IL5RA

protein-coding

interleukin 5 receptor subunit alpha, the group of CD molecules|Interleukin receptors

Gene summary

The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]

Previous symbols:

IL5R

MANE transcript

NM_175726.4

Inheritance

—

ClinVar variants

U:63B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.69

Max pathogenic AF

—

Genomic locus

chr3:3,066,324-3,126,613

External References & Databases

Ensembl (ENSG00000091181)

Transcript & Mutation Effects

hg38 • Region Span ~60.3 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 IL5RA variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 67

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_175726.4. 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				1 clinvar	1 clinvar	2
missense			62 clinvar	5 clinvar		67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	63	6	1	70

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_175726.4	RefSeq	NP_783853.1	10	MANE Select
ENST00000446632.7	Ensembl	ENSP00000412209.2	10	MANE Select
NM_000564.5	RefSeq	NP_000555.2	10	Standard
NM_001243099.2	RefSeq	NP_001230028.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Jak-STAT signaling pathway - Homo sapiens (human)
Pathways in cancer - Homo sapiens (human)
Hematopoietic cell lineage - Homo sapiens (human)
Cytokine-cytokine receptor interaction - Homo sapiens (human)
JAK-STAT-Core

Biological Process

MAPK cascade
inflammatory response to antigenic stimulus
signal transduction
cell population proliferation
peptidyl-tyrosine phosphorylation

Molecular Function

protein tyrosine kinase activity
cytokine receptor activity
interleukin-5 receptor activity
Ras guanyl-nucleotide exchange factor activity
protein binding

Cellular Component

extracellular space
plasma membrane
external side of plasma membrane
integral component of membrane
receptor complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000446632
Coding exons: 10
Length: 57065
Individuals with no LoFs: 125683
Homozygous LoFs: 0
Heterozygous LoFs: 64
Defined: 125747
p: 0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.594	247	222	1.11	0.0000110	2756
Missense (PolyPhen)		51	54.773	0.93112		701
Synonymous	0.0674	80	80.8	0.990	0.00000443	784
Loss of Function	1.36	15	21.9	0.685	0.00000101	265

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00044	0.00044	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00036	0.00036	rare
South Asian	0.00014	0.00013	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: This is the receptor for interleukin-5. The alpha chain binds to IL5.;

Recessive Scores

pRec: 0.208

Intolerance Scores

LoFtool: 0.166
RVIS EVS: 0.31
RVIS percentile EVS: 72.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.896

Gene Damage Prediction

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