Gene table of AKR1C4 : aldo-keto reductase family 1 member C4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with AKR1C4	OMIM link	Number of associated genes	genes
PS400044	46,XY SEX REVERSAL	ClinVar, OMIM	link to OMIM	9	AKR1C2, AKR1C4, NR0B1, SRY, MAP3K1, CBX2, NR5A1, DHH, ZFPM2

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 pathway	KEGG ID	KEGG IC
Metabolism of xenobiotics by cytochrome P450	hsa00980	6.48
Metabolic pathways	hsa01100	2.49
Primary bile acid biosynthesis	hsa00120	8.68
Steroid hormone biosynthesis	hsa00140	6.93

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Retinoid metabolism and transport	R-HSA-975634	7.59
Bile acid and bile salt metabolism	R-HSA-194068	7.85
Visual phototransduction	R-HSA-2187338	6.44
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol	R-HSA-193368	8.4
Synthesis of bile acids and bile salts via 27-hydroxycholesterol	R-HSA-193807	9.08
Synthesis of bile acids and bile salts via 24-hydroxycholesterol	R-HSA-193775	9.18
Metabolism	R-HSA-1430728	2.34
Synthesis of bile acids and bile salts	R-HSA-192105	8.23
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
aldo-keto reductase (NADP) activity	GO:0004033	6.48
steroid dehydrogenase activity	GO:0016229	6.34
organic acid transmembrane transporter activity	GO:0005342	4.97
monocarboxylic acid transmembrane transporter activity	GO:0008028	6.18
organic hydroxy compound transmembrane transporter activity	GO:1901618	6.02
	GO:0047023	8.35
oxidoreductase activity	GO:0016491	3.12
bile acid transmembrane transporter activity	GO:0015125	7.03
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	GO:0016620	6.13
lipid transporter activity	GO:0005319	5.03
transporter activity	GO:0005215	2.57
steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	GO:0033764	6.48
catalytic activity	GO:0003824	1.05
oxidoreductase activity, acting on the aldehyde or oxo group of donors	GO:0016903	5.87
	GO:0001758	7.79
	GO:0047743	9.74
carboxylic acid transmembrane transporter activity	GO:0046943	4.99
electron carrier activity	GO:0009055	4.97
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
oxidoreductase activity, acting on CH-OH group of donors	GO:0016614	4.83
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	GO:0016616	5.0
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	GO:0016655	5.66
transmembrane transporter activity	GO:0022857	2.82
oxidoreductase activity, acting on NAD(P)H	GO:0016651	5.13