Gene Gene information from NCBI Gene database.
Entrez ID 3593
Gene name Interleukin 12B
Gene symbol IL12B
Synonyms (NCBI Gene)
CLMFCLMF2IL-12BIMD28IMD29NKSFNKSF2
Chromosome 5
Chromosome location 5q33.3
Summary This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encode
miRNA miRNA information provided by mirtarbase database.
50
miRTarBase ID miRNA Experiments Reference
MIRT715156 hsa-miR-3614-3p HITS-CLIP 19536157
MIRT715155 hsa-miR-4705 HITS-CLIP 19536157
MIRT715154 hsa-miR-103b HITS-CLIP 19536157
MIRT715153 hsa-miR-6511a-3p HITS-CLIP 19536157
MIRT715152 hsa-miR-6511b-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
12
Transcription factor Regulation Reference
EP300 Activation 15482860
ETS2 Unknown 10657616
IRF1 Unknown 10657616
JUN Activation 14688340
KLF1 Unknown 14976188
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
110
GO ID Ontology Definition Evidence Reference
GO:0001817 Process Regulation of cytokine production TAS 1673147
GO:0001912 Process Positive regulation of leukocyte mediated cytotoxicity IEA
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IEA
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity ISS
GO:0002230 Process Positive regulation of defense response to virus by host IDA 12421946
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
161561 5970 ENSG00000113302
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29460
Protein name Interleukin-12 subunit beta (IL-12B) (Cytotoxic lymphocyte maturation factor 40 kDa subunit) (CLMF p40) (IL-12 subunit p40) (NK cell stimulatory factor chain 2) (NKSF2)
Protein function Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC. ; Assoc
PDB 1F42 , 1F45 , 3D85 , 3D87 , 3DUH , 3HMX , 3QWR , 4GRW , 5MJ3 , 5MJ4 , 5MXA , 5MZV , 5NJD , 6UIB , 6WDQ , 8CR8 , 8OE4 , 8XRP , 8YI7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10420 IL12p40_C 126 216 Cytokine interleukin-12p40 C-terminus Domain
Sequence
MCHQQLVISWFSLVFLASPLVAIWELKKDVYVVELDWYPDAPGEMVVLTCDTPEEDGITW
TLDQSSEVLGSGKTLTIQVKEFGDAGQYTCHKGGEVLSHSLLLLHKKEDGIWSTDILKDQ
KEPKNKTFLRCEAKNYSGRFTCWWLTTISTDLTFSVKSSRGSSDPQGVTCGAATLSAERV
RGDNKEYEYSVECQEDSACPAAEESLPIEVMVDAVH
KLKYENYTSSFFIRDIIKPDPPKN
LQLKPLKNSRQVEVSWEYPDTWSTPHSYFSLTFCVQVQGKSKREKKDRVFTDKTSATVIC
RKNASISVRAQDRYYSSSWSEWASVPCS
Sequence length 328
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
IL12B-related disorder Likely pathogenic; Pathogenic rs748215576 RCV003396354
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Pathogenic; Likely pathogenic rs771036480, rs2113025865, rs786201006, rs1754121564, rs587776807, rs867933096, rs1380231411, rs1562113567, rs748215576, rs763190982, rs1290071275 RCV001783475
RCV001930198
RCV000162204
RCV003586641
RCV000015098
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
ANKYLOSING SPONDYLITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, PSORIATIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 9339364, 9624537
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 31142509
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 31593700
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 24529168
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 29566963
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy Pubtator 32359032 Associate
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 31142509
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 21767511, 31277552
★☆☆☆☆
Found in Text Mining only
Aicardi Goutieres syndrome Aicardi goutieres syndrome Pubtator 23408864 Associate
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 11704807, 19274925, 26663019
★☆☆☆☆
Found in Text Mining only