RBCC Red Blood Cell Collection

IL4RA_HUMAN

Source: BD_CD
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: IL4R , IL4RA , 582J2.1
Protein names and data: IL4RA_HUMAN , Interleukin-4 receptor subunit alpha; IL-4 receptor subunit alpha; IL-4R subunit alpha; IL-4R-alpha; IL-4RA , CD124; Soluble interleukin-4 receptor subunit alpha; Soluble IL-4 receptor subunit alpha; Soluble IL-4R-alpha; sIL4Ralpha/prot; IL-4-binding protein; IL4-BP; Flags: Precursor Lenght: 825 a.a.
Mass: 89658 Da
fasta formatted sequence
Function: Receptor for both interleukin 4 and interleukin 13. Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation of insulin receptor substrates, IRS1/IRS2. Soluble IL4R (sIL4R) inhibits IL4-mediated cell proliferation and IL5 up-regulation by T-cells.
Cellular location: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted.
Tissue specificity: Isoform 1 and isoform 2 are highly expressed in activated T-cells.

Genetic variants

Allelic variants in IL4RA are associated with a susceptibility to atopy, an immunological condition that can lead to clinical symptoms such as allergic rhinitis, sinusitis, asthma and eczema. Allelic variants in IL4RA are associated with cedar pollen sensitization. Individuals develop Japanese cedar pollinosis with increased exposure to cedar pollen. Japanese cedar pollinosis is a type I allergic disease with ocular and nasal symptoms that develop paroxysmally on contact with Japanese cedar pollen. These symptoms, which occur seasonally each year, are typical features of allergic rhinitis, such as sneezing, excessive nasal secretion, nasal congestion, and conjunctival itching.

75 - 75 I -> F (in dbSNP:rs1805010). VAR_059302 1805010
75 - 75 I -> L (in dbSNP:rs1805010). VAR_059303 1805010
75 - 75 I -> V (associated with atopic asthma and cedar pollen sensitization; dbSNP:rs1805010). VAR_008034 1805010
387 - 387 S -> L (in dbSNP:rs6413500). VAR_019999 6413500
400 - 400 E -> A (associated with cedar pollen sensitization; dbSNP:rs1805011). VAR_011657 1805011
431 - 431 C -> R (in dbSNP:rs1805012). VAR_011658 1805012
436 - 436 S -> L (in dbSNP:rs1805013). VAR_011659 1805013
492 - 492 A -> T (in dbSNP:rs35606110). VAR_049164 35606110
492 - 492 A -> V (in dbSNP:rs34727572). VAR_049165 34727572
503 - 503 S -> P (lowered total IgE concentration; dbSNP:rs1805015). VAR_011660 1805015
576 - 576 Q -> R (associated with atopic dermatitis; lowered total IgE concentration; no effect on IL4-induced signal transduction; dbSNP:rs1801275). VAR_008035 1801275
579 - 579 V -> I (in dbSNP:rs3024677). VAR_011661 3024677
675 - 675 P -> S (in dbSNP:rs3024678). VAR_020000 3024678
752 - 752 S -> A (in dbSNP:rs1805016). VAR_011662 1805016
786 - 786 S -> P (in 1.8% of the population; dbSNP:rs1805014). VAR_011663 1805014

Database cross-references

UniProt: P24394
Ensembl: ENST00000170630
Ensembl: ENST00000395762
Ensembl: ENST00000449195
Ensembl: ENST00000543915
MIM: 147781
neXtProt: NX_P24394
Antibodypedia: P24394 (may not find the protein thus also not any antibody)
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