IL10RA

Chr 11AR

interleukin 10 receptor subunit alpha

Also known as: CD210, CD210a, CDW210A, HIL-10R, IL-10R1, IL10R

NCBI Gene: 3587 ENSG00000110324 UniProt: Q13651 OMIM: 146933

The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Inflammatory bowel disease 28, early onset, autosomal recessiveMIM #613148

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · inflammatory bowel disease 28 · AR · ClinGen 2024

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in IL10RA?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 53

687 rare PASS variants

Rare truncating (LoF)

1 in 5,800

52 rare PASS variants

Rare synonymous (reference)

1 in 110

312 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for IL10RA. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 90	1 in 6,500
South Asian	~43k	1 in 62	≈ 1 in 14,000
Remaining (unassigned)	~30k	1 in 42	1 in 4,300
European (Finnish)	~27k	1 in 200	≈ 1 in 6,700
Admixed American	~22k	1 in 74	≈ 1 in 4,500
African / African American	~21k	1 in 80	≈ 1 in 10,000
East Asian	~20k	1 in 66	≈ 1 in 6,600
Ashkenazi Jewish	~13k	1 in 250	none seen
Middle Eastern	~2,884	1 in 72	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 7 coding exons well covered in gnomAD exomes and genomes.? see exons ↓