Gene: ABCA12

26154
ARCI4A|ARCI4B|ICR2B|LI2
ATP binding cassette subfamily A member 12
protein-coding
2q35
Ensembl:ENSG00000144452 MIM:607800 Vega:OTTHUMG00000154801 UniprotKB:Q86UK0
NG_007074.1
SNP Mapped
5   ANCO-SNPs
AD
0   
NA (AD)  NA (ND)   (Frontal_Cortex)
8.996e-1 (AD)  8.402e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs7594021chr2:214976105 (GRCh38.p7)A>Galcohol dependenceSNV(Single Nucleotide Variation)
rs3795857chr2:214969952 (GRCh38.p7)A>G / A>Talcohol dependenceSNV(Single Nucleotide Variation)
rs1464678chr2:214969742 (GRCh38.p7)A>Galcohol dependenceSNV(Single Nucleotide Variation)
rs6756540chr2:214968898 (GRCh38.p7)G>Talcohol dependenceSNV(Single Nucleotide Variation)
rs4673925chr2:214968691 (GRCh38.p7)A>Galcohol dependenceSNV(Single Nucleotide Variation)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
ZIM20.572
C1orf1460.54
WRN0.533
TTN0.532
ZNF354B0.528
KLHL410.527
NR2C10.525
SCYL30.52
IDE0.515
REV3L0.515

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
C4orf48-0.253
ANXA13-0.253
SLX1B-0.249
AKAP14-0.245
NRN1L-0.236
TMEM31-0.235
SLC27A5-0.234
FAM229A-0.234
JOSD2-0.23
BCL7C-0.228

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C0245661,1,1-trichloroethane"1,1,1-trichloroethane results in increased expression of ABCA12 mRNA"25270620
C5321622-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine"[PIK3CA gene mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine] which results in increased expression of ABCA12 mRNA"20453058
D000082AcetaminophenAcetaminophen results in decreased expression of ABCA12 mRNA29067470
D016604Aflatoxin B1Aflatoxin B1 affects the expression of ABCA12 protein20106945
D016604Aflatoxin B1Aflatoxin B1 results in decreased methylation of ABCA12 gene27153756
D016604Aflatoxin B1Aflatoxin B1 results in increased expression of ABCA12 mRNA22100608
D000393Air PollutantsAir Pollutants analog results in decreased expression of ABCA12 mRNA21757418
C015001arsenitearsenite results in increased expression of ABCA12 mRNA23974009
D001280AtrazineAtrazine results in increased expression of ABCA12 mRNA22378314
D001548Benzalkonium CompoundsBenzalkonium Compounds results in increased expression of ABCA12 mRNA25377654
C022921benzo(k)fluoranthenebenzo(k)fluoranthene results in decreased expression of ABCA12 mRNA26377693
D001564Benzo(a)pyreneBenzo(a)pyrene results in increased expression of ABCA12 mRNA20106945|2163298
D004958Estradiol[Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of ABCA12 mRNA19619570
D004958EstradiolEstradiol results in decreased expression of ABCA12 mRNA19619570|2118537
C006780bisphenol Abisphenol A affects the expression of ABCA12 mRNA21786754
C006780bisphenol Abisphenol A results in decreased expression of ABCA12 mRNA22576693
C006780bisphenol Abisphenol A results in increased methylation of ABCA12 gene22576693
C006780bisphenol Abisphenol A results in decreased expression of ABCA12 mRNA25181051
C018475butyraldehydebutyraldehyde results in decreased expression of ABCA12 mRNA26079696
D016572CyclosporineCyclosporine results in increased expression of ABCA12 mRNA20106945
D003703DemecolcineDemecolcine results in increased expression of ABCA12 mRNA23649840
D003907DexamethasoneDexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of ABCA12 mRNA]27941970
D002945Cisplatin[Cisplatin co-treated with jinfukang] results in increased expression of ABCA12 mRNA27392435
D002945CisplatinCisplatin results in increased expression of ABCA12 mRNA27392435
D002117CalcitriolCalcitriol results in decreased expression of ABCA12 mRNA21592394
D002117Calcitriol[Testosterone co-treated with Calcitriol] results in decreased expression of ABCA12 mRNA21592394
C067311docetaxel[docetaxel results in decreased susceptibility to docetaxel] which affects the expression of ABCA12 mRNA19944135
D005020Ethyl MethanesulfonateEthyl Methanesulfonate results in increased expression of ABCA12 mRNA23649840
D005557FormaldehydeFormaldehyde results in increased expression of ABCA12 mRNA23649840
C544151jinfukang[Cisplatin co-treated with jinfukang] results in increased expression of ABCA12 mRNA27392435
C544151jinfukangjinfukang results in decreased expression of ABCA12 mRNA27392435
D008154LucanthoneLucanthone results in increased expression of ABCA12 mRNA21148553
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in increased expression of ABCA12 mRNA23649840
C016599mono-(2-ethylhexyl)phthalatemono-(2-ethylhexyl)phthalate results in increased expression of ABCA12 mRNA22401849
D011192Potassium DichromatePotassium Dichromate results in decreased expression of ABCA12 mRNA23608068
D011794QuercetinQuercetin results in increased expression of ABCA12 mRNA21632981
D012967Sodium Dodecyl SulfateSodium Dodecyl Sulfate results in increased expression of ABCA12 mRNA25377654
D013739Testosterone[Testosterone co-treated with Calcitriol] results in decreased expression of ABCA12 mRNA21592394
D013739TestosteroneTestosterone results in decreased expression of ABCA12 mRNA21592394
D013749Tetrachlorodibenzodioxin[Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of ABCA12 mRNA19619570
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in decreased expression of ABCA12 mRNA19619570|2010694
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in increased expression of ABCA12 mRNA23152189
D014212TretinoinTretinoin results in decreased expression of ABCA12 mRNA23724009
D014241TrichloroethyleneABCA12 affects the susceptibility to Trichloroethylene23994554
D014635Valproic AcidValproic Acid results in increased methylation of ABCA12 gene29154799
D014750Vincristine[Vincristine results in decreased susceptibility to Vincristine] which results in increased expression of ABCA12 mRNA19944135
D014750VincristineVincristine results in increased expression of ABCA12 mRNA23649840
C088658zoledronic acidzoledronic acid results in increased expression of ABCA12 mRNA24714768

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005102signaling receptor binding-IPI23931754  
GO:0005319lipid transporter activity-IDA16007253  
GO:0005319lipid transporter activity-TAS-  
GO:0005515protein binding-IPI23931754  
GO:0005524ATP binding-NAS12697999  
GO:0034040lipid-transporting ATPase activity-IC16007253  
GO:0034191apolipoprotein A-I receptor binding-IPI23931754  
GO:0042626ATPase activity, coupled to transmembrane movement of substances-IBA21873635  
GO ID GO Term Qualifier Evidence PubMed
GO:0006869lipid transport-IBA21873635  
GO:0006869lipid transport-IDA16007253  
GO:0006869lipid transport-NAS12915478  
GO:0010875positive regulation of cholesterol efflux-IDA23931754  
GO:0019725cellular homeostasis-NAS12697999  
GO:0031424keratinization-IEA-  
GO:0032940secretion by cell-IMP16007253  
GO:0033700phospholipid efflux-IMP23931754  
GO:0035627ceramide transport-IEA-  
GO:0043129surfactant homeostasis-IEA-  
GO:0045055regulated exocytosis-IMP16007253  
GO:0048286lung alveolus development-IEA-  
GO:0055085transmembrane transport-TAS-  
GO:0055088lipid homeostasis-IEA-  
GO:0061436establishment of skin barrier-IEA-  
GO:0072659protein localization to plasma membrane-IDA23931754  
GO:0072659protein localization to plasma membrane-IMP23931754  
GO:2000010positive regulation of protein localization to cell surface-IEA-  
GO ID GO Term Qualifier Evidence PubMed
GO:0005737cytoplasm-IDA23931754  
GO:0005829cytosol-IEA-  
GO:0005886plasma membrane-IDA23931754  
GO:0005886plasma membrane-TAS-  
GO:0016021integral component of membrane-NAS12697999  
GO:0043231intracellular membrane-bounded organelle-IBA21873635  
GO:0097209epidermal lamellar body-IDA16007253  
KEGG ID KEGG Term
hsa02010ABC transporters
Reactome ID Reactome Term Evidence
R-HSA-1369062ABC transporters in lipid homeostasisTAS
R-HSA-1643685DiseaseTAS
R-HSA-382551Transport of small moleculesTAS
R-HSA-382556ABC-family proteins mediated transportTAS
R-HSA-5619084ABC transporter disordersTAS
R-HSA-5619115Disorders of transmembrane transportersTAS
R-HSA-5682294Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4BTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal