IL12RB1 interleukin 12 receptor subunit beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL12RB1provided by HGNC
Official Full Name: interleukin 12 receptor subunit beta 1provided by HGNC
Primary source: HGNC:HGNC:5971
See related: Ensembl:ENSG00000096996 MIM:601604; AllianceGenome:HGNC:5971
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: CD212; IMD30; IL12RB; IL-12R-BETA1
Summary: The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Expression: Biased expression in lymph node (RPKM 5.0), spleen (RPKM 4.1) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (18058995..18098816, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (18193086..18232890, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (18169805..18209626, complement)

Chromosome 19 - NC_000019.10 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 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?

Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.
Title: Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.
IL12RB1 allele bias in human TH cells is regulated by functional SNPs in its 3'UTR.
Title: IL12RB1 allele bias in human T(H) cells is regulated by functional SNPs in its 3'UTR.
Novel IL-12Rbeta1 deficiency-mediates recurrent cutaneous leishmaniasis.
Title: Novel IL-12Rβ1 deficiency-mediates recurrent cutaneous leishmaniasis.
Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation.
Title: Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation.
Novel nonsense IL-12Rbeta1 mutation associated with recurrent tuberculosis.
Title: Novel nonsense IL-12Rβ1 mutation associated with recurrent tuberculosis.
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.
IL12Rbeta1 deficiency must be regarded as a possible defect in patients suffering from unusual sensitivity to intracellular bacteria, which can be easily assessed primarily using flow cytometry
Title: Mendelian susceptibility to mycobacterial disease: Clinical and immunological findings of patients suspected for IL12Rβ1 deficiency.
Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease.
Title: Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease.
The IL12RB1 locus is Alu-enriched and therefore prone to rearrangements at various positions. CNVs should be considered in the genetic diagnosis of IL-12Rbeta1 deficiency.
Title: A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Our data demonstrates that low serum IL-12 levels may be associated with high risk human papillomavirus (hrHPV) susceptibility but are not associated with IL-12 gene polymorphisms; furthermore, IL-12 and IL12R gene polymorphisms may not contribute susceptibility to hrHPV in rural women from Luohe, Henan, China.
Title: Associations of IL-12, IL12R polymorphisms and serum IL-12 levels with high-risk human papillomavirus susceptibility in rural women from Luohe, Henan, China.

Submit: New GeneRIF Correction See all GeneRIFs (68)

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

Associated conditions

Description	Tests
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency MedGen: C4013949 OMIM: 614891 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients. 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

D10S16 (e-PCR)
- UniSTS:155756

D1S1425 (e-PCR)
- UniSTS:149621

D11S3114 (e-PCR)
- UniSTS:152207

RH66781 (e-PCR)
- UniSTS:47762

SHGC-156161 (e-PCR)
- UniSTS:185287

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
contributes_to interleukin-12 receptor activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to interleukin-12 receptor binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to interleukin-23 binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to interleukin-23 receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to type II interferon	IDA Inferred from Direct Assay more info	PubMed
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytokine-mediated signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in interleukin-12-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-23-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell mediated cytotoxicity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T-helper 1 type immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T-helper 1 type immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T-helper 17 cell lineage commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T-helper 17 type immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of activated T cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of defense response to virus by host	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of defense response to virus by host	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of memory T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of type II interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of interleukin-12 receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of interleukin-23 receptor complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IC Inferred by Curator more info	PubMed
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-1

Names: IL-12 receptor beta component; IL-12 receptor subunit beta-1; IL-12R subunit beta-1; cluster of differentiation 212; interleukin 12 receptor, beta 1; interleukin-12 receptor beta-1 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_007366.2 RefSeqGene

Range

5134..44955

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_72

mRNA and Protein(s)

NM_001290023.2 → NP_001276952.1 interleukin-12 receptor subunit beta-1 isoform 3 precursor

See identical proteins and their annotated locations for NP_001276952.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the use of an alternate promoter and has multiple differences compared to variant 4, one of which results in a translational frameshift. These differences result in distinct 5' and 3' UTRs and the use of a downstream start codon, causing the encoded isoform (3, also known as Short) to contain a shorter N-terminus and a distinct C-terminus compared to isoform 4.

Source sequence(s)

AC020904, AI637915, BC137406, BX647221, DA008204

UniProtKB/Swiss-Prot

P42701

Conserved Domains (1) summary

cd00063
Location:447 → 537

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_001290024.1 → NP_001276953.1 interleukin-12 receptor subunit beta-1 isoform 4

See identical proteins and their annotated locations for NP_001276953.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) encodes the longest isoform (4).

Source sequence(s)

AC020904, BX647221

Conserved Domains (1) summary

cd00063
Location:487 → 577

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_005535.3 → NP_005526.1 interleukin-12 receptor subunit beta-1 isoform 1 precursor

See identical proteins and their annotated locations for NP_005526.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the use of an alternate promoter, differs in the 5' UTR and uses a downstream start codon compared to variant 4. The encoded isoform (1, also known as Long) has a shorter N-terminus compared to isoform 4.

Source sequence(s)

AC020904, AI637915, BX647221, DA008204, U03187

Consensus CDS

CCDS54232.1

UniProtKB/Swiss-Prot

A8K308, B2RPF1, B7ZKK3, P42701, Q8N6Q7

Related

ENSP00000472165.2, ENST00000593993.7

Conserved Domains (1) summary

cd00063
Location:447 → 537

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_153701.3 → NP_714912.1 interleukin-12 receptor subunit beta-1 isoform 2 precursor

See identical proteins and their annotated locations for NP_714912.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the use of an alternate promoter, differs in the 5' UTR and has a different 3' structure which results in a translational frameshift and an early stop codon compared to variant 4. The encoded isoform (2) has a shorter N-terminus and a distinct C-terminus compared to isoform 4.

Source sequence(s)

AC020904, BC029121, DA008204

Consensus CDS

CCDS32957.1

UniProtKB/Swiss-Prot

P42701

Related

ENSP00000314425.5, ENST00000322153.11

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

18058995..18098816 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527975.3 → XP_011526277.1 interleukin-12 receptor subunit beta-1 isoform X13

Conserved Domains (1) summary

cd00063
Location:487 → 577

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_011527969.3 → XP_011526271.1 interleukin-12 receptor subunit beta-1 isoform X4

Conserved Domains (1) summary

cd00063
Location:487 → 577

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_006722741.4 → XP_006722804.2 interleukin-12 receptor subunit beta-1 isoform X7

Conserved Domains (1) summary

cd00063
Location:487 → 577

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_011527967.3 → XP_011526269.1 interleukin-12 receptor subunit beta-1 isoform X2

Conserved Domains (1) summary

cd00063
Location:494 → 584

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_047438767.1 → XP_047294723.1 interleukin-12 receptor subunit beta-1 isoform X6
XM_047438770.1 → XP_047294726.1 interleukin-12 receptor subunit beta-1 isoform X12
XM_011527968.4 → XP_011526270.1 interleukin-12 receptor subunit beta-1 isoform X3

Conserved Domains (1) summary

cd00063
Location:491 → 581

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_047438768.1 → XP_047294724.1 interleukin-12 receptor subunit beta-1 isoform X10
XM_011527972.4 → XP_011526274.1 interleukin-12 receptor subunit beta-1 isoform X9

Conserved Domains (1) summary

cd00063
Location:498 → 588

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_011527966.3 → XP_011526268.1 interleukin-12 receptor subunit beta-1 isoform X1

Conserved Domains (1) summary

cd00063
Location:498 → 588

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_011527971.4 → XP_011526273.1 interleukin-12 receptor subunit beta-1 isoform X8

Conserved Domains (1) summary

cd00063
Location:498 → 588

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_011527970.3 → XP_011526272.1 interleukin-12 receptor subunit beta-1 isoform X5

Conserved Domains (1) summary

cd00063
Location:498 → 588

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_047438769.1 → XP_047294725.1 interleukin-12 receptor subunit beta-1 isoform X11
XM_047438772.1 → XP_047294728.1 interleukin-12 receptor subunit beta-1 isoform X15
XM_047438771.1 → XP_047294727.1 interleukin-12 receptor subunit beta-1 isoform X14
XM_017026762.2 → XP_016882251.1 interleukin-12 receptor subunit beta-1 isoform X17
XM_011527976.3 → XP_011526278.1 interleukin-12 receptor subunit beta-1 isoform X16

Conserved Domains (1) summary

cd00063
Location:498 → 588

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_011527977.3 → XP_011526279.1 interleukin-12 receptor subunit beta-1 isoform X21
XM_047438774.1 → XP_047294730.1 interleukin-12 receptor subunit beta-1 isoform X19
XM_047438775.1 → XP_047294731.1 interleukin-12 receptor subunit beta-1 isoform X20
XM_047438773.1 → XP_047294729.1 interleukin-12 receptor subunit beta-1 isoform X18

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

18193086..18232890 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320880.1 → XP_054176855.1 interleukin-12 receptor subunit beta-1 isoform X13
XM_054320871.1 → XP_054176846.1 interleukin-12 receptor subunit beta-1 isoform X4
XM_054320874.1 → XP_054176849.1 interleukin-12 receptor subunit beta-1 isoform X7
XM_054320869.1 → XP_054176844.1 interleukin-12 receptor subunit beta-1 isoform X2
XM_054320873.1 → XP_054176848.1 interleukin-12 receptor subunit beta-1 isoform X6
XM_054320879.1 → XP_054176854.1 interleukin-12 receptor subunit beta-1 isoform X12
XM_054320870.1 → XP_054176845.1 interleukin-12 receptor subunit beta-1 isoform X3
XM_054320877.1 → XP_054176852.1 interleukin-12 receptor subunit beta-1 isoform X10
XM_054320876.1 → XP_054176851.1 interleukin-12 receptor subunit beta-1 isoform X9
XM_054320868.1 → XP_054176843.1 interleukin-12 receptor subunit beta-1 isoform X1
XM_054320875.1 → XP_054176850.1 interleukin-12 receptor subunit beta-1 isoform X8
XM_054320872.1 → XP_054176847.1 interleukin-12 receptor subunit beta-1 isoform X5
XM_054320878.1 → XP_054176853.1 interleukin-12 receptor subunit beta-1 isoform X11
XM_054320882.1 → XP_054176857.1 interleukin-12 receptor subunit beta-1 isoform X15
XM_054320881.1 → XP_054176856.1 interleukin-12 receptor subunit beta-1 isoform X14
XM_054320884.1 → XP_054176859.1 interleukin-12 receptor subunit beta-1 isoform X17
XM_054320883.1 → XP_054176858.1 interleukin-12 receptor subunit beta-1 isoform X16
XM_054320888.1 → XP_054176863.1 interleukin-12 receptor subunit beta-1 isoform X21
XM_054320886.1 → XP_054176861.1 interleukin-12 receptor subunit beta-1 isoform X19
XM_054320887.1 → XP_054176862.1 interleukin-12 receptor subunit beta-1 isoform X20
XM_054320885.1 → XP_054176860.1 interleukin-12 receptor subunit beta-1 isoform X18