Gene table of SLC25A12 : solute carrier family 25 member 12

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC25A12	OMIM link	Number of associated genes	genes
612949	HYPOMYELINATION, GLOBAL CEREBRAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SLC25A12

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

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of carbohydrates	R-HSA-71387	4.93
Mitochondrial protein import	R-HSA-1268020	7.28
Metabolism of proteins	R-HSA-392499	3.41
Metabolism	R-HSA-1430728	2.34
Gluconeogenesis	R-HSA-70263	8.03
Glucose metabolism	R-HSA-70326	6.77

Associated GO terms for Molecular function

GO term	GO ID	GO IC
organic acid transmembrane transporter activity	GO:0005342	4.97
binding	GO:0005488	0.18
structural molecule activity	GO:0005198	3.1
L-aspartate transmembrane transporter activity	GO:0015183	8.13
cation binding	GO:0043169	1.4
C4-dicarboxylate transmembrane transporter activity	GO:0015556	7.79
anion transmembrane transporter activity	GO:0008509	4.43
ion binding	GO:0043167	1.36
structural constituent of ribosome	GO:0003735	4.32
calcium ion binding	GO:0005509	3.17
transporter activity	GO:0005215	2.57
metal ion binding	GO:0046872	1.41
dicarboxylic acid transmembrane transporter activity	GO:0005310	7.03
L-glutamate transmembrane transporter activity	GO:0005313	7.17
carboxylic acid transmembrane transporter activity	GO:0046943	4.99
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
organic anion transmembrane transporter activity	GO:0008514	5.31
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
amino acid transmembrane transporter activity	GO:0015171	5.38
acidic amino acid transmembrane transporter activity	GO:0015172	7.1