Gene Symbol:	SLC4A1 ( AE1,BND3,CD233,DI,EMPB3,EPB3,FR,MGC116750,MGC116753,MGC126619,MGC126623,RTA1A,SW,WD,WD1,WR )
Gene Full Name:	solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
Band:	17q21.31
Quick Links	Entrez ID:6521; OMIM: 109270; Uniprot ID:B3AT_HUMAN; ENSEMBL ID: ENSG00000004939; HGNC ID: 11027
Relate to Another Database:	SFARIGene; denovo-db

Desease ID	Desease Name
H00428	Distal renal tubular acidosis (RTA type 1)
	Circulatory system diseases
	Hematologic diseases
	Urinary system diseases
H00230	Hereditary spherocytosis
H00232	Hereditary stomatocytosis
H00231	Hereditary elliptocytosis
	Kidney diseases

Desease ID	Desease Name
1902	Kidney failure
2051	Leukemia
2053	Colon cancer
2152	Renal tubular acidosis
2204	Hemolytic anemia
2210	Hemoglobinopathies
2225	Gram-Negative bacterial infection
1882	Malaria

Chemical ID	Chemical Name	Interaction	Interaction Action	Publication
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of SLC4A1 mRNA	affects expression	16483693
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased degradation of SLC4A1 protein	increases degradation	15040847
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of SLC4A1 gene	increases mutagenesis	16724327
C008461	methyl isocyanate	methyl isocyanate binds to and results in increased degradation of SLC4A1 protein	affects binding\|increases degradation	8935787
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of SLC4A1 mRNA	decreases expression	17560707
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SLC4A1 mRNA	affects binding\|decreases expression\|increases activity	19710929

Disease ID	Disease Name	Direct Evidence	Inference Chemical Name	Inference Score	Publication
MESH:D000138	Acidosis		Ammonium Chloride	4.02	18287403
MESH:D000140	Acidosis, Lactic		methyl isocyanate	7.18	8440870
MESH:D000141	Acidosis, Renal Tubular	marker/mechanism
MESH:D055371	Acute Lung Injury		pirinixic acid	3.47	18653653
MESH:D000236	Adenoma		Ethylnitrosourea	3.88	6695378
MESH:D018248	Adenoma, Liver Cell		pirinixic acid	3.94	16434500
MESH:D000743	Anemia, Hemolytic	marker/mechanism
MESH:C538565	Autosomal dominant distal renal tubular acidosis	marker/mechanism
MESH:D001778	Blood Coagulation Disorders		pirinixic acid	3.47	19483382
MESH:D001927	Brain Diseases		Ethylnitrosourea	5.19	14991843
MESH:D001932	Brain Neoplasms		Ethylnitrosourea	4.59	15144691 16651633 16357521 16436596 18412241
MESH:D002471	Cell Transformation, Neoplastic		Ethylnitrosourea	3.93	16003739
MESH:D016543	Central Nervous System Neoplasms		Ethylnitrosourea	6.50	17160924
MESH:D002779	Cholestasis		pirinixic acid	3.05	19176532
MESH:D003876	Dermatitis, Atopic		pirinixic acid	2.55	18249437
MESH:D004476	Ectodermal Dysplasia		Ethylnitrosourea	6.50	18357618
MESH:D004487	Edema		pirinixic acid	2.80	12083418
MESH:D004612	Elliptocytosis, Hereditary	marker/mechanism
MESH:D005234	Fatty Liver		pirinixic acid	3.09	20131406 19236843
MESH:D005909	Glioblastoma		Ethylnitrosourea	8.53	16436596
MESH:D005909	Glioblastoma		perfluorooctane sulfonic acid	8.53	17162496
MESH:D005910	Glioma		Ethylnitrosourea	3.59	16651633 16357521 18412241
MESH:D006333	Heart Failure		pirinixic acid	2.71	20558911
MESH:D006529	Hepatomegaly		pirinixic acid	3.41	16221962 18467677 19176532 19772884
MESH:D006943	Hyperglycemia		methyl isocyanate	10.91	8440870
MESH:D006943	Hyperglycemia		pirinixic acid	10.91	20558911
MESH:D007333	Insulin Resistance		pirinixic acid	2.82	16306350
MESH:D007680	Kidney Neoplasms		Ethylnitrosourea	4.20	17379185
MESH:D008106	Liver Cirrhosis, Experimental		pirinixic acid	1.35	15474484
MESH:D008113	Liver Neoplasms		pirinixic acid	1.91	16377806 15890375 20007298
MESH:D008171	Lung Diseases		methyl isocyanate	5.41	1396463
MESH:D008175	Lung Neoplasms		Ethylnitrosourea	2.63	17703301 16271038 16019985 6695378
MESH:D008223	Lymphoma		Ethylnitrosourea	4.16	15790496
MESH:D016399	Lymphoma, T-Cell		Ethylnitrosourea	5.47	15375218
MESH:D008288	Malaria	marker/mechanism
MESH:D008325	Mammary Neoplasms, Experimental		Ethylnitrosourea	3.70	18041768 10838139 10767621
MESH:D008579	Meningioma		Ethylnitrosourea	6.50	17943659
MESH:D009135	Muscular Diseases		pirinixic acid	3.92	16239165
MESH:D009203	Myocardial Infarction		pirinixic acid	2.25	19151258
MESH:D015428	Myocardial Reperfusion Injury		pirinixic acid	3.19	16411023
MESH:D009369	Neoplasms		pirinixic acid	2.08	17405874
MESH:D009374	Neoplasms, Experimental		Ethylnitrosourea	4.82	16707424
MESH:D009442	Neurilemmoma		Ethylnitrosourea	5.88	17160924 16651423 16003739
MESH:D009765	Obesity		pirinixic acid	1.87	20558911
MESH:D009837	Oligodendroglioma		Ethylnitrosourea	6.50	17160924
MESH:D011658	Pulmonary Fibrosis		methyl isocyanate	4.79	7708994
MESH:C537758	Renal tubular acidosis, distal, autosomal recessive	marker/mechanism
OMIM:611590	RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA	marker/mechanism
MESH:D015427	Reperfusion Injury		pirinixic acid	2.52	19058328
MESH:D012878	Skin Neoplasms		tert-Butylhydroperoxide	2.81	8532709
MESH:D013103	Spherocytosis, Hereditary	marker/mechanism
OMIM:612653	SPHEROCYTOSIS, TYPE 4	marker/mechanism
MESH:D013953	Thymus Neoplasms		Ethylnitrosourea	5.62	15790496
MESH:D014511	Uremia		methyl isocyanate	7.46	8440870

Pathway ID	Pathway Name
KEGG:04966	Collecting duct acid secretion
REACT:15518	Transmembrane transport of small molecules

AutismKB 2.0

Annotation Detail for SLC4A1

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics