Gene table of ABCB6 : ATP binding cassette subfamily B member 6 (Langereis blood group)

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ABCB6	OMIM link	Number of associated genes	genes
PS127500	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ABCB6
PS300345	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	ClinVar, OMIM, HUMSAVAR	link to OMIM	8	TENM3, RBP4, GDF6, SHH, STRA6, GDF3, ABCB6, VSX2
111600	BLOOD GROUP, LANGEREIS SYSTEM	OMIM	link to OMIM	1	ABCB6
609153	PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK	ClinVar, OMIM	link to OMIM	1	ABCB6

Download the gene annotation in CSV format

Annotation of the gene ABCB6

Associated genes in ENSEMBL

ENSG00000115657

Associated proteins - SwissProt Accession ID

Q9NP58

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

REACTOME pathway	REACTOME ID	REACTOME IC
Mitochondrial ABC transporters	R-HSA-1369007	10.98
Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7)	R-HSA-5683371	12.98
ABC-family proteins mediated transport	R-HSA-382556	7.59
Disorders of transmembrane transporters	R-HSA-5619115	10.66
Transmembrane transport of small molecules	R-HSA-382551	3.79
ABC transporter disorders	R-HSA-5619084	10.66
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
cofactor transporter activity	GO:0051184	6.69
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
heme transporter activity	GO:0015232	7.66
ATPase activity, coupled	GO:0042623	3.97
nucleotide binding	GO:0000166	1.96
primary active transmembrane transporter activity	GO:0015399	4.98
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
active transmembrane transporter activity	GO:0022804	3.85
hydrolase activity	GO:0016787	1.9
heme binding	GO:0020037	4.86
transporter activity	GO:0005215	2.57
	GO:0015439	9.74
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
efflux transmembrane transporter activity	GO:0015562	8.35
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
tetrapyrrole binding	GO:0046906	4.8
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
purine ribonucleotide binding	GO:0032555	2.2
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
ribonucleotide binding	GO:0032553	2.19