Gene table of SLC4A1 : solute carrier family 4 member 1 (Diego blood group)

Gene-disease associations table

Disease IDDisease nameSource of annotation with SLC4A1OMIM linkNumber of associated genesgenes
166900OVALOCYTOSIS, SOUTHEAST ASIANOMIM link to OMIM 1SLC4A1
112050BLOOD GROUP--WRIGHT ANTIGENOMIM link to OMIM 1SLC4A1
601551BLOOD GROUP--FROESEOMIM link to OMIM 1SLC4A1
110500BLOOD GROUP--DIEGO SYSTEMOMIM link to OMIM 1SLC4A1
611590RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIAClinVar, OMIM, HUMSAVAR link to OMIM 1SLC4A1
611162MALARIA, SUSCEPTIBILITY TOOMIM link to OMIM 16FCGR2A, TIRAP, ICAM1, ACKR1, G6PD, GYPC, TNF, SLC4A1, NOS2, HBB, CISH, GYPB, FCGR2B, CR1, CD36, GYPA
185020CRYOHYDROCYTOSISClinVar, OMIM link to OMIM 1SLC4A1
601550BLOOD GROUP--SWANN SYSTEMOMIM link to OMIM 1SLC4A1
112010BLOOD GROUP--WALDNER TYPEOMIM link to OMIM 1SLC4A1
179800RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANTClinVar, OMIM, HUMSAVAR link to OMIM 1SLC4A1
612653SPHEROCYTOSIS, TYPE 4ClinVar, OMIM, HUMSAVAR link to OMIM 1SLC4A1

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Annotation of the gene SLC4A1

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 pathwayKEGG IDKEGG IC
Collecting duct acid secretionhsa049667.91
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
O2/CO2 exchange in erythrocytesR-HSA-14809269.98
Erythrocytes take up oxygen and release carbon dioxideR-HSA-12476739.98
Transmembrane transport of small moleculesR-HSA-3825513.79
Transport of inorganic cations/anions and amino acids/oligopeptidesR-HSA-4253936.41
MetabolismR-HSA-14307282.34
SLC-mediated transmembrane transportR-HSA-4254074.95
Bicarbonate transportersR-HSA-4253819.81
Erythrocytes take up carbon dioxide and release oxygenR-HSA-12370449.98
Associated GO terms for Molecular function
GO termGO IDGO IC
ion antiporter activityGO:00995165.75
protein C-terminus bindingGO:00080224.5
enzyme bindingGO:00198992.27
bindingGO:00054880.18
ankyrin bindingGO:00305066.74
anion transmembrane transporter activityGO:00085094.43
actin bindingGO:00037793.74
bicarbonate transmembrane transporter activityGO:00151066.79
inorganic anion transmembrane transporter activityGO:00151034.87
chloride transmembrane transporter activityGO:00151085.24
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16
antiporter activityGO:00152975.33
secondary active transmembrane transporter activityGO:00152914.29
transporter activityGO:00052152.57
substrate-specific transmembrane transporter activityGO:00228912.9
substrate-specific transporter activityGO:00228922.72
anion:anion antiporter activityGO:00153016.41
cytoskeletal protein bindingGO:00080923.02
organic anion transmembrane transporter activityGO:00085145.31
protein anchorGO:00434957.66
ion transmembrane transporter activityGO:00150753.04
transmembrane transporter activityGO:00228572.82
active transmembrane transporter activityGO:00228043.85
protein bindingGO:00055150.46
inorganic anion exchanger activityGO:00054526.69
protein dimerization activityGO:00469832.72