IL12RB2 interleukin 12 receptor subunit beta 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL12RB2provided by HGNC
Official Full Name: interleukin 12 receptor subunit beta 2provided by HGNC
Primary source: HGNC:HGNC:5972
See related: Ensembl:ENSG00000081985 MIM:601642; AllianceGenome:HGNC:5972
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
Summary: The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012]
Expression: Broad expression in placenta (RPKM 2.3), brain (RPKM 0.9) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (67307364..67398724)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (67181083..67276270)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (67773047..67864407)

Chromosome 1 - NC_000001.11 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?

Association between gene polymorphisms of IL-12, IL-12 receptor and IL-27 and organ involvement in Iranian endometriosis patients.
Title: Association between gene polymorphisms of IL-12, IL-12 receptor and IL-27 and organ involvement in Iranian endometriosis patients.
Role of Genetic Polymorphisms in IL12Rbeta2 in Chronic Obstructive Pulmonary Disease.
Title: Role of Genetic Polymorphisms in IL12Rβ2 in Chronic Obstructive Pulmonary Disease.
Expressions of IL-12 and its receptors in patients with lumbar disc herniation and their relationship with clinical efficacy.
Title: Expressions of IL-12 and its receptors in patients with lumbar disc herniation and their relationship with clinical efficacy.
Mutation analysis showed three previously reported mutations, two novel mutations in IL-12 R (beta1/beta2), and one previously reported mutation in IL-12 Mendelian Susceptibility to Mycobacterial Disease patients.
Title: Characterization of two novel mutations in IL-12R signaling in MSMD patients.
we analyzed common variants located in genes of the IL12/STAT4 and IL10/STAT3 signaling pathways in patients with myasthenia gravis.
Title: Evidence for association of STAT4 and IL12RB2 variants with Myasthenia gravis susceptibility: What is the effect on gene expression in thymus?
The Cox proportional hazard models revealed that IL12Rb2 and p38MAPK predicted a long OS. To the best of our knowledge, the present study is the first to reveal a close association between IL12Rb2 and p38MAPK, and their possible function in nonsmall cell lung cancer progression
Title: The close association between IL‑12Rβ2 and p38MAPK, and higher expression in the early stages of NSCLC, indicates a good prognosis for survival.
Tumor cell differentiation is associated with TILs' expression of IL-12Rbeta2, and an IL-12Rbeta2(+) TIL ratio >/=35%) indicates favorable prognosis in LC
Title: A high ratio of IL-12Rβ2-positive tumor-infiltrating lymphocytes indicates favorable prognosis in laryngeal cancer.
inhibition of the H3K27 demethylase JMJD3 in naive CD4 T cells demonstrates how critically important molecules required for T cell differentiation, such as JAK2 and IL12RB2, are regulated by H3K27me3.
Title: H3K27 Methylation Dynamics during CD4 T Cell Activation: Regulation of JAK/STAT and IL12RB2 Expression by JMJD3.
this study identified susceptibility single nucleotide polymorphisms in IL12RB2 with Behcet's disease in Han Chinese
Title: Identification of susceptibility SNPs in IL10 and IL23R-IL12RB2 for Behçet's disease in Han Chinese.
In ankylosing spondylitis, conditional analysis identified rs11209032 as the probable causal single-nucleotide polymorphism within a 1.14 kb putative enhancer between IL23R and IL12RB2. The rs11209032 single-nucleotide polymorphism downstream of IL23R forms part of an enhancer, allelic variation of which may influence Th1-cell numbers.
Title: An ankylosing spondylitis-associated genetic variant in the IL23R-IL12RB2 intergenic region modulates enhancer activity and is associated with increased Th1-cell differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (49)

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

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Beh&#x000e7;et's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Beh&#x000c3;&#x000a7;et's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-154067 (e-PCR)
- UniSTS:182020

SHGC-74960 (e-PCR)
- UniSTS:5018

SHGC-149599 (e-PCR)
- UniSTS:177105

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables coreceptor activity	IDA Inferred from Direct Assay more info	PubMed
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine receptor activity	TAS Traceable Author Statement more info	PubMed
enables protein kinase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in interleukin-12-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of type II interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: interleukin-12 receptor subunit beta-2

Names: IL-12 receptor subunit beta-2; IL-12R subunit beta-2; interleukin 12 receptor, beta 2; interleukin-12 receptor beta-2 chain

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_032977.2 RefSeqGene

Range

5523..96374

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_707

mRNA and Protein(s)

NM_001258214.1 → NP_001245143.1 interleukin-12 receptor subunit beta-2 isoform b precursor

See identical proteins and their annotated locations for NP_001245143.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate coding exon compared to variant 1, that causes a frameshift. Variants 2 and 7 encode the same isoform (b), which has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AK294494, AL358512, AL389925, DA223630, DB126833, U64198

Consensus CDS

CCDS58006.1

UniProtKB/TrEMBL

B4DGA4, B7ZB60

Related

ENSP00000360039.1, ENST00000371000.5

Conserved Domains (3) summary

cd00063
Location:423 → 511

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:28 → 110

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:127 → 179

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001258215.1 → NP_001245144.1 interleukin-12 receptor subunit beta-2 isoform c precursor

See identical proteins and their annotated locations for NP_001245144.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AL358512, AL389925, BC143249, DB126833, U64198

Consensus CDS

CCDS58007.1

UniProtKB/Swiss-Prot

Q99665

Related

ENSP00000442443.1, ENST00000544434.5

Conserved Domains (3) summary

cd00063
Location:423 → 529

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:28 → 110

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:127 → 179

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001258216.1 → NP_001245145.1 interleukin-12 receptor subunit beta-2 isoform d precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate coding exons compared to variant 1, that causes a frameshift. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AL358512, AL389925, BC143250, DB126833, U64198

Consensus CDS

CCDS72805.1

UniProtKB/TrEMBL

A0A8Q3SIS8, A0A8Q3SIX0

Related

ENSP00000512853.1, ENST00000696755.1

Conserved Domains (3) summary

cd00063
Location:423 → 511

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:28 → 110

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:127 → 179

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001319233.1 → NP_001306162.1 interleukin-12 receptor subunit beta-2 isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, resulting in a frameshift and an early stop codon, compared to variant 1. Variants 2 and 7 encode the same isoform (b), which has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AK294494, AK316525, AL358512, AL389925, BC143248, U64198

Consensus CDS

CCDS58006.1

UniProtKB/TrEMBL

B4DGA4, B7ZB60

Conserved Domains (3) summary

cd00063
Location:423 → 511

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:28 → 110

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:127 → 179

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001374259.2 → NP_001361188.1 interleukin-12 receptor subunit beta-2 isoform a precursor

Status: REVIEWED

Source sequence(s)

AL358512, AL389925

Consensus CDS

CCDS638.1

UniProtKB/Swiss-Prot

B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665

Related

ENSP00000501329.1, ENST00000674203.2

Conserved Domains (2) summary

cd00063
Location:423 → 511

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:28 → 110

Lep_receptor_Ig; Ig-like C2-type domain
NM_001559.3 → NP_001550.1 interleukin-12 receptor subunit beta-2 isoform a precursor

See identical proteins and their annotated locations for NP_001550.1

Status: REVIEWED

Description

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

Source sequence(s)

AL358512, AL389925

Consensus CDS

CCDS638.1

UniProtKB/Swiss-Prot

B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665

Related

ENSP00000262345.1, ENST00000262345.5

Conserved Domains (2) summary

cd00063
Location:423 → 511

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:28 → 110

Lep_receptor_Ig; Ig-like C2-type domain

RNA

NR_047583.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame exon and lacks another alternate coding exon compared to variant 1, that causes a frameshift. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is therefore thought to be non-protein coding.

Source sequence(s)

AL358512, AL389925, BC143248, DB126833, U64198
NR_047584.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) contains an alternate exon compared to variant 1, that causes a frameshift. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is therefore thought to be non-protein coding.

Source sequence(s)

AL358512, AL389925, BC143252, DB126833, U64198

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

67307364..67398724

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011541384.3 → XP_011539686.1 interleukin-12 receptor subunit beta-2 isoform X2

Conserved Domains (3) summary

cd00063
Location:423 → 511

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:28 → 110

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:127 → 179

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_006710617.3 → XP_006710680.1 interleukin-12 receptor subunit beta-2 isoform X3

See identical proteins and their annotated locations for XP_006710680.1

UniProtKB/Swiss-Prot

Q99665

Conserved Domains (3) summary

cd00063
Location:423 → 529

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:28 → 110

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:127 → 179

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_005270827.3 → XP_005270884.1 interleukin-12 receptor subunit beta-2 isoform X1

See identical proteins and their annotated locations for XP_005270884.1

UniProtKB/Swiss-Prot

B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665

Related

ENSP00000497959.1, ENST00000648487.1

Conserved Domains (2) summary

cd00063
Location:423 → 511

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:28 → 110

Lep_receptor_Ig; Ig-like C2-type domain
XM_017001203.2 → XP_016856692.1 interleukin-12 receptor subunit beta-2 isoform X4

UniProtKB/TrEMBL

B4DGA4, B7ZB60

Related

ENSP00000512854.1, ENST00000696757.1

Conserved Domains (3) summary

cd00063
Location:423 → 511

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:28 → 110

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:127 → 179

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_047419665.1 → XP_047275621.1 interleukin-12 receptor subunit beta-2 isoform X2
XM_047419669.1 → XP_047275625.1 interleukin-12 receptor subunit beta-2 isoform X5

Related

ENSP00000445276.3, ENST00000541374.6
XM_005270828.4 → XP_005270885.1 interleukin-12 receptor subunit beta-2 isoform X1

See identical proteins and their annotated locations for XP_005270885.1

UniProtKB/Swiss-Prot

B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665

Conserved Domains (2) summary

cd00063
Location:423 → 511

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:28 → 110

Lep_receptor_Ig; Ig-like C2-type domain
XM_047419668.1 → XP_047275624.1 interleukin-12 receptor subunit beta-2 isoform X4
XM_047419666.1 → XP_047275622.1 interleukin-12 receptor subunit beta-2 isoform X2
XM_047419667.1 → XP_047275623.1 interleukin-12 receptor subunit beta-2 isoform X3
XM_011541383.3 → XP_011539685.1 interleukin-12 receptor subunit beta-2 isoform X1

See identical proteins and their annotated locations for XP_011539685.1

UniProtKB/Swiss-Prot

B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665

Conserved Domains (2) summary

cd00063
Location:423 → 511

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:28 → 110

Lep_receptor_Ig; Ig-like C2-type domain
XM_047419670.1 → XP_047275626.1 interleukin-12 receptor subunit beta-2 isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

67181083..67276270

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336407.1 → XP_054192382.1 interleukin-12 receptor subunit beta-2 isoform X1

UniProtKB/Swiss-Prot

B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665
XM_054336408.1 → XP_054192383.1 interleukin-12 receptor subunit beta-2 isoform X1

UniProtKB/Swiss-Prot

B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665
XM_054336410.1 → XP_054192385.1 interleukin-12 receptor subunit beta-2 isoform X2
XM_054336409.1 → XP_054192384.1 interleukin-12 receptor subunit beta-2 isoform X1

UniProtKB/Swiss-Prot

B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665
XM_054336411.1 → XP_054192386.1 interleukin-12 receptor subunit beta-2 isoform X6