Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The Common R71H-G230A-R293Q Human TMEM173 Is a Null Allele.

Journal of immunology (Baltimore, Md. : 1950) - 15 Jan 2017

Patel Seema, Blaauboer Steven M, Tucker Heidi R, Mansouri Samira, Ruiz-Moreno Juan Sebastian, Hamann Lutz, Schumann Ralf R, Opitz Bastian, Jin Lei

Abstract excerpt

TMEM173 encodes MPYS/STING and is an innate immune sensor for cyclic dinucleotides (CDNs) playing a critical role in infection, inflammation, and cancer. The R71H-G230A-R293Q (HAQ) of TMEM173 is the second most common human TMEM173 allele. In this study, using data from the 1000 Genomes Project we found that homozygous HAQ individuals account for ∼16.1% of East Asians and ∼2.8% of Europeans whereas Africans have...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Gene Knock-In Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Immunity, Innate

Share to Membrane Proteins

Share to Mice, Inbred C57BL

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 27927967
DOI: 10.4049/jimmunol.1601585
PMCID: PMC5225030

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Common R71H-G230A-R293Q Human TMEM173 Is a Null Allele.PMID 27927967Read ↗

TMEM173 variants and potential importance to human biology and disease.Semantic proximity Read ↗

The common H232 STING allele shows impaired activities in DNA sensing, susceptibility to viral infection, and in monocyte cell function, while the HAQ variant possesses wild-type properties.Semantic proximity Read ↗

Single nucleotide polymorphisms of human STING can affect innate immune response to cyclic dinucleotides.Semantic proximity Read ↗

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.Semantic proximity Read ↗

Identification and characterization of a loss-of-function human MPYS variant.Semantic proximity Read ↗

The common <i>TMEM173 HAQ, AQ</i> alleles rescue CD4 T cellpenia, restore T-regs, and prevent <i>SAVI (N153S)</i> inflammatory disease in miceSemantic proximity Read ↗

The common HAQ STING variant impairs cGAS-dependent antibacterial responses and is associated with susceptibility to Legionnaires' disease in humans.Semantic proximity Read ↗

Characterization of novel TMEM173 mutation with additive IFIH1 risk alleleSemantic proximity Read ↗

Selective Loss of Responsiveness to Exogenous but Not Endogenous Cyclic-Dinucleotides in Mice Expressing STING-R231H.Semantic proximity Read ↗

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.Semantic proximity Read ↗

Dysregulated Airway Host Defense in Hyper IgE Syndrome due to STAT3 MutationsSemantic proximity Read ↗

The common Sting1 HAQ, AQ alleles rescue CD4 T cellpenia, restore T-regs, and prevent SAVI (N153S) inflammatory disease in mice.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.