Gene table of ABCA4 : ATP binding cassette subfamily A member 4

Gene-disease associations table

Disease IDDisease nameSource of annotation with ABCA4OMIM linkNumber of associated genesgenes
604116CONE-ROD DYSTROPHY 3ClinVar, OMIM, HUMSAVAR link to OMIM 1ABCA4
PS603075MACULAR DEGENERATION, AGE-RELATEDClinVar, OMIM, HUMSAVAR link to OMIM 19RAX2, HMCN1, ERCC6, TLR4, HTRA1, CFHR1, CFI, CFH, C3, CFHR3, ABCA4, CX3CR1, FBLN5, C2, CFB, CST3, APOE, ARMS2, C9
248200STARGARDT DISEASE 1ClinVar, OMIM, HUMSAVAR link to OMIM 2CNGB3, ABCA4
PS268000RETINITIS PIGMENTOSAClinVar, OMIM link to OMIM 69PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A

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Annotation of the gene ABCA4

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
ABC transportershsa020107.28
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Retinoid cycle disease eventsR-HSA-24538649.28
Visual phototransductionR-HSA-21873386.44
Diseases of signal transductionR-HSA-56632024.89
ABC-family proteins mediated transportR-HSA-3825567.59
Diseases associated with visual transductionR-HSA-24747959.28
Transmembrane transport of small moleculesR-HSA-3825513.79
Signal TransductionR-HSA-1625821.78
The canonical retinoid cycle in rods (twilight vision)R-HSA-24539028.52
DiseaseR-HSA-16436853.33
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
phospholipid-translocating ATPase activityGO:00040126.97
bindingGO:00054880.18
ATPase activityGO:00168873.65
heterocyclic compound bindingGO:19013631.06
purine nucleoside bindingGO:00018832.22
nucleoside bindingGO:00018822.21
phospholipid transporter activityGO:00055485.87
ATPase activity, coupled to transmembrane movement of substancesGO:00426265.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substancesGO:00168205.03
ATPase activity, coupledGO:00426233.97
nucleotide bindingGO:00001661.96
primary active transmembrane transporter activityGO:00153994.98
GO:00053959.74
nucleoside phosphate bindingGO:19012651.96
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
active transmembrane transporter activityGO:00228043.85
lipid transporter activityGO:00053195.03
hydrolase activityGO:00167871.9
transporter activityGO:00052152.57
nucleoside-triphosphatase activityGO:00171113.09
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
substrate-specific transporter activityGO:00228922.72
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
ATPase activity, coupled to movement of substancesGO:00434924.93
hydrolase activity, acting on acid anhydridesGO:00168173.03
P-P-bond-hydrolysis-driven transmembrane transporter activityGO:00154054.98
pyrophosphatase activityGO:00164623.04
transmembrane transporter activityGO:00228572.82
adenyl ribonucleotide bindingGO:00325592.41
ATP bindingGO:00055242.43
purine ribonucleotide bindingGO:00325552.2
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19