IL12A (interleukin 12A)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 3592
Gene name Interleukin 12A
Gene symbol IL12A
Synonyms (NCBI Gene)
CLMFIL-12ANFSKNKSF1P35
Chromosome 3
Chromosome location 3q25.33
Summary This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that
miRNA miRNA information provided by mirtarbase database.
21
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (21)
miRTarBase ID miRNA Experiments Reference
MIRT030009 hsa-miR-26b-5p Microarray 19088304
MIRT208864 hsa-miR-21-5p MicroarrayqRT-PCR 22815788
MIRT208864 hsa-miR-21-5p Luciferase reporter assayWestern blot 25327529
MIRT208864 hsa-miR-21-5p Luciferase reporter assayqRT-PCRWestern blot 27571873
MIRT1063591 hsa-miR-1237 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (5)
Transcription factor Regulation Reference
IRF1 Unknown 16622221
IRF8 Unknown 16622221
JUN Unknown 22904313
NFKB1 Activation 18690006
RELA Activation 18690006
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
Gene SNPs Transcription factors Other IDs Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IDA 1674604, 2204066
GO:0002860 Process Positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target IDA 7903063
GO:0005125 Function Cytokine activity IBA
GO:0005125 Function Cytokine activity IDA 1674604
GO:0005125 Function Cytokine activity IDA 7584494
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
161560 5969 ENSG00000168811
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29459
Protein name Interleukin-12 subunit alpha (IL-12A) (Cytotoxic lymphocyte maturation factor 35 kDa subunit) (CLMF p35) (IL-12 subunit p35) (NK cell stimulatory factor chain 1) (NKSF1)
Protein function Heterodimerizes with IL12B to form the IL-12 cytokine or with EBI3/IL27B to form the IL-35 cytokine (PubMed:8605935, PubMed:8943050). IL-12 is primarily produced by professional antigen-presenting cells (APCs) such as B-cells and dendritic cells
PDB 1F45 , 3HMX , 8XRP , 8YI7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03039 IL12 6 → 219 Interleukin-12 alpha subunit Domain
Sequence
Sequence length 219
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Gene SNPs Transcription factors Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (15)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Behcet disease — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (208)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 31142509
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 31142509
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease BEFREE 15917097
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 28912154
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 20350312
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 21107304 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 20350312 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 21825040
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only