Gene table of ABCA12 : ATP binding cassette subfamily A member 12

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ABCA12	OMIM link	Number of associated genes	genes
PS242300	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	10	PNPLA1, ST14, ABCA12, NIPAL4, ALOXE3, LIPN, ALOX12B, CYP4F22, CERS3, TGM1

Download the gene annotation in CSV format

Annotation of the gene ABCA12

Associated genes in ENSEMBL

ENSG00000144452

Associated proteins - SwissProt Accession ID

Q86UK0

Associated PDB IDs

Cytogenetic Band

2q35

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
ABC transporters	hsa02010	7.28

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
	GO:0034040	8.64
ATPase activity	GO:0016887	3.65
purine nucleoside binding	GO:0001883	2.22
heterocyclic compound binding	GO:1901363	1.06
apolipoprotein A-I receptor binding	GO:0034191	8.35
nucleoside binding	GO:0001882	2.21
ATPase activity, coupled to transmembrane movement of substances	GO:0042626	5.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	GO:0016820	5.03
ATPase activity, coupled	GO:0042623	3.97
nucleotide binding	GO:0000166	1.96
primary active transmembrane transporter activity	GO:0015399	4.98
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
apolipoprotein receptor binding	GO:0034190	7.79
active transmembrane transporter activity	GO:0022804	3.85
lipid transporter activity	GO:0005319	5.03
hydrolase activity	GO:0016787	1.9
transporter activity	GO:0005215	2.57
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
substrate-specific transporter activity	GO:0022892	2.72
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ATPase activity, coupled to movement of substances	GO:0043492	4.93
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
purine ribonucleoside binding	GO:0032550	2.22
pyrophosphatase activity	GO:0016462	3.04
transmembrane transporter activity	GO:0022857	2.82
adenyl ribonucleotide binding	GO:0032559	2.41
ATP binding	GO:0005524	2.43
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
receptor binding	GO:0005102	2.43
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
ribonucleotide binding	GO:0032553	2.19
binding	GO:0005488	0.18