Gene: ABCA4

24
ABC10|ABCR|ARMD2|CORD3|FFM|RMP|RP19|STGD|STGD1
ATP binding cassette subfamily A member 4
protein-coding
1p22.1
Ensembl:ENSG00000198691 MIM:601691 Vega:OTTHUMG00000010622 UniprotKB:P78363
NG_009073.1
PubMed
0   ANCO-SNPs
ND
3   
NA (AD)  NA (ND)   (Frontal_Cortex)
4.938e-2 (AD)  4.116e-1 (ND)

DNA Methylation

Probe Locus(GRCh37) Gene Region p-val Trait PubMed ID
cg18800235chr1:94486895ABCA43.570e-9Smoking28686328

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
ALPK30.555
COL5A10.553
BHLHE400.526
KDM6B0.52
SLC38A110.516
CTNND10.513
STAT60.508
ODF20.501
SIK10.5
GCKR0.499

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
ANLN-0.335
TACR3-0.327
ANKRD18A-0.326
MOBP-0.315
C2orf88-0.313
SMIM6-0.312
ST18-0.308
CTNNA3-0.308
TSPAN8-0.307
LRRC63-0.303

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C547126AZM551248AZM551248 results in decreased expression of ABCA4 mRNA22323515
C006780bisphenol Abisphenol A affects the expression of ABCA4 mRNA25181051
C006780bisphenol Abisphenol A results in increased methylation of ABCA4 gene28505145
C018021cobaltous chloridecobaltous chloride results in decreased expression of ABCA4 mRNA24386269
C018021cobaltous chloridecobaltous chloride results in increased expression of ABCA4 mRNA24386269
D003042CocaineCocaine results in decreased expression of ABCA4 mRNA27899881
D019327Copper SulfateCopper Sulfate results in increased expression of ABCA4 mRNA19549813
D019422Dietary SucroseDietary Sucrose results in decreased expression of ABCA4 mRNA26033743
C067311docetaxel[docetaxel results in decreased susceptibility to docetaxel] which results in increased expression of ABCA4 mRNA19944135
C118739entinostatentinostat results in increased expression of ABCA4 mRNA27188386
C039281furanfuran results in increased expression of ABCA4 mRNA25539665
C016599mono-(2-ethylhexyl)phthalatemono-(2-ethylhexyl)phthalate results in increased expression of ABCA4 mRNA22401849
D037742Nanotubes, Carbon"Nanotubes, Carbon analog results in increased expression of ABCA4 mRNA"25554681
D037742Nanotubes, Carbon"Nanotubes, Carbon results in increased expression of ABCA4 mRNA"25554681
C572573N-nitroso-tris-chloroethylurea[N-nitroso-tris-chloroethylurea co-treated with pioglitazone] results in decreased expression of ABCA4 mRNA27935865
C060836pioglitazone[N-nitroso-tris-chloroethylurea co-treated with pioglitazone] results in decreased expression of ABCA4 mRNA27935865
C006253pirinixic acidpirinixic acid results in increased expression of ABCA4 mRNA20059764
C006253pirinixic acidPPARA protein promotes the reaction [pirinixic acid results in increased expression of ABCA4 mRNA]20059764
C005556propionaldehydepropionaldehyde results in increased expression of ABCA4 mRNA26079696
D012172RetinaldehydeABCA4 protein affects the transport of Retinaldehyde16968212
D053260SootSoot results in increased expression of ABCA4 mRNA26551751
D013629TamoxifenTamoxifen results in decreased expression of ABCA4 mRNA25123088
D013853ThioacetamideThioacetamide results in decreased expression of ABCA4 mRNA23411599
D014750Vincristine[Vincristine results in decreased susceptibility to Vincristine] which results in increased expression of ABCA4 mRNA19944135
C088658zoledronic acidzoledronic acid results in increased expression of ABCA4 mRNA20977926|2471476

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005215transporter activity-TAS9054934  
GO:0005395eye pigment precursor transporter activity-TAS-  
GO:0005524ATP binding-IEA-  
GO:0016887ATPase activity-IDA24097981  
GO:0042626ATPase activity, coupled to transmembrane movement of substances-IBA21873635  
GO:0042626ATPase activity, coupled to transmembrane movement of substances-TAS9054934  
GO:0090555phosphatidylethanolamine-translocating ATPase activity-IDA24097981  
GO ID GO Term Qualifier Evidence PubMed
GO:0001523retinoid metabolic process-TAS-  
GO:0006649phospholipid transfer to membrane-IEA-  
GO:0006869lipid transport-IBA21873635  
GO:0007601visual perception-IEA-  
GO:0007603phototransduction, visible light-TAS9202155  
GO:0045332phospholipid translocation-IDA24097981  
GO:0045494photoreceptor cell maintenance-IEA-  
GO:0055085transmembrane transport-TAS-  
GO ID GO Term Qualifier Evidence PubMed
GO:0005887integral component of plasma membrane-IEA-  
GO:0016020membrane-TAS9054934  
GO:0043231intracellular membrane-bounded organelle-IBA21873635  
GO:0097381photoreceptor disc membrane-TAS-  
KEGG ID KEGG Term
hsa02010ABC transporters
Reactome ID Reactome Term Evidence
R-HSA-162582Signal TransductionIEA
R-HSA-162582Signal TransductionTAS
R-HSA-1643685DiseaseTAS
R-HSA-2187338Visual phototransductionIEA
R-HSA-2187338Visual phototransductionTAS
R-HSA-2453864Retinoid cycle disease eventsTAS
R-HSA-2453902The canonical retinoid cycle in rods (twilight vision)IEA
R-HSA-2453902The canonical retinoid cycle in rods (twilight vision)TAS
R-HSA-2474795Diseases associated with visual transductionTAS
R-HSA-372790Signaling by GPCRIEA
R-HSA-372790Signaling by GPCRTAS
R-HSA-382551Transport of small moleculesTAS
R-HSA-382556ABC-family proteins mediated transportTAS
R-HSA-388396GPCR downstream signallingIEA
R-HSA-388396GPCR downstream signallingTAS
R-HSA-418594G alpha (i) signalling eventsIEA
R-HSA-418594G alpha (i) signalling eventsTAS
R-HSA-5663202Diseases of signal transductionTAS

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

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

PMID Title (Year) Author Journal
23512105Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study. (2013 Jul)Beaty THHum Genet
26261643Correlation between the interactions of ABCA4 polymorphisms and smoking with the susceptibility to age-related macular degeneration. (2015)Wu YInt J Clin Exp Pathol
10880298Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. (2000 Aug)Allikmets RAm J Hum Genet