IFI16

Chr 1

interferon gamma inducible protein 16

Also known as: IFNGIP1, PYHIN2

NCBI Gene: 3428ENSG00000163565UniProt: Q16666

This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]

ResearchGenerating clinical summary…
4
Active trials
93
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.03
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.03LOEUF
pLI 0.000
Z-score 1.43
OE 0.72 (0.51–1.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.57Z-score
OE missense 0.92 (0.84–1.00)
351 obs / 382.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.51–1.03)
0≤0.351.4
Missense OE?0.92 (0.84–1.00)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 21 / 29.3Missense obs/exp: 351 / 382.1Syn Z: -0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IFI16 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients