IL12RB1

Chr 19p13.11

interleukin 12 receptor subunit beta 1

Aliases:: CD212
MANE:: ENST00000593993.7

OMIM: 601604 ↗NCBI: 3594 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

IL12RB1 · P42701

v62025-08-01

Predicted Aligned Error matrix for IL12RB1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.5/ 100

Confident

662 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)44%
Low(50–70)9%
Very low(< 50)15%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Familial hidradenitis suppurativa
Unknown

Disease associations (Open Targets)

immunodeficiency disease
0.41
Oral ulcer
0.41
systemic sclerosis
0.39
hereditary disease
0.19
immune system disorder
0.19
brain cancer
0.18
nervous system cancer
0.18
Familial exudative vitreoretinopathy
0.06
retinitis pigmentosa
0.06
Leber congenital amaurosis
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Interleukin-12 receptor subunit beta-1

Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Also associates with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade