IL12B (interleukin 12B)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (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
Gene SNPs Transcription factors Other IDs Associated diseases
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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
Gene SNPs Transcription factors Other IDs Associated diseases
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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.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
161561 5970 ENSG00000113302
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.
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
RGDNKEYEYSVECQEDSACPAAEESLPIEVMVDAVHKLKYENYTSSFFIRDIIKPDPPKN
LQLKPLKNSRQVEVSWEYPDTWSTPHSYFSLTFCVQVQGKSKREKKDRVFTDKTSATVIC
RKNASISVRAQDRYYSSSWSEWASVPCS
Sequence length 328
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
209
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
IL12B-related disorder Likely pathogenic; Pathogenic rs748215576 RCV003396354
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
RCV003747830
RCV003748787
RCV000692446
RCV000779470
RCV001050613
RCV001246117
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Uncertain significance rs142017503 RCV005863620
Familial Atypical Mycobacteriosis, Autosomal Recessive Uncertain significance; Benign rs56081148, rs886060351, rs34324765, rs530595443, rs886060353 RCV000264186
RCV000307793
RCV000319287
RCV000343502
RCV000322801
RCV000373911
Inherited susceptibility to mycobacterial diseases Likely benign rs1754133712 RCV002290426
Show/Hide Text Mining Associations (395)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 31277552
Achondroplasia and Swiss type agammaglobulinemia Associate 12823285
Acne Vulgaris Stimulate 38009017
Acquired Immunodeficiency Syndrome Associate 10419892
Acute Disease Associate 24696530
Adenocarcinoma Associate 30785523, 37713401
Adenocarcinoma of Lung Associate 26264617, 31004093, 34745015, 36157452
Adenocarcinoma of Lung Inhibit 37658534
Adenoma Stimulate 17579859
Adenoma Associate 23442743