IL9R interleukin 9 receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL9Rprovided by HGNC
Official Full Name: interleukin 9 receptorprovided by HGNC
Primary source: HGNC:HGNC:6030
See related: Ensembl:ENSG00000124334 Ensembl:ENSG00000292373 MIM:300007; AllianceGenome:HGNC:6030
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]
Expression: Biased expression in urinary bladder (RPKM 2.4), lymph node (RPKM 1.3) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28 and Yq12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (155997696..156013020)
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (57184072..57197869)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (154225556..154239352)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (62422543..62435805)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (155227361..155240482)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (59330367..59343488)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IL-9R Loss in Type 2 Innate Lymphoid Cells Reflects Treg Impairment in Patients With Mastocytosis.
Title: IL-9R Loss in Type 2 Innate Lymphoid Cells Reflects Treg Impairment in Patients With Mastocytosis.
IL-9 and IL-9 receptor expression in lymphocytes from bronchoalveolar lavage fluid of patients with interstitial lung disease.
Title: IL-9 and IL-9 receptor expression in lymphocytes from bronchoalveolar lavage fluid of patients with interstitial lung disease.
Decreased placental IL9 and IL9R in preeclampsia impair trophoblast cell proliferation, invasion, and angiogenesis.
Title: Decreased placental IL9 and IL9R in preeclampsia impair trophoblast cell proliferation, invasion, and angiogenesis.
Thus the IL-9/IL-9R system is a new contributing factor in the cytokine network of psoriatic arthritis and rheumatoid arthritis.
Title: IL-9 receptor: Regulatory role on FLS and pannus formation.
Results show that silencing of the IL-9R gene alleviates the drug resistance of diffuse large B-cell lymphoma (DLBCL) cell lines that is induced by IL-9 suggesting that IL-9R is involved in chemotherapy drug resistance of DLBCL.
Title: Interleukin-9 promotes cell survival and drug resistance in diffuse large B-cell lymphoma.
in PsA patients gammadelta T cells activation is driven prevalently by IL-9/IL-9R interaction, and not only by IL-23/IL-23R. Together these findings indicate gammadelta T cells and IL-9 as new players in the pathogenesis of PsA.
Title: Interleukin (IL)-9/IL-9R axis drives γδ T cells activation in psoriatic arthritis patients.
The findings indicated that IL-9R was constitutively expressed and exerted a tumor-promoting effect in hepatocellular carcinoma, whose expression level may be a useful biomarker of tumor invasiveness and patient clinical outcome.
Title: High expression of IL-9R promotes the progression of human hepatocellular carcinoma and indicates a poor clinical outcome.
Confocal microscopy and fluorescence resonance energy transfer experiments revealed nonrandom association of IL-9R with IL-2R/major histocompatibility complex glycoproteins at the surface of human T lymphoma cells.
Title: Distinct spatial relationship of the interleukin-9 receptor with interleukin-2 receptor and major histocompatibility complex glycoproteins in human T lymphoma cells.
Low expression of CD39(+) /CD45RA(+) on regulatory T cells (Treg ) cells in type 1 diabetic children in contrast to high expression of CD101(+) /CD129(+) on Treg cells in children with coeliac disease.
Title: Low expression of CD39(+) /CD45RA(+) on regulatory T cells (Treg ) cells in type 1 diabetic children in contrast to high expression of CD101(+) /CD129(+) on Treg cells in children with coeliac disease.
Mice with PU.1 deficiency in T cells were protected from colitis, whereas treatment with antibody to IL-9 suppressed colitis
Title: TH9 cells that express the transcription factor PU.1 drive T cell-mediated colitis via IL-9 receptor signaling in intestinal epithelial cells.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV Vif interacts with IL9R	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69191 (e-PCR)
- UniSTS:85806

ECD15020 (e-PCR)
- UniSTS:296037

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables interleukin-9 binding	IBA Inferred from Biological aspect of Ancestor more info
enables interleukin-9 receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables interleukin-9 receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in immunoglobulin mediated immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in interleukin-9-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: interleukin-9 receptor

Names: IL-9 receptor

NCBI Reference Sequences (RefSeq)

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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_013238.2 RefSeqGene

Range

5145..18266

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002186.3 → NP_002177.2 interleukin-9 receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_002177.2

Status: REVIEWED

Description

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

Source sequence(s)

BC025298, M84747

Consensus CDS

CCDS14771.4

UniProtKB/Swiss-Prot

B9ZVT0, Q01113, Q14634, Q8WWU1, Q96TF0

Related

ENSP00000244174.5, ENSP00000518617.1, ENST00000244174.11, ENST00000711286.1
NM_176786.2 → NP_789743.2 interleukin-9 receptor isoform 2

See identical proteins and their annotated locations for NP_789743.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has multiple coding region differences, compared to variant 1, one of which results in a frameshift. it initiates translation at an alternate start codon. The resulting isoform (2) has distinct N- and C-termini and is shorter than isoform 1.

Source sequence(s)

AJ271736, BC025298

Consensus CDS

CCDS59180.1

UniProtKB/TrEMBL

I6L9D8

Related

ENSP00000358431.2, ENSP00000520932.1, ENST00000369423.8, ENST00000850823.1