Gene table of ABCC9 : ATP binding cassette subfamily C member 9

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ABCC9	OMIM link	Number of associated genes	genes
PS115200	DILATED CARDIOMYOPATHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	36	MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1
PS608583	ATRIAL FIBRILLATION, FAMILIAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	13	SCN3B, NUP155, SCN2B, KCNQ1, GJA5, ABCC9, SCN4B, KCNE2, KCNJ2, KCNA5, SCN5A, NPPA, SCN1B
239850	CANTU SYNDROME	OMIM, HUMSAVAR	link to OMIM	1	ABCC9

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Annotation of the gene ABCC9

Associated genes in ENSEMBL

ENSG00000069431

Associated proteins - SwissProt Accession ID

O60706

Associated PDB IDs

Cytogenetic Band

12p12.1

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
Inwardly rectifying K+ channels	R-HSA-1296065	8.03
Defective ABCC9 causes dilated cardiomyopathy 10, familial atrial fibrillation 12 and hypertrichotic osteochondrodysplasia	R-HSA-5678420	12.98
Potassium Channels	R-HSA-1296071	6.35
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
Neuronal System	R-HSA-112316	4.82
ABC transporter disorders	R-HSA-5619084	10.66
ATP sensitive Potassium channels	R-HSA-1296025	10.98
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
potassium channel activity	GO:0005267	4.94
cation channel activity	GO:0005261	4.04
ATPase activity	GO:0016887	3.65
purine ribonucleoside triphosphate binding	GO:0035639	2.22
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
signaling receptor activity	GO:0038023	2.49
ion channel binding	GO:0044325	5.02
molecular function regulator	GO:0098772	2.51
heterocyclic compound binding	GO:1901363	1.06
anion transmembrane-transporting ATPase activity	GO:0043225	7.34
nucleoside binding	GO:0001882	2.21
ATPase coupled ion transmembrane transporter activity	GO:0042625	5.46
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
anion transmembrane transporter activity	GO:0008509	4.43
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
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
channel regulator activity	GO:0016247	4.88
purine nucleotide binding	GO:0017076	2.19
metal ion transmembrane transporter activity	GO:0046873	3.71
potassium channel regulator activity	GO:0015459	5.93
active transmembrane transporter activity	GO:0022804	3.85
hydrolase activity	GO:0016787	1.9
purine nucleoside binding	GO:0001883	2.22
transmembrane transporter activity	GO:0022857	2.82
	GO:0008281	9.05
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
transmembrane receptor activity	GO:0099600	2.53
passive transmembrane transporter activity	GO:0022803	3.6
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
substrate-specific transporter activity	GO:0022892	2.72
protein binding	GO:0005515	0.46
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
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
ion transmembrane transporter activity	GO:0015075	3.04
pyrophosphatase activity	GO:0016462	3.04
transmembrane signaling receptor activity	GO:0004888	2.57
channel activity	GO:0015267	3.6
adenyl ribonucleotide binding	GO:0032559	2.41
ATP binding	GO:0005524	2.43
active ion transmembrane transporter activity	GO:0022853	5.06
purine ribonucleotide binding	GO:0032555	2.2
substrate-specific channel activity	GO:0022838	3.67
potassium ion transmembrane transporter activity	GO:0015079	4.77
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
receptor activity	GO:0004872	2.32