IL5

Chr 5

interleukin 5

Also known as: EDF, IL-5, TRF

NCBI Gene: 3567 ENSG00000113525 UniProt: P05113 OMIM: 147850

This gene encodes a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. The encoded cytokine plays a major role in the regulation of eosinophil formation, maturation, recruitment and survival. The increased production of this cytokine may be related to pathogenesis of eosinophil-dependent inflammatory diseases. This cytokine functions by binding to its receptor, which is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on chromosome 5 within a cytokine gene cluster which includes interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene, IL4, and IL13 may be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. [provided by RefSeq, Jul 2013]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

119

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.46

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.46LOEUF

pLI 0.006

Z-score 0.81

OE 0.65 (0.32–1.46)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.11Z-score

OE missense 1.04 (0.86–1.26)

72 obs / 69.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.65 (0.32–1.46)

0≤0.351.4

Missense OE?1.04 (0.86–1.26)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 4 / 6.2Missense obs/exp: 72 / 69.4Syn Z: -0.04

Background carrier burden — how many people carry a rare variant somewhere in IL5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 440

186 rare PASS variants

Rare truncating (LoF)

1 in 6,100

35 rare PASS variants

Rare synonymous (reference)

1 in 430

63 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for IL5. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 550	1 in 6,900
South Asian	~43k	1 in 480	1 in 4,400
Remaining (unassigned)	~30k	1 in 600	1 in 980
European (Finnish)	~27k	1 in 1,300	1 in 5,300
Admixed American	~22k	1 in 220	1 in 3,900
African / African American	~21k	1 in 390	≈ 1 in 5,600
East Asian	~20k	1 in 240	none seen
Ashkenazi Jewish	~13k	≈ 1 in 6,500	≈ 1 in 7,200
Middle Eastern	~2,884	≈ 1 in 720	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 3 of 4 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 4.? see exons ↓