Gene table of SLC24A4 : solute carrier family 24 member 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC24A4	OMIM link	Number of associated genes	genes
PS104500	AMELOGENESIS IMPERFECTA	ClinVar, OMIM, HUMSAVAR	link to OMIM	12	C4orf26, AMELX, MMP20, SLC24A4, DLX3, FAM83H, ITGB6, FAM20A, WDR72, KLK4, LAMB3, ENAM
PS227220	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	ClinVar, OMIM	link to OMIM	12	SLC45A2, KITLG, TYRP1, SLC24A4, ASIP, TPCN2, IRF4, HERC2, TYR, MC1R, SLC24A5, OCA2

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Annotation of the gene SLC24A4

Associated genes in ENSEMBL

ENSG00000140090

Associated proteins - SwissProt Accession ID

Q8NFF2

Associated PDB IDs

Cytogenetic Band

14q32.12

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
SLC-mediated transmembrane transport	R-HSA-425407	4.95
Transport of inorganic cations/anions and amino acids/oligopeptides	R-HSA-425393	6.41
Sodium/Calcium exchangers	R-HSA-425561	9.81
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ion antiporter activity	GO:0099516	5.75
cation channel activity	GO:0005261	4.04
calcium channel activity	GO:0005262	5.03
binding	GO:0005488	0.18
calcium, potassium:sodium antiporter activity	GO:0008273	8.13
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
calcium ion transmembrane transporter activity	GO:0015085	4.89
potassium ion binding	GO:0030955	7.03
sodium ion transmembrane transporter activity	GO:0015081	4.83
cation:cation antiporter activity	GO:0015491	6.48
transmembrane transporter activity	GO:0022857	2.82
ion binding	GO:0043167	1.36
calcium ion binding	GO:0005509	3.17
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
potassium ion antiporter activity	GO:0022821	7.79
active transmembrane transporter activity	GO:0022804	3.85
antiporter activity	GO:0015297	5.33
secondary active transmembrane transporter activity	GO:0015291	4.29
symporter activity	GO:0015293	4.78
cation binding	GO:0043169	1.4
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
solute:cation antiporter activity	GO:0015298	6.24
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
sodium ion binding	GO:0031402	7.1
alkali metal ion binding	GO:0031420	6.69
ion transmembrane transporter activity	GO:0015075	3.04
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
channel activity	GO:0015267	3.6
calcium:cation antiporter activity	GO:0015368	7.44
substrate-specific channel activity	GO:0022838	3.67
potassium ion transmembrane transporter activity	GO:0015079	4.77