar		54
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	54	5	0	59

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001330230.2	RefSeq	NP_001317159.1	7	MANE Select
ENST00000415816.7	Ensembl	ENSP00000394579.3	7	MANE Select
NM_005533.5	RefSeq	NP_005524.2	7	Standard
ENST00000438323.2	Ensembl	ENSP00000395590.2	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

The human immune response to tuberculosis
Cytokine Signaling in Immune system
Immune System
Interferon alpha/beta signaling
Interferon Signaling

Biological Process

type I interferon signaling pathway

Molecular Function

protein binding

Cellular Component

nucleus
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000438323
Coding exons: 7
Length: 7732
Individuals with no LoFs: 125443
Homozygous LoFs: 3
Heterozygous LoFs: 302
Defined: 125748
p: 0.00121

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.245	173	164	1.05	0.00000971	1827
Missense (PolyPhen)		49	47.439	1.0329		560
Synonymous	0.280	71	74.1	0.959	0.00000464	609
Loss of Function	0.604	11	13.4	0.822	7.28e-7	145

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0015	0.0015	notable
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.000055	0.000054	rare
Finnish	0.0022	0.0022	notable
European (Non-Finnish)	0.0018	0.0018	notable
South Asian	0.00057	0.00052	rare
Other	0.0011	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Not yet known.;

Recessive Scores

pRec: 0.0982

Intolerance Scores

LoFtool: 0.916
RVIS EVS: 0.31
RVIS percentile EVS: 72.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.907

Gene Damage Prediction

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