SLC4A4 - solute carrier family 4 member 4 Gene

Also Known as KNBC; NBC1; NBC2; pNBC; HNBC1; NBCe1; hhNMC; kNBC1; SLC4A5; NBCe1-A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8671

About SLC4A4

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:71,062,660-71,572,083 (from NCBI)

This gene has 10 transcripts (splice variants), 283 orthologues, 9 paralogues and is associated with 4 phenotypes. Biased expression in kidney (RPKM 56.0), pancreas (RPKM 31.5) and 12 other tissues.

Summary

This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

SLC4A4 Products (3)

mRNA	Protein	Name
NM_001098484.3	NP_001091954.1	electrogenic sodium bicarbonate cotransporter 1 isoform 1
NM_001134742.2	NP_001128214.1	electrogenic sodium bicarbonate cotransporter 1 isoform 3
NM_003759.4	NP_003750.1	electrogenic sodium bicarbonate cotransporter 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	20798035	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14567693	GOA
enables sodium:bicarbonate symporter activity	IDA IDA: Inferred from direct assay	9235899	GOA
enables sodium:bicarbonate symporter activity	IMP IMP: Inferred from mutant phenotype	15218065	GOA
enables symporter activity	IMP IMP: Inferred from mutant phenotype	29500354	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in bicarbonate transport	IDA IDA: Inferred from direct assay	10069984	GOA
involved in bicarbonate transport	IMP IMP: Inferred from mutant phenotype	16636648	GOA
acts upstream of positive regulation of glycolytic process	IGI IGI: Inferred from genetic interaction	21976511	GOA
acts upstream of regulation of intracellular pH	IDA IDA: Inferred from direct assay	10069984	GOA
acts upstream of regulation of intracellular pH	IGI IGI: Inferred from genetic interaction	21976511	GOA
involved in regulation of intracellular pH	IMP IMP: Inferred from mutant phenotype	24453308	GOA
acts upstream of regulation of membrane potential	IDA IDA: Inferred from direct assay	10069984	GOA
involved in sodium ion export across plasma membrane	IMP IMP: Inferred from mutant phenotype	16636648	GOA
involved in sodium ion transmembrane transport	IDA IDA: Inferred from direct assay	10069984	GOA
involved in sodium ion transport	IDA IDA: Inferred from direct assay	16769890	GOA
involved in transmembrane transport	IMP IMP: Inferred from mutant phenotype	29500354	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	12907161	GOA
located in basolateral plasma membrane	IMP IMP: Inferred from mutant phenotype	15713912	GOA
located in cell surface	IDA IDA: Inferred from direct assay	29500354	GOA
is active in membrane	IDA IDA: Inferred from direct assay	10069984	GOA
located in membrane	IDA IDA: Inferred from direct assay	27717805	GOA
is active in plasma membrane	IDA IDA: Inferred from direct assay	16636648	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	10069984	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	15817634	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC4A4 Protein Structure

Band_3_cyto

HCO3_cotransp

0
200
400
600
800
1000
1079 a.a.

Protein Preferred Names	Protein Names
electrogenic sodium bicarbonate cotransporter 1	Na(+)/HCO3(-) cotransporter

SLC4A4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89587	SLC4A4 Antibody (YA8931)	WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA	human, mouse, rat

Related Diseases

Diseases	Alias
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	Autosomal Recessive Proximal Renal Tubular Acidosis Renal Tubular Acidosis, Proximal, With Ocular Abnormalities Rta, Proximal, Autosomal Recessive Ar Prta Proximal Renal Tubular Acidosis With Ocular Abnormalities And Intellectual Disability Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Intellectual Disability PRTA-OA Autosomal Recessive Proximal Rta Proximal Renal Tubular Acidosis With Ocular Abnormalities Acidosis, Tubular, Renal, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis	Acidosis Renal Tubular Acidosis, Renal Tubular Lightwood-Albright Syndrome Lightwood Syndrome Idiopathic Infantile Hypercalcemia - Mild Form Kidney Tubular Acidosis Renal Tubule Acidosis Kidney Acidosis Renal Acidosis Renal Hyperchloremic Acidosis Rta - [Renal Tubular Acidosis]
Renal Tubular Acidosis, Proximal	Proximal Renal Tubular Acidosis Renal Tubular Acidosis Ii Rta, Proximal Type Rta, Rate Type Renal Tubular Acidosis Type 2 Prta Renal Tubular Acidosis, Type Ii
Corneal Dystrophy, Band-Shaped	Band Keratopathy Band-Shaped Keratopathy
Metabolic Acidosis
Corneal Degeneration	Degenerative Corneal Opacity
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hupra Syndrome Alkalosis HUPRAS Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome Alkalosis Nos
Corneal Endothelial Dystrophy	Congenital Hereditary Endothelial Dystrophy Of Cornea Chandler Syndrome CHED Chandler'S Syndrome Endothelial Corneal Dystrophy Ched2 Maumenee Corneal Dystrophy Corneal Dystrophy, Congenital Hereditary Endothelial Dystrophy Of Corneal Endothelium Corneal Endothelial Dystrophy 2 Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly Ched2, Formerly Corneal Endothelial Dystrophy, Autosomal Recessive Endothelial Dystrophy Posterior Membrane Corneal Dystrophy Corneal Endothelial Dystrophy Type 2 Congenital Hereditary Endothelial Dystrophy Of The Cornea Congenital Hereditary Endothelial Dystrophy Type Ii Autosomal Recessive Ched Autosomal Recessive Congenital Hereditary Endothelial Dystrophy Chedii Congenital Hereditary Endothelial Dystrophy Type 2 Infantile Hereditary Endothelial Dystrophy Congenital Hereditary Endothelial Corneal Dystrophy Corneal Endothelial Dystrophy 2, Autosomal Recessive Iridocorneal Endothelial Syndrome Dystrophy, Corneal, Endothelial Corneal Endothelial Dystrophy 1, Autosomal Dominant
Ileus	Ileus Of Intestine
Intraocular Pressure Quantitative Trait Locus	Glaucoma IOPQTL Glaucoma, Susceptibility To Postinfectious Glaucoma Glaucoma With Ocular Inflammation Glaucoma Secondary To Eye Inflammation Traumatic Glaucoma Glaucoma With Concussion Of Globe Glaucoma Due To Ocular Trauma Glaucoma Associated With Ocular Trauma Glaucoma Secondary To Drugs
Migraine, Familial Hemiplegic, 3	FHM3 Familial Hemiplegic Migraine 3 Mhp3 Migraine, Hemiplegic, Familial, Type 3
Migraine, Familial Hemiplegic, 2	FHM2 Mhp2 Migraine, Familial Basilar Familial Hemiplegic Migraine 2 Familial Hemiplegic Migraine-2 Familiar Basilar Migraine Migraine, Hemiplegic, Familial, Type 2
Intestinal Impaction
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis With Renal Tubular Acidosis Marble Brain Disease OPTB3 Guibaud-Vainsel Syndrome Carbonic Anhydrase Ii Deficiency Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis Autosomal Recessive Osteopetrosis 3 Carbonic Anhydrase 2 Deficiency Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis Osteopetrosis Autosomal Recessive 3 Autosomal Recessive Osteopetrosis Type 3 Guibaud Vainsel Syndrome Mixed Rta Mixed Renal Tubular Acidosis Renal Tubular Acidosis Type 3 Carbonic Anhydrase Ii Deficiency Syndrome Carbonic Anhydrase Ii Variant Osteopetrosis, Autosomal Recessive, Type 3 Carbonic Anhydrase 2
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Corneal Dystrophy And Perceptive Deafness	Corneal Dystrophy-Perceptive Deafness Syndrome CDPD Harboyan Syndrome Cdpd1 Corneal Dystrophy And Sensorineural Deafness Corneal Endothelial Dystrophy And Perceptive Deafness Corneal Dystrophy With Progressive Deafness Congenital Corneal Dystrophy, Progressive Sensorineural Deafness Corneal Dystrophy With Progressive Hearing Loss Corneal Dystrophy-Perceptive Hearing Loss Syndrome Dystrophy, Corneal, Endothelial, And Perceptive Deafness
Migraine, Familial Hemiplegic, 1	FHM1 Mhp1 Fhm Familial Hemiplegic Migraine 1 Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia Migraine, Hemiplegic, Familial, Type 1 Hemiplegic Migraine, Familial Type 1
Osteopetrosis, Autosomal Recessive 6	OPTB6 Autosomal Recessive Osteopetrosis 6 Autosomal Recessive Osteopetrosis Intermediate Form Osteopetrosis, Autosomal Recessive, Intermediate Form Osteopetrosis Autosomal Recessive 6 Autosomal Recessive Osteopetrosis Type 6 Osteopetrosis Autosomal Recessive Intermediate Form Intermediate Osteopetrosis Autosomal Recessive Intermediate Osteopetrosis Osteopetrosis, Autosomal Recessive, Type 6
Retinitis Pigmentosa 17	RP17 Retinitis Pigmentosa-17 Retinitis Pigmentosa, Type 17
Familial Hemiplegic Migraine	Hemiplegic Migraine, Familial Hemiplegic-Ophthalmoplegic Migraine Fhm Hemiplegic Migraine Familial
Basal Ganglia Calcification	Fahr'S Syndrome Fahr'S Disease Fahr Disease
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Fuchs' Endothelial Dystrophy	Fuchs Endothelial Corneal Dystrophy Fuchs Endothelial Dystrophy Fuchs Dystrophy Fced Fuchs' Corneal Dystrophy Fuchs' Endothelial Corneal Dystrophy Fuchs Atrophy Fuchs Corneal Dystrophy Endoepithelial Corneal Dystrophy Fecd Late Hereditary Endothelial Dystrophy Corneal Dystrophy, Fuchs Endothelial Dystrophy, Corneal, Fuchs Endothelial Corneal Dystrophy, Fuchs' Endothelial, 1
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS19074	Slc4a4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13270	SLC4A4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25564	Slc4a4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC4A4	VGNC	VGNC:46434
Mus musculus	SLC4A4	MGD	MGI:1927555
Macaca mulatta	SLC4A4	VGNC	VGNC:77605
Bos taurus	SLC4A4	VGNC	VGNC:34894
Rattus norvegicus	SLC4A4	RGD	RGD:68936
Felis catus	SLC4A4	VGNC	VGNC:65389
Others	SLC4A4	NCBI