IL12B (interleukin 12B)

2007-02-01 Affiliation

Identity

HGNC

IL12B

LOCATION

5q33.3

LOCUSID

3593

ALIAS

CLMF,CLMF2,IL-12B,IMD28,IMD29,NKSF,NKSF2

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3593
MIM: 161561
HGNC: 5970
Ensembl: ENSG00000113302

Variants:

dbSNP: 3593
ClinVar: 3593
TCGA: ENSG00000113302
COSMIC: IL12B

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000113302	ENST00000231228	P29460

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Cytokine-cytokine receptor interaction	KEGG	ko04060
Toll-like receptor signaling pathway	KEGG	ko04620
Jak-STAT signaling pathway	KEGG	ko04630
Type I diabetes mellitus	KEGG	ko04940
Allograft rejection	KEGG	ko05330
Cytokine-cytokine receptor interaction	KEGG	hsa04060
Toll-like receptor signaling pathway	KEGG	hsa04620
Jak-STAT signaling pathway	KEGG	hsa04630
Type I diabetes mellitus	KEGG	hsa04940
Allograft rejection	KEGG	hsa05330
RIG-I-like receptor signaling pathway	KEGG	ko04622
RIG-I-like receptor signaling pathway	KEGG	hsa04622
Leishmaniasis	KEGG	ko05140
Leishmaniasis	KEGG	hsa05140
Chagas disease (American trypanosomiasis)	KEGG	ko05142
Chagas disease (American trypanosomiasis)	KEGG	hsa05142
Amoebiasis	KEGG	ko05146
Amoebiasis	KEGG	hsa05146
Toxoplasmosis	KEGG	ko05145
Toxoplasmosis	KEGG	hsa05145
African trypanosomiasis	KEGG	ko05143
African trypanosomiasis	KEGG	hsa05143
Measles	KEGG	ko05162
Measles	KEGG	hsa05162
Tuberculosis	KEGG	ko05152
Tuberculosis	KEGG	hsa05152
Influenza A	KEGG	ko05164
Influenza A	KEGG	hsa05164
Pertussis	KEGG	ko05133
Pertussis	KEGG	hsa05133
Herpes simplex infection	KEGG	ko05168
Herpes simplex infection	KEGG	hsa05168
Legionellosis	KEGG	ko05134
Legionellosis	KEGG	hsa05134
Proteoglycans in cancer	KEGG	hsa05205
Proteoglycans in cancer	KEGG	ko05205
Inflammatory bowel disease (IBD)	KEGG	hsa05321
Inflammatory bowel disease (IBD)	KEGG	ko05321
Immune System	REACTOME	R-HSA-168256
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-12 signaling	REACTOME	R-HSA-447115
Th1 and Th2 cell differentiation	KEGG	ko04658
Th1 and Th2 cell differentiation	KEGG	hsa04658
Interleukin-4 and 13 signaling	REACTOME	R-HSA-6785807
Interleukin-10 signaling	REACTOME	R-HSA-6783783

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA10004	adalimumab	Chemical	VariantAnnotation	ambiguous	PD	27564082, 29192552
PA164713366	Tumor necrosis factor alpha (TNF-alpha) inhibitors	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD	27670765
PA166048654	ustekinumab	Chemical	ClinicalAnnotation, LabelAnnotation	associated	PD	27564082
PA445451	Psoriasis	Disease	ClinicalAnnotation, VariantAnnotation	ambiguous	PD	27564082, 27670765, 28470127, 29192552
PA449515	etanercept	Chemical	VariantAnnotation	associated	PD	28470127
PA452639	infliximab	Chemical	VariantAnnotation	associated	PD	29192552

References

Pubmed ID	Year	Title	Citations
19169254	2009	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	410
19169254	2009	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	410
19838195	2009	A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.	316
17236132	2007	A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.	285
17236132	2007	A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.	285
18369459	2008	A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.	192
18438406	2008	Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.	134
16039994	2005	Human resistin stimulates the pro-inflammatory cytokines TNF-alpha and IL-12 in macrophages by NF-kappaB-dependent pathway.	121
19169255	2009	Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.	116
19169255	2009	Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.	116

Citation

Dessen P

IL12B (interleukin 12B)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45649/il12b