Gene table of SLC4A11 : solute carrier family 4 member 11

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC4A11	OMIM link	Number of associated genes	genes
217400	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SLC4A11
PS136800	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	SLC4A11, AGBL1, ZEB1, COL8A2, TCF4
217700	CORNEAL ENDOTHELIAL DYSTROPHY	OMIM, HUMSAVAR	link to OMIM	1	SLC4A11

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Annotation of the gene SLC4A11

Associated genes in ENSEMBL

ENSG00000088836

Associated proteins - SwissProt Accession ID

Q8NBS3

Associated PDB IDs

Cytogenetic Band

20p13

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

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
borate transmembrane transporter activity	GO:0046715	9.74
binding	GO:0005488	0.18
sodium channel activity	GO:0005272	6.13
sodium ion transmembrane transporter activity	GO:0015081	4.83
anion transmembrane transporter activity	GO:0008509	4.43
transmembrane transporter activity	GO:0022857	2.82
bicarbonate transmembrane transporter activity	GO:0015106	6.79
inorganic anion transmembrane transporter activity	GO:0015103	4.87
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
active transmembrane transporter activity	GO:0022804	3.85
antiporter activity	GO:0015297	5.33
secondary active transmembrane transporter activity	GO:0015291	4.29
hydrogen ion channel activity	GO:0015252	8.13
symporter activity	GO:0015293	4.78
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
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
anion:anion antiporter activity	GO:0015301	6.41
organic anion transmembrane transporter activity	GO:0008514	5.31
ion transmembrane transporter activity	GO:0015075	3.04
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
channel activity	GO:0015267	3.6
protein binding	GO:0005515	0.46
inorganic anion exchanger activity	GO:0005452	6.69
protein dimerization activity	GO:0046983	2.72
substrate-specific channel activity	GO:0022838	3.67