IL9R interleukin 9 receptor [Homo sapiens] - Gene

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Summary

Official Symbol: IL9Rprovided by HGNC
Official Full Name: interleukin 9 receptorprovided by HGNC
Primary source: HGNC:6030
See related: Ensembl:ENSG00000124334; HPRD:02052; MIM:300007; Vega:OTTHUMG00000022720
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CD129; IL-9R
Summary: The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: Xq28 and Yq12

Sequence :: Chromosome: Y; NC_000024.9 (59330252..59343488); Chromosome: X; NC_000023.10 (155227246..155240482)

See IL9R in Epigenomics, MapViewer

Chromosome X - NC_000023.10 Genomic Context describing neighboring genes

Chromosome Y - NC_000024.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

analysis of IL-9 and IL-9 receptor gene polymorphisms and atopic dermatitis in a Korean population
Title: An association between IL-9 and IL-9 receptor gene polymorphisms and atopic dermatitis in a Korean population.
There is an association of at least 2 X-chromosomal genes with rheumatoid arthritis: TIMP1 and IL9R.
Title: Association of the X-chromosomal genes TIMP1 and IL9R with rheumatoid arthritis.
These results reveal a regulatory function for IFN-gamma and IL-10 on modulating the inducible IL-9Ralpha expression levels on peripheral blood neutrophils by T(H)2 cytokines.
Title: T(H)2 cytokines modulate the IL-9R expression on human neutrophils.
IL-9Ralpha and IL-2Rbeta homodimers efficiently mediate constitutive activation of ALL-associated JAK1 mutants.
Title: Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Association between IL-1A single nucleotide polymorphisms and chronic beryllium disease and beryllium sensitization.
Observational study of gene-disease association. (HuGE Navigator)
Title: A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).
the preformed complexes between gamma c and IL-2Rbeta or IL-9Ralpha promote signaling by the JAK3 A572V mutant without ligand, identified in several human cancers.
Title: Ligand-independent homomeric and heteromeric complexes between interleukin-2 or -9 receptor subunits and the gamma chain.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.
primary ATL cells, via IL-9, support the action of IL-9Ralpha/CD14-expressing monocytes, which subsequently support the ex vivo spontaneous proliferation of malignant T cells
Title: Induction of the IL-9 gene by HTLV-I Tax stimulates the spontaneous proliferation of primary adult T-cell leukemia cells by a paracrine mechanism.
IL-9R alpha was expressed on human tonsillar B cells, with an ability to transduce signals through activation of signal transducer and activator of transcription 3 and 5.
Title: Expression of IL-9 receptor alpha chain on human germinal center B cells modulates IgE secretion.

Submit: New GeneRIF Correction See all (14)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q01113	P31785	IL2RG	HPRD	PubMed
Q01113	P15248	IL9	HPRD	PubMed
Q01113	P23458	JAK1	HPRD	PubMed
Q01113	Q92993	KAT5	HPRD	PubMed
Q01113	P63104	YWHAZ	HPRD	PubMed
BioGRID:109795	BioGRID:109919	JAK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109795	BioGRID:113366	YWHAZ	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid

Function	Evidence Code	Pubs
interleukin-9 receptor activity	TAS Traceable Author Statement more info	PubMed
receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell proliferation	TAS Traceable Author Statement more info	PubMed
signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
extracellular region	IEA Inferred from Electronic Annotation more info
extracellular space	TAS Traceable Author Statement more info	PubMed
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: interleukin-9 receptor

Names: interleukin-9 receptor; IL-9 receptor

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013238.1 RefSeqGene

Range

5001..18237

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002186.2 → NP_002177.2 interleukin-9 receptor isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represent the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC025298, M84747

Consensus CDS

CCDS14771.4

UniProtKB/Swiss-Prot

Q01113

Related

ENSP00000244174, OTTHUMP00000024332, ENST00000244174, OTTHUMT00000058981
NM_176786.1 → NP_789743.2 interleukin-9 receptor isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' and 3' UTR and has multiple coding region differences, compared to variant 1. Some of these differences result in translational frameshifts. The resulting isoform (2) has distinct N- and C-termini and is shorter than isoform 1.

Source sequence(s)

AJ271736, BC025298

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000023.10 Reference GRCh37.p5 Primary Assembly

Range

155227246..155240482

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

143710176..143723407

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AJ271736.1	CAB96817.1
genomic	AY071830.1	AAL55435.1
genomic	CH471247.1	EAW55884.1
		EAW55885.1
		EAW55886.1
genomic	L39064.1	AAC29513.1
genomic	S71420.1	AAD14081.1
mRNA	AK303178.1	BAG64273.1
mRNA	BC025298.1	None
mRNA	BC051337.1	AAH51337.1
mRNA	M84747.1	AAA58679.1
mRNA	S71404.1	AAB30844.2
other-genetic	HQ447710.1	ADQ32195.1