SLC4A4 - solute carrier family 4 member 4 Gene

Homo sapiens

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

Gene ID: 8671 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13270	SLC4A4 Human Pre-designed siRNA Set A		/	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

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