IL5RA

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

Basic information

Region (hg38): 3:3066324-3126613

Previous symbols: [ "IL5R" ]

Links

ENSG00000091181 ∙ NCBI:3568 ∙ OMIM:147851 ∙ HGNC:6017 ∙ Uniprot:Q01344 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL5RA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL5RA gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			25	3		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	25	3	1

Variants in IL5RA

This is a list of pathogenic ClinVar variants found in the IL5RA region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-3070286-A-G		not specified	Uncertain significance (May 08, 2024)
3-3070292-G-A		not specified	Uncertain significance (Dec 13, 2022)
3-3070302-A-G		not specified	Uncertain significance (Jun 11, 2024)
3-3074834-A-G		not specified	Uncertain significance (Mar 07, 2023)
3-3076550-G-C		not specified	Uncertain significance (Jan 03, 2024)
3-3076588-A-G		not specified	Uncertain significance (Sep 26, 2023)
3-3076618-T-G		not specified	Uncertain significance (Dec 18, 2023)
3-3092253-C-A		not specified	Uncertain significance (Aug 14, 2023)
3-3092279-G-C		not specified	Uncertain significance (Feb 15, 2023)
3-3092295-A-G		not specified	Uncertain significance (Apr 04, 2024)
3-3092313-G-C		not specified	Uncertain significance (Oct 05, 2023)
3-3095313-T-G		not specified	Uncertain significance (Jun 22, 2021)
3-3095318-G-T		not specified	Uncertain significance (May 04, 2023)
3-3097862-G-A			Benign (Jul 16, 2018)
3-3097884-G-C		not specified	Uncertain significance (Mar 01, 2023)
3-3097939-G-T		not specified	Uncertain significance (Jun 06, 2023)
3-3097956-C-G		not specified	Uncertain significance (May 30, 2022)
3-3098008-C-A		not specified	Uncertain significance (Jan 23, 2023)
3-3098043-G-T		not specified	Uncertain significance (May 11, 2022)
3-3098154-C-G		not specified	Uncertain significance (Jul 20, 2021)
3-3098158-G-A		not specified	Uncertain significance (May 26, 2024)
3-3098200-A-T		not specified	Uncertain significance (May 21, 2024)
3-3098218-C-T		not specified	Uncertain significance (Jul 22, 2022)
3-3098226-T-C			Benign (Jul 07, 2018)
3-3098256-G-C		not specified	Uncertain significance (Nov 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL5RA	protein_coding	protein_coding	ENST00000446632	10	57065

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.68e-8	0.737	125683	0	64	125747	0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.594	247	222	1.11	0.0000110	2756
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000291	0.000291
Ashkenazi Jewish	0.00	0.00
East Asian	0.000436	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.000363	0.000360
Middle Eastern	0.000436	0.000435
South Asian	0.000140	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This is the receptor for interleukin-5. The alpha chain binds to IL5.
• Pathway: 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;IL-5 Signaling Pathway;IL-3 Signaling Pathway;Inflammatory Response Pathway;Signaling by GPCR;Signal Transduction;Signaling by Interleukins;Cytokine Signaling in Immune system;JAK STAT MolecularVariation 1;Immune System;Interleukin receptor SHC signaling;Interleukin-2 family signaling;IL5-mediated signaling events;IL-5 signaling;JAK STAT MolecularVariation 2;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;JAK STAT pathway and regulation;IL5;G beta:gamma signalling through PI3Kgamma;G-protein beta:gamma signalling;GPCR downstream signalling;Interleukin-3, 5 and GM-CSF signaling (Consensus)

Recessive Scores

• pRec: 0.208

Intolerance Scores

• loftool: 0.166
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.6

Haploinsufficiency Scores

• pHI: 0.266
• hipred: Y
• hipred_score: 0.512

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.896

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il5ra
• Phenotype: immune system phenotype; renal/urinary system phenotype; hematopoietic system phenotype; neoplasm

Gene ontology

• Biological process: MAPK cascade;inflammatory response to antigenic stimulus;signal transduction;cell population proliferation;peptidyl-tyrosine phosphorylation;cytokine-mediated signaling pathway;regulation of interleukin-5 production;interleukin-5-mediated signaling pathway
• Cellular component: extracellular space;plasma membrane;external side of plasma membrane;integral component of membrane;receptor complex
• Molecular function: protein tyrosine kinase activity;cytokine receptor activity;interleukin-5 receptor activity;Ras guanyl-nucleotide exchange factor activity;protein binding;cytokine binding