IL12A (interleukin 12A) - Rat Genome Database

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Gene: IL12A (interleukin 12A) Homo sapiens
Analyze
Symbol: IL12A
Name: interleukin 12A
RGD ID: 1351047
HGNC Page HGNC:5969
Description: Enables interleukin-12 beta subunit binding activity; interleukin-27 binding activity; and protein heterodimerization activity. Contributes to cytokine activity and growth factor activity. Involved in several processes, including positive regulation of leukocyte mediated cytotoxicity; positive regulation of lymphocyte activation; and response to bacterium. Acts upstream of or within negative regulation of protein secretion. Part of interleukin-12 complex. Is active in extracellular space. Implicated in hepatitis C; hepatocellular carcinoma; and primary biliary cholangitis. Biomarker of hepatitis C.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CLMF; CLMF p35; cytotoxic lymphocyte maturation factor 1, p35; cytotoxic lymphocyte maturation factor 35 kDa subunit; IL-12 subunit p35; IL-12, subunit p35; IL-12A; IL35 subunit; interleukin 12, p35; interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35); interleukin-12 alpha chain; interleukin-12 subunit alpha; natural killer cell stimulatory factor 1, 35 kD subunit; NF cell stimulatory factor chain 1; NFSK; NK cell stimulatory factor chain 1; NKSF1; P35
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383159,988,835 - 159,996,019 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3159,988,835 - 159,996,019 (+)EnsemblGRCh38hg38GRCh38
GRCh373159,706,622 - 159,713,806 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363161,189,323 - 161,196,500 (+)NCBINCBI36Build 36hg18NCBI36
Build 343161,189,330 - 161,196,507NCBI
Celera3158,128,398 - 158,135,579 (+)NCBICelera
Cytogenetic Map3q25.33NCBI
HuRef3157,102,994 - 157,110,193 (+)NCBIHuRef
CHM1_13159,669,641 - 159,676,836 (+)NCBICHM1_1
T2T-CHM13v2.03162,763,550 - 162,770,734 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-bis(4-hydroxyphenyl)propionitrile  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-tert-butylhydroquinone  (EXP)
3',5'-cyclic AMP  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-iodobenzyl-5'-N-methylcarboxamidoadenosine  (EXP)
3-methylcholanthrene  (EXP)
3-phenylprop-2-enal  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-methylhistamine  (EXP)
4-nitroquinoline N-oxide  (ISO)
7,12-dimethyltetraphene  (ISO)
9-cis-retinoic acid  (EXP)
acetylsalicylic acid  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
anthranilic acid  (EXP)
antimony(0)  (ISO)
apilimod  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
atorvastatin calcium  (EXP)
azathioprine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[ghi]perylene  (EXP)
beta-D-glucan  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (ISO)
betulin  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
cannabidiol  (ISO)
carbamate ester  (EXP)
carbamazepine  (ISO)
carvedilol  (EXP)
casticin  (EXP)
CGS-21680  (EXP)
chlorophyllin  (ISO)
chloroprene  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
colforsin daropate hydrochloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (EXP)
curcumin  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
daidzein  (ISO)
deoxynivalenol  (EXP,ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
diazinon  (EXP)
dichlorine  (ISO)
diltiazem  (EXP)
Dimaprit  (EXP)
dioxygen  (EXP)
doxorubicin  (ISO)
esketamine  (EXP)
estriol  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
eugenol  (ISO)
famotidine  (EXP)
fumigaclavine C  (ISO)
fumonisin B1  (EXP)
Ganoderic acid C2  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glucuronoxylomannan  (EXP)
glycyrrhizinic acid  (ISO)
helenalin  (EXP)
histamine  (EXP)
hydrogen peroxide  (ISO)
Ibudilast  (ISO)
imiquimod  (ISO)
indole-3-methanol  (EXP)
indometacin  (ISO)
iron atom  (EXP)
iron dichloride  (EXP)
iron(0)  (EXP)
isocyanates  (EXP)
isoniazide  (EXP)
isoprenaline  (ISO)
kainic acid  (ISO)
ketamine  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
leukotriene D4  (EXP)
lipid As  (EXP)
lipopolysaccharide  (EXP,ISO)
lupane  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP,ISO)
mangiferin  (ISO)
mechlorethamine  (ISO)
melphalan  (EXP)
mercury dichloride  (ISO)
metam  (ISO)
methotrexate  (EXP)
methyl 3,4,5-trihydroxybenzoate  (ISO)
methyl isothiocyanate  (ISO)
methyl methanesulfonate  (EXP)
MK-2206  (EXP)
montelukast  (EXP)
morphine  (ISO)
muramyl dipeptide  (EXP)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (EXP)
neocuproine  (ISO)
nickel sulfate  (EXP)
niclosamide  (EXP)
nicotine  (ISO)
nonanoic acid  (ISO)
Nutlin-3  (EXP)
o-anisidine  (EXP)
ochratoxin A  (EXP)
ozone  (EXP,ISO)
paclitaxel  (ISO)
paracetamol  (ISO)
PCB138  (EXP)
phorbol 12,13-dibutanoate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (EXP)
polymyxin B2  (ISO)
prednisone  (EXP)
pristane  (ISO)
progesterone  (EXP,ISO)
prostaglandin E2  (EXP)
raloxifene  (EXP)
ranitidine  (EXP)
resiquimod  (EXP,ISO)
resveratrol  (EXP,ISO)
ribavirin  (EXP)
Ro 41-5253  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 203580  (EXP,ISO)
silicon dioxide  (ISO)
sirolimus  (ISO)
stattic  (EXP)
sulfasalazine  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
thalidomide  (EXP)
theophylline  (EXP)
titanium dioxide  (EXP)
toluene  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (EXP)
tunicamycin  (EXP)
urethane  (ISO)
warfarin  (ISO)
wortmannin  (EXP)
zearalenone  (EXP)
zileuton  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cell migration  (IDA)
cell population proliferation  (ISO)
cellular response to lipopolysaccharide  (ISO)
defense response to Gram-positive bacterium  (IEP)
defense response to protozoan  (ISO)
extrinsic apoptotic signaling pathway  (IDA)
immune response  (IEA,TAS)
interleukin-12-mediated signaling pathway  (IDA)
negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis  (IGI)
negative regulation of interleukin-17 production  (IDA)
negative regulation of protein secretion  (IGI)
negative regulation of smooth muscle cell proliferation  (IDA)
negative regulation of vascular endothelial growth factor signaling pathway  (IGI)
positive regulation of cell adhesion  (IDA)
positive regulation of dendritic cell chemotaxis  (IMP)
positive regulation of lymphocyte proliferation  (IDA)
positive regulation of mononuclear cell proliferation  (IMP)
positive regulation of natural killer cell activation  (IDA)
positive regulation of natural killer cell mediated cytotoxicity  (IDA)
positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target  (IDA)
positive regulation of NK T cell activation  (IDA)
positive regulation of smooth muscle cell apoptotic process  (IDA)
positive regulation of T cell differentiation  (ISO)
positive regulation of T cell mediated cytotoxicity  (IDA)
positive regulation of T cell proliferation  (ISO)
positive regulation of type II interferon production  (IDA,ISO)
positive regulation of tyrosine phosphorylation of STAT protein  (IDA)
response to granulocyte colony-stimulating factor  (ISO)
response to lipopolysaccharide  (IDA)
response to UV-B  (IDA)
response to virus  (IEP)
signal transduction  (IEA)
T cell proliferation  (ISO)
T-helper 1 cell activation  (ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
AA amyloidosis  (IAGP)
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal circulating lipid concentration  (IAGP)
Abnormal intrahepatic bile duct morphology  (IAGP)
Abnormal myocardium morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of the thyroid gland  (IAGP)
Acne  (IAGP)
Anorexia  (IAGP)
Antimitochondrial antibody positivity  (IAGP)
Antinuclear antibody positivity  (IAGP)
Aortic regurgitation  (IAGP)
Arterial thrombosis  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Ascites  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autoimmunity  (IAGP)
Avascular necrosis  (IAGP)
Biliary cirrhosis  (IAGP)
Blindness  (IAGP)
Cataract  (IAGP)
Celiac disease  (IAGP)
Cerebral ischemia  (IAGP)
Cirrhosis  (IAGP)
Confusion  (IAGP)
Conjugated hyperbilirubinemia  (IAGP)
Cranial nerve paralysis  (IAGP)
Dermatographic urticaria  (IAGP)
Developmental regression  (IAGP)
Diarrhea  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating C-reactive protein concentration  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Elevated gamma-glutamyltransferase level  (IAGP)
Endocarditis  (IAGP)
Epididymitis  (IAGP)
Erythema nodosum  (IAGP)
Esophageal varix  (IAGP)
Excessive daytime somnolence  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Gait disturbance  (IAGP)
Gangrene  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Gastrointestinal inflammation  (IAGP)
Genital ulcers  (IAGP)
Glomerulonephritis  (IAGP)
Glomerulopathy  (IAGP)
Growth abnormality  (IAGP)
Headache  (IAGP)
Hemiparesis  (IAGP)
Hemoptysis  (IAGP)
Hepatic encephalopathy  (IAGP)
Hepatic failure  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatitis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hepatomegaly  (IAGP)
Hypercholesterolemia  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypoalbuminemia  (IAGP)
Immunologic hypersensitivity  (IAGP)
Increased circulating IgA concentration  (IAGP)
Increased circulating IgM level  (IAGP)
Increased inflammatory response  (IAGP)
Increased intracranial pressure  (IAGP)
Infectious encephalitis  (IAGP)
Irritability  (IAGP)
Jaundice  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Lymphadenopathy  (IAGP)
Malabsorption  (IAGP)
Memory impairment  (IAGP)
Meningitis  (IAGP)
Migraine  (IAGP)
Mitral regurgitation  (IAGP)
Myalgia  (IAGP)
Myocardial infarction  (IAGP)
Myocarditis  (IAGP)
Myositis  (IAGP)
Nausea and vomiting  (IAGP)
Non-infectious meningitis  (IAGP)
Nongranulomatous uveitis  (IAGP)
Onychomycosis  (IAGP)
Optic neuritis  (IAGP)
Oral ulcer  (IAGP)
Orchitis  (IAGP)
Orthostatic hypotension  (IAGP)
Osteoporosis  (IAGP)
Pancreatitis  (IAGP)
Panuveitis  (IAGP)
Papule  (IAGP)
Paresthesia  (IAGP)
Pericarditis  (IAGP)
Photophobia  (IAGP)
Pleural effusion  (IAGP)
Pleuritis  (IAGP)
Portal hypertension  (IAGP)
Positive pathergy test  (IAGP)
Pruritus  (IAGP)
Pulmonary embolism  (IAGP)
Pulmonary infiltrates  (IAGP)
Pustule  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Recurrent fever  (IAGP)
Recurrent fungal infections  (IAGP)
Renal insufficiency  (IAGP)
Retinopathy  (IAGP)
Retrobulbar optic neuritis  (IAGP)
Seizure  (IAGP)
Sleep abnormality  (IAGP)
Splenomegaly  (IAGP)
Steatorrhea  (IAGP)
Subcutaneous nodule  (IAGP)
Superficial thrombophlebitis  (IAGP)
Vasculitis  (IAGP)
Venous thrombosis  (IAGP)
Vertigo  (IAGP)
Weight loss  (IAGP)
Xanthelasma  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Calcineurin inhibitors and the IL12A locus influence risk of recurrent primary biliary cirrhosis after liver transplantation. Carbone M, etal., Am J Transplant. 2013 Apr;13(4):1110-1111. doi: 10.1111/ajt.12132. Epub 2013 Feb 22.
2. IL12 Gene Polymorphism in Association with Hepatocellular Carcinoma in HCV-infected Egyptian Patients. Elsayed HM, etal., Immunol Invest. 2017 Feb;46(2):123-133. doi: 10.1080/08820139.2016.1229789. Epub 2016 Nov 7.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. IL-12p35-deficient mice are susceptible to experimental autoimmune encephalomyelitis: evidence for redundancy in the IL-12 system in the induction of central nervous system autoimmune demyelination. Gran B, etal., J Immunol 2002 Dec 15;169(12):7104-10.
5. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. Hirschfield GM, etal., N Engl J Med. 2009 Jun 11;360(24):2544-55. doi: 10.1056/NEJMoa0810440. Epub 2009 May 20.
6. Serum levels of Interleukins 1-Alpha & 12 as Predictors of Disease Progression in Hepatitis C Diabetic Patients. Khalil M, etal., Egypt J Immunol. 2018 Jan;25(1):181-190.
7. Association of IL12A Expression Quantitative Trait Loci (eQTL) With Primary Biliary Cirrhosis in a Chinese Han Population. Li P, etal., Medicine (Baltimore). 2016 May;95(19):e3665. doi: 10.1097/MD.0000000000003665.
8. IL12 polymorphisms, HBV infection and risk of hepatocellular carcinoma in a high-risk Chinese population. Liu L, etal., Int J Cancer. 2011 Apr 1;128(7):1692-6. doi: 10.1002/ijc.25488. Epub 2010 Jun 2.
9. IL-12 contributes to allergen-induced airway inflammation in experimental asthma. Meyts I, etal., J Immunol. 2006 Nov 1;177(9):6460-70.
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Immunomodulatory effects of viral TLR ligands on experimental asthma depend on the additive effects of IL-12 and IL-10. Sel S, etal., J Immunol. 2007 Jun 15;178(12):7805-13.
15. Genetic variants in IL12 influence both hepatitis B virus clearance and HBV-related hepatocellular carcinoma development in a Chinese male population. Tan A, etal., Tumour Biol. 2016 May;37(5):6343-8. doi: 10.1007/s13277-015-4520-x. Epub 2015 Dec 2.
16. Up-regulation of IL-12 expression in patients with chronic hepatitis B is mediated by the PI3K/Akt pathway. Wang HW, etal., Mol Cell Biochem. 2015 Sep;407(1-2):135-42. doi: 10.1007/s11010-015-2463-6. Epub 2015 Jun 11.
Additional References at PubMed
PMID:934235   PMID:1350290   PMID:1357073   PMID:1358798   PMID:1673147   PMID:1674604   PMID:2204066   PMID:7516408   PMID:7527811   PMID:7584494   PMID:7605994   PMID:7695626  
PMID:7867080   PMID:7903063   PMID:8557999   PMID:8627017   PMID:8648753   PMID:8700208   PMID:8760829   PMID:8992506   PMID:9108403   PMID:9158092   PMID:9225992   PMID:9334723  
PMID:9342359   PMID:9516412   PMID:9603732   PMID:9616161   PMID:9671213   PMID:9712080   PMID:9789052   PMID:10089131   PMID:10320373   PMID:10352291   PMID:10899108   PMID:11023671  
PMID:11087201   PMID:11114383   PMID:11751963   PMID:11940489   PMID:12117904   PMID:12213961   PMID:12242445   PMID:12270766   PMID:12358856   PMID:12370346   PMID:12372421   PMID:12444143  
PMID:12472178   PMID:12477932   PMID:12542496   PMID:12558814   PMID:12576336   PMID:12633940   PMID:12672403   PMID:12719551   PMID:12911539   PMID:12944981   PMID:14566095   PMID:14597672  
PMID:14629328   PMID:14660053   PMID:14675394   PMID:14718574   PMID:14764743   PMID:14962816   PMID:15051764   PMID:15087447   PMID:15142381   PMID:15170937   PMID:15331709   PMID:15356557  
PMID:15361128   PMID:15448160   PMID:15489234   PMID:15643599   PMID:15741223   PMID:15780175   PMID:15810889   PMID:15817944   PMID:15863393   PMID:15937086   PMID:15956545   PMID:15963597  
PMID:16230423   PMID:16456693   PMID:16482511   PMID:16544245   PMID:16548883   PMID:16573560   PMID:16702372   PMID:16754651   PMID:16803996   PMID:16862120   PMID:16885196   PMID:16938461  
PMID:16942485   PMID:16961803   PMID:17002904   PMID:17007011   PMID:17062130   PMID:17077296   PMID:17152005   PMID:17225924   PMID:17236132   PMID:17257312   PMID:17304101   PMID:17361014  
PMID:17431094   PMID:17444864   PMID:17461482   PMID:17509455   PMID:17553352   PMID:17564777   PMID:17586317   PMID:17627763   PMID:17640324   PMID:17653830   PMID:17671745   PMID:17703412  
PMID:17846855   PMID:17881511   PMID:17922692   PMID:17947455   PMID:18050195   PMID:18092318   PMID:18159163   PMID:18190588   PMID:18260379   PMID:18300344   PMID:18311140   PMID:18385764  
PMID:18413324   PMID:18417583   PMID:18419254   PMID:18554158   PMID:18566447   PMID:18588867   PMID:18606709   PMID:18628242   PMID:18632425   PMID:18633131   PMID:18671862   PMID:18672993  
PMID:18676680   PMID:18717726   PMID:18773331   PMID:18805825   PMID:18972297   PMID:18976327   PMID:19012493   PMID:19013323   PMID:19031096   PMID:19073967   PMID:19074885   PMID:19088061  
PMID:19117745   PMID:19118071   PMID:19126646   PMID:19144161   PMID:19148899   PMID:19170196   PMID:19200845   PMID:19230467   PMID:19234184   PMID:19253530   PMID:19258923   PMID:19275586  
PMID:19297619   PMID:19299334   PMID:19332120   PMID:19339796   PMID:19376105   PMID:19408823   PMID:19454678   PMID:19470040   PMID:19505916   PMID:19508433   PMID:19516896   PMID:19525953  
PMID:19543959   PMID:19566870   PMID:19573080   PMID:19594368   PMID:19625176   PMID:19646340   PMID:19692168   PMID:19693089   PMID:19710469   PMID:19773279   PMID:19789190   PMID:19797506  
PMID:19798410   PMID:19879194   PMID:19885559   PMID:19913121   PMID:19950173   PMID:19956842   PMID:20012528   PMID:20027291   PMID:20054003   PMID:20060272   PMID:20061784   PMID:20082482  
PMID:20190752   PMID:20213229   PMID:20231901   PMID:20237496   PMID:20331378   PMID:20350312   PMID:20372811   PMID:20418110   PMID:20446002   PMID:20452482   PMID:20453000   PMID:20485444  
PMID:20503287   PMID:20544370   PMID:20551083   PMID:20555355   PMID:20568250   PMID:20581146   PMID:20603050   PMID:20628086   PMID:20634089   PMID:20639880   PMID:20647273   PMID:20673868  
PMID:20714168   PMID:20716621   PMID:20818961   PMID:20881642   PMID:20960273   PMID:21044109   PMID:21086908   PMID:21145044   PMID:21177981   PMID:21285006   PMID:21387004   PMID:21397857  
PMID:21399635   PMID:21402701   PMID:21513752   PMID:21518507   PMID:21518761   PMID:21606320   PMID:21689404   PMID:21833088   PMID:21878338   PMID:22005588   PMID:22011063   PMID:22038227  
PMID:22040814   PMID:22133036   PMID:22438968   PMID:22581790   PMID:22614250   PMID:22655069   PMID:22656398   PMID:22691562   PMID:22734699   PMID:22819329   PMID:22940148   PMID:23053983  
PMID:23065210   PMID:23154182   PMID:23285065   PMID:23291587   PMID:23297419   PMID:23377640   PMID:23388728   PMID:23619469   PMID:23657466   PMID:23714111   PMID:23717436   PMID:23734222  
PMID:23752604   PMID:23755218   PMID:23778029   PMID:23986795   PMID:24012048   PMID:24040445   PMID:24073214   PMID:24121041   PMID:24130718   PMID:24145357   PMID:24158609   PMID:24273881  
PMID:24289573   PMID:24376289   PMID:24782489   PMID:24970690   PMID:24994465   PMID:25008917   PMID:25037175   PMID:25073578   PMID:25139335   PMID:25179705   PMID:25200154   PMID:25202013  
PMID:25214710   PMID:25234720   PMID:25258182   PMID:25316442   PMID:25323532   PMID:25326182   PMID:25446896   PMID:25469793   PMID:25480413   PMID:25550844   PMID:25563480   PMID:25575066  
PMID:25577895   PMID:25611266   PMID:25640666   PMID:25697137   PMID:25731770   PMID:25752977   PMID:25754930   PMID:25799145   PMID:25820702   PMID:25854372   PMID:25869609   PMID:25935866  
PMID:25943894   PMID:25985710   PMID:26017027   PMID:26042836   PMID:26044961   PMID:26085094   PMID:26104769   PMID:26204444   PMID:26225474   PMID:26370008   PMID:26375522   PMID:26431888  
PMID:26514528   PMID:26801817   PMID:26844658   PMID:26956584   PMID:26960148   PMID:26966064   PMID:26987707   PMID:27002606   PMID:27043536   PMID:27058587   PMID:27103395   PMID:27111145  
PMID:27119521   PMID:27191929   PMID:27240992   PMID:27329841   PMID:27502600   PMID:27548383   PMID:27555306   PMID:27571873   PMID:27621419   PMID:27699510   PMID:27751764   PMID:27765464  
PMID:27855302   PMID:27871914   PMID:27892456   PMID:28211781   PMID:28319085   PMID:28325840   PMID:28408727   PMID:28514442   PMID:28525983   PMID:28600552   PMID:28644966   PMID:28694807  
PMID:28752680   PMID:28807247   PMID:28817541   PMID:28916184   PMID:28980933   PMID:28989066   PMID:29029192   PMID:29123149   PMID:29257310   PMID:29371247   PMID:29445068   PMID:29453279  
PMID:29528584   PMID:29576585   PMID:29633015   PMID:29675399   PMID:29701163   PMID:29729445   PMID:29731755   PMID:29739077   PMID:29749583   PMID:29938865   PMID:30054763   PMID:30106099  
PMID:30119881   PMID:30218063   PMID:30223387   PMID:30257721   PMID:30316971   PMID:30396953   PMID:30584776   PMID:30589451   PMID:30616389   PMID:30681737   PMID:30851705   PMID:30914441  
PMID:30917537   PMID:30938833   PMID:30989711   PMID:31342670   PMID:31362000   PMID:31465608   PMID:31519970   PMID:31805568   PMID:31818255   PMID:31896761   PMID:32295589   PMID:32620160  
PMID:32620609   PMID:32756130   PMID:32793509   PMID:32973297   PMID:32998371   PMID:33128920   PMID:33141778   PMID:33287915   PMID:33302652   PMID:33307515   PMID:33407151   PMID:33606986  
PMID:33766895   PMID:33878182   PMID:33932898   PMID:33961781   PMID:34069352   PMID:34475058   PMID:35563316   PMID:35635032   PMID:35759811   PMID:35959714   PMID:36233301   PMID:36476890  
PMID:37195820   PMID:37326977   PMID:37759746   PMID:37878703   PMID:38203575   PMID:38243080   PMID:38278031   PMID:38690286  


Genomics

Comparative Map Data
IL12A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383159,988,835 - 159,996,019 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3159,988,835 - 159,996,019 (+)EnsemblGRCh38hg38GRCh38
GRCh373159,706,622 - 159,713,806 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363161,189,323 - 161,196,500 (+)NCBINCBI36Build 36hg18NCBI36
Build 343161,189,330 - 161,196,507NCBI
Celera3158,128,398 - 158,135,579 (+)NCBICelera
Cytogenetic Map3q25.33NCBI
HuRef3157,102,994 - 157,110,193 (+)NCBIHuRef
CHM1_13159,669,641 - 159,676,836 (+)NCBICHM1_1
T2T-CHM13v2.03162,763,550 - 162,770,734 (+)NCBIT2T-CHM13v2.0
Il12a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39368,597,977 - 68,605,881 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl368,597,977 - 68,605,880 (+)EnsemblGRCm39 Ensembl
GRCm38368,690,644 - 68,698,550 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl368,690,644 - 68,698,547 (+)EnsemblGRCm38mm10GRCm38
MGSCv37368,494,566 - 68,502,469 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36368,778,573 - 68,786,454 (+)NCBIMGSCv36mm8
Celera368,820,603 - 68,828,506 (+)NCBICelera
Cytogenetic Map3E1NCBI
cM Map331.92NCBI
Il12a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82155,275,734 - 155,282,997 (+)NCBIGRCr8
mRatBN7.22152,965,769 - 152,973,035 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2152,965,769 - 152,972,734 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2160,091,860 - 160,098,803 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02158,142,380 - 158,149,321 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02152,775,143 - 152,782,090 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02165,076,945 - 165,083,996 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2165,076,607 - 165,084,318 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02184,430,744 - 184,437,696 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42158,710,261 - 158,717,689 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12158,660,223 - 158,667,652 (+)NCBI
Celera2147,317,946 - 147,324,898 (+)NCBICelera
Cytogenetic Map2q32NCBI
Il12a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495544810,611,131 - 10,617,911 (+)NCBIChiLan1.0ChiLan1.0
IL12A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22157,926,204 - 157,935,673 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13157,930,880 - 157,942,229 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03157,011,675 - 157,019,897 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13165,061,505 - 165,068,666 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3165,061,505 - 165,068,666 (+)Ensemblpanpan1.1panPan2
IL12A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13426,125,529 - 26,133,546 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3426,124,770 - 26,133,550 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3430,167,784 - 30,175,056 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03426,181,526 - 26,189,271 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3426,180,963 - 26,189,280 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13426,112,551 - 26,119,731 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03426,072,972 - 26,080,252 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03426,312,100 - 26,319,473 (+)NCBIUU_Cfam_GSD_1.0
Il12a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560283,553,229 - 83,559,894 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365196,175,261 - 6,180,396 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365196,166,060 - 6,180,652 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IL12A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1399,733,394 - 99,741,078 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11399,733,394 - 99,741,078 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213108,066,792 - 108,074,477 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IL12A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11530,887,048 - 30,896,577 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1530,887,897 - 30,894,550 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660413,416,998 - 3,424,283 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Il12a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473037,787,909 - 37,794,940 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473037,787,772 - 37,794,871 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IL12A
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q25.33-26.1(chr3:159748682-161533654)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051538]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051538]|See cases [RCV000051538] Chr3:159748682..161533654 [GRCh38]
Chr3:159466471..161251442 [GRCh37]
Chr3:160949165..162734136 [NCBI36]
Chr3:3q25.33-26.1
uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 copy number gain See cases [RCV000051735] Chr3:158141556..172788324 [GRCh38]
Chr3:157859345..172506114 [GRCh37]
Chr3:159342039..173988808 [NCBI36]
Chr3:3q25.32-26.31
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_001397992.1(IL12A):c.204G>A (p.Glu68=) single nucleotide variant not provided [RCV000940907] Chr3:159993053 [GRCh38]
Chr3:159710840 [GRCh37]
Chr3:3q25.33
likely benign
NM_001397992.1(IL12A):c.465A>G (p.Leu155=) single nucleotide variant not provided [RCV000903732] Chr3:159993805 [GRCh38]
Chr3:159711592 [GRCh37]
Chr3:3q25.33
benign
Single allele duplication Growth abnormality [RCV000787463] Chr3:158567751..160802139 [GRCh37]
Chr3:3q25.32-26.1
uncertain significance
NM_001397992.1(IL12A):c.558G>A (p.Pro186=) single nucleotide variant not provided [RCV000894506] Chr3:159995457 [GRCh38]
Chr3:159713244 [GRCh37]
Chr3:3q25.33
benign
NM_001397992.1(IL12A):c.557C>T (p.Pro186Leu) single nucleotide variant not provided [RCV000886126] Chr3:159995456 [GRCh38]
Chr3:159713243 [GRCh37]
Chr3:3q25.33
likely benign
NM_001397992.1(IL12A):c.529G>A (p.Val177Met) single nucleotide variant not provided [RCV000880217] Chr3:159995428 [GRCh38]
Chr3:159713215 [GRCh37]
Chr3:3q25.33
benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3 copy number gain See cases [RCV001194528] Chr3:156812581..160154747 [GRCh37]
Chr3:3q25.31-25.33
uncertain significance
GRCh37/hg19 3q25.33(chr3:159661204-159762756)x1 copy number loss not provided [RCV001259720] Chr3:159661204..159762756 [GRCh37]
Chr3:3q25.33
uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1
pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) copy number gain not specified [RCV002053382] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553) copy number gain not specified [RCV002053381] Chr3:156768935..160158553 [GRCh37]
Chr3:3q25.31-25.33
uncertain significance
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33
pathogenic
NM_001397992.1(IL12A):c.130C>G (p.Leu44Val) single nucleotide variant not specified [RCV004152532] Chr3:159990280 [GRCh38]
Chr3:159708067 [GRCh37]
Chr3:3q25.33
uncertain significance
NM_001397992.1(IL12A):c.250G>A (p.Ala84Thr) single nucleotide variant not specified [RCV004173708] Chr3:159993099 [GRCh38]
Chr3:159710886 [GRCh37]
Chr3:3q25.33
uncertain significance
NM_001397992.1(IL12A):c.86C>A (p.Thr29Asn) single nucleotide variant not specified [RCV004096255] Chr3:159990236 [GRCh38]
Chr3:159708023 [GRCh37]
Chr3:3q25.33
uncertain significance
NM_001397992.1(IL12A):c.-86C>T single nucleotide variant not specified [RCV004278075] Chr3:159989073 [GRCh38]
Chr3:159706860 [GRCh37]
Chr3:3q25.33
uncertain significance
NM_001397992.1(IL12A):c.409G>A (p.Glu137Lys) single nucleotide variant not specified [RCV004345291] Chr3:159993749 [GRCh38]
Chr3:159711536 [GRCh37]
Chr3:3q25.33
uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29
pathogenic
NM_001397992.1(IL12A):c.337T>A (p.Ser113Thr) single nucleotide variant not specified [RCV004404930] Chr3:159993586 [GRCh38]
Chr3:159711373 [GRCh37]
Chr3:3q25.33
uncertain significance
NM_001397992.1(IL12A):c.-57G>A single nucleotide variant not specified [RCV004404931] Chr3:159989102 [GRCh38]
Chr3:159706889 [GRCh37]
Chr3:3q25.33
likely benign
NM_001397992.1(IL12A):c.475A>G (p.Met159Val) single nucleotide variant not specified [RCV004404932] Chr3:159993815 [GRCh38]
Chr3:159711602 [GRCh37]
Chr3:3q25.33
uncertain significance
NM_001397992.1(IL12A):c.77C>T (p.Pro26Leu) single nucleotide variant not specified [RCV004627923] Chr3:159990227 [GRCh38]
Chr3:159708014 [GRCh37]
Chr3:3q25.33
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:789
Count of miRNA genes:425
Interacting mature miRNAs:462
Transcripts:ENST00000305579, ENST00000466512, ENST00000468862, ENST00000480088, ENST00000480787, ENST00000496308
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407382428GWAS1031404_Hmultiple sclerosis QTL GWAS1031404 (human)5e-08multiple sclerosis3159994586159994587Human
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
406982811GWAS631787_Hmultiple sclerosis QTL GWAS631787 (human)0.000007multiple sclerosis3159991864159991865Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human
407141032GWAS790008_Hprimary biliary cirrhosis QTL GWAS790008 (human)2e-11primary biliary cirrhosis3159992311159992312Human
407060927GWAS709903_Hsystemic lupus erythematosus QTL GWAS709903 (human)5e-08systemic lupus erythematosus3159992603159992604Human

Markers in Region
GDB:252062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373159,713,284 - 159,713,566UniSTSGRCh37
Build 363161,195,978 - 161,196,260RGDNCBI36
Celera3158,135,057 - 158,135,339RGD
Cytogenetic Map3q25.33UniSTS
HuRef3157,109,671 - 157,109,953UniSTS
PMC105864P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373159,713,284 - 159,713,709UniSTSGRCh37
Build 363161,195,978 - 161,196,403RGDNCBI36
Celera3158,135,057 - 158,135,482RGD
Cytogenetic Map3q25.33UniSTS
HuRef3157,109,671 - 157,110,096UniSTS
SHGC-12751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373159,713,358 - 159,713,705UniSTSGRCh37
Build 363161,196,052 - 161,196,399RGDNCBI36
Celera3158,135,131 - 158,135,478RGD
Cytogenetic Map3q25.33UniSTS
HuRef3157,109,745 - 157,110,092UniSTS
Stanford-G3 RH Map37159.0UniSTS
NCBI RH Map31414.9UniSTS
GeneMap99-G3 RH Map37629.0UniSTS
RH17729  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373159,713,341 - 159,713,472UniSTSGRCh37
Build 363161,196,035 - 161,196,166RGDNCBI36
Celera3158,135,114 - 158,135,245RGD
Cytogenetic Map3q25.33UniSTS
HuRef3157,109,728 - 157,109,859UniSTS
GeneMap99-GB4 RH Map3588.48UniSTS
IL12A_3062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373159,713,301 - 159,713,927UniSTSGRCh37
Build 363161,195,995 - 161,196,621RGDNCBI36
Celera3158,135,074 - 158,135,700RGD
HuRef3157,109,688 - 157,110,314UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1192 2399 2572 2118 4797 1620 2268 3 561 1754 403 2132 6757 6095 50 3710 825 1727 1599 173

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001397992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF050083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF101062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF180562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF404773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW472810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG702253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS498405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH821934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA104599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M65271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M65291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000305579   ⟹   ENSP00000303231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3159,988,835 - 159,996,019 (+)Ensembl
Ensembl Acc Id: ENST00000466512   ⟹   ENSP00000419046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3159,988,954 - 159,996,019 (+)Ensembl
Ensembl Acc Id: ENST00000468862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3159,988,861 - 159,996,019 (+)Ensembl
Ensembl Acc Id: ENST00000480088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3159,988,836 - 159,990,332 (+)Ensembl
Ensembl Acc Id: ENST00000480787   ⟹   ENSP00000420184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3159,988,954 - 159,995,671 (+)Ensembl
Ensembl Acc Id: ENST00000496308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3159,988,870 - 159,995,671 (+)Ensembl
Ensembl Acc Id: ENST00000699704   ⟹   ENSP00000514529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3159,988,835 - 159,996,019 (+)Ensembl
RefSeq Acc Id: NM_000882   ⟹   NP_000873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383159,988,835 - 159,996,019 (+)NCBI
GRCh373159,706,623 - 159,713,806 (+)ENTREZGENE
Build 363161,189,323 - 161,196,500 (+)NCBI Archive
HuRef3157,102,994 - 157,110,193 (+)ENTREZGENE
CHM1_13159,669,641 - 159,676,836 (+)NCBI
T2T-CHM13v2.03162,763,550 - 162,770,734 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354582   ⟹   NP_001341511
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383159,988,835 - 159,996,019 (+)NCBI
T2T-CHM13v2.03162,763,550 - 162,770,734 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354583   ⟹   NP_001341512
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383159,988,835 - 159,996,019 (+)NCBI
T2T-CHM13v2.03162,763,550 - 162,770,734 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001397992   ⟹   NP_001384921
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383159,988,835 - 159,996,019 (+)NCBI
T2T-CHM13v2.03162,763,550 - 162,770,734 (+)NCBI
RefSeq Acc Id: NP_000873   ⟸   NM_000882
- Peptide Label: isoform 1 precursor
- UniProtKB: O60595 (UniProtKB/TrEMBL),   E9PGR3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341511   ⟸   NM_001354582
- Peptide Label: isoform 2
- UniProtKB: E9PGR3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341512   ⟸   NM_001354583
- Peptide Label: isoform 3
- UniProtKB: E7ENE1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000419046   ⟸   ENST00000466512
Ensembl Acc Id: ENSP00000420184   ⟸   ENST00000480787
Ensembl Acc Id: ENSP00000303231   ⟸   ENST00000305579
RefSeq Acc Id: NP_001384921   ⟸   NM_001397992
- Peptide Label: isoform 4 precursor
- UniProtKB: P29459 (UniProtKB/Swiss-Prot),   Q96QZ1 (UniProtKB/Swiss-Prot)
Ensembl Acc Id: ENSP00000514529   ⟸   ENST00000699704

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P29459-F1-model_v2 AlphaFold P29459 1-219 view protein structure

Promoters
RGD ID:6866154
Promoter ID:EPDNEW_H6242
Type:initiation region
Name:IL12A_1
Description:interleukin 12A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383159,988,840 - 159,988,900EPDNEW
RGD ID:6801151
Promoter ID:HG_KWN:46581
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:NM_000882
Position:
Human AssemblyChrPosition (strand)Source
Build 363161,189,039 - 161,189,539 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5969 AgrOrtholog
COSMIC IL12A COSMIC
Ensembl Genes ENSG00000168811 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000305579 ENTREZGENE
  ENST00000305579.7 UniProtKB/TrEMBL
  ENST00000466512 ENTREZGENE
  ENST00000466512.1 UniProtKB/TrEMBL
  ENST00000480787 ENTREZGENE
  ENST00000480787.5 UniProtKB/TrEMBL
  ENST00000699704 ENTREZGENE
  ENST00000699704.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168811 GTEx
HGNC ID HGNC:5969 ENTREZGENE
Human Proteome Map IL12A Human Proteome Map
InterPro 4_helix_cytokine-like_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL-12_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL-12_family_cytokines UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3592 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3592 ENTREZGENE
OMIM 161560 OMIM
PANTHER INTERLEUKIN-12 SUBUNIT ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTERLEUKIN-12 SUBUNIT BETA-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IL12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29784 PharmGKB
Superfamily-SCOP SSF47266 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E7ENE1 ENTREZGENE, UniProtKB/TrEMBL
  E9PGR3 ENTREZGENE, UniProtKB/TrEMBL
  IL12A_HUMAN UniProtKB/Swiss-Prot
  O60595 ENTREZGENE, UniProtKB/TrEMBL
  P29459 ENTREZGENE
  Q96QZ1 ENTREZGENE
UniProt Secondary Q96QZ1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-04-15 IL12A  interleukin 12A  IL12A  interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)  Symbol and/or name change 5135510 APPROVED