Gene table of ABCC6 : ATP binding cassette subfamily C member 6

Gene-disease associations table

Disease IDDisease nameSource of annotation with ABCC6OMIM linkNumber of associated genesgenes
PS208000GENERALIZED ARTERIAL CALCIFICATION OF INFANCYClinVar, OMIM, HUMSAVAR link to OMIM 2ENPP1, ABCC6
264800PSEUDOXANTHOMA ELASTICUMClinVar, OMIM, HUMSAVAR link to OMIM 3XYLT1, XYLT2, ABCC6
177850PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEOMIM link to OMIM 1ABCC6

Download the gene annotation in CSV format

Annotation of the gene ABCC6

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
ABC transportershsa020107.28
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
ABC-family proteins mediated transportR-HSA-3825567.59
Transmembrane transport of small moleculesR-HSA-3825513.79
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
bindingGO:00054880.18
ATPase activityGO:00168873.65
heterocyclic compound bindingGO:19013631.06
anion transmembrane-transporting ATPase activityGO:00432257.34
nucleoside bindingGO:00018822.21
ATPase coupled ion transmembrane transporter activityGO:00426255.46
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
anion transmembrane transporter activityGO:00085094.43
nucleotide bindingGO:00001661.96
primary active transmembrane transporter activityGO:00153994.98
purine nucleoside bindingGO:00018832.22
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
active transmembrane transporter activityGO:00228043.85
hydrolase activityGO:00167871.9
transporter activityGO:00052152.57
nucleoside-triphosphatase activityGO:00171113.09
nucleoside phosphate bindingGO:19012651.96
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
substrate-specific transmembrane transporter activityGO:00228912.9
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
ion transmembrane transporter activityGO:00150753.04
pyrophosphatase activityGO:00164623.04
transmembrane transporter activityGO:00228572.82
adenyl ribonucleotide bindingGO:00325592.41
ATP bindingGO:00055242.43
active ion transmembrane transporter activityGO:00228535.06
purine ribonucleotide bindingGO:00325552.2
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19