SLC4A3 - solute carrier family 4 member 3 Gene

Homo sapiens

Also known as AE3; SLC2C; CAE3/BAE3

Gene ID: 6508 | Gene type: protein coding

About SLC4A3

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,627,630-219,641,971 (from NCBI)

This gene has 9 transcripts (splice variants), 211 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 53.3), ovary (RPKM 25.3) and 5 other tissues.

Summary

The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]

SLC4A3 Products(3)

mRNA	Protein	Name
NM_001326559.2	NP_001313488.2	anion exchange protein 3 isoform 2
NM_005070.4	NP_005061.3	anion exchange protein 3 isoform 1
NM_201574.3	NP_963868.3	anion exchange protein 3 isoform 2

SLC4A3 Protein Structure

Band_3_cyto

HCO3_cotransp

0
200
400
600
800
1000
1232 a.a.

Protein Preferred Names

Protein Names

anion exchange protein 3

Anion exchanger 3, neuronal

Related Diseases

Diseases

Alias

Familial Short Qt Syndrome

Sqts	Genetic Short Qt Syndrome

Subvalvular Aortic Stenosis

Fixed Subaortic Stenosis	Subaortic Stenosis
Aortic Stenosis, Subvalvular

Cataract 14, Multiple Types

Cataract 14 Multiple Types	CTRCT14
Czp3	Cae3
Cataract, Zonular Pulverulent 3	Zonular Pulverulent Cataract 3
Cataract, Zonular Pulverulent-3	Cataract, Type 14, Multiple Types

Complex Partial Epilepsy

Epilepsy, Complex Partial	Complex Partial Epileptic Seizure
Epilepsy, Psychomotor	Psychomotor Epilepsy

Cone-Rod Dystrophy 1

CORD1	Crd1
Cone-Rod Retinal Dystrophy-1	Retinitis Pigmentosa 1

Brown-Vialetto-Van Laere Syndrome 2

BVVLS2	Rfvt3-Related Riboflavin Transporter Deficiency
Rtd3	Riboflavin Transporter Deficiency 3
Brown-Vialetto-Van Laere Syndrome, Type 2

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy	Generalised Epilepsy
Epilepsy, Generalized	EIG
Ige	Epilepsy, Idiopathic Generalized, Susceptibility To, 1
Epilepsy, Idiopathic Generalized 1	Epilepsy, Idiopathic Generalized, Susceptibility To
Epilepsy, Idiopathic, Generalized	Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Hereditary Elliptocytosis

Congenital Elliptocytosis	Ovalocytosis
Elliptocytosis, Hereditary	He
Elliptocytosis Hereditary	Congenital Ovalocytosis
Elliptocytosis	Hereditary Elliptocytosis With Infantile Poikilocytosis
Hereditary Ovalocytosis	Oval Erythrocytosis
He - [Hereditary Elliptocytosis]	Elliptocytosis Anaemia

Familial Febrile Seizures

Familial Febrile Convulsions	Feb
Febrile Seizures, Familial

Late-Onset Retinal Degeneration

LORD	Retinal Degeneration, Late-Onset, Autosomal Dominant
Autosomal Dominant Late-Onset Retinal Degeneration	Pigmentary Retinopathy
Retinal Degeneration, Late-Onset	Retinitis Pigmentosa

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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-RS13269	SLC4A3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SLC4A3	MGD	MGI:109350
Canis familiaris	SLC4A3	VGNC	VGNC:46433
Bos taurus	SLC4A3	VGNC	VGNC:34893
Macaca mulatta	SLC4A3	VGNC	VGNC:77604
Felis catus	SLC4A3	VGNC	VGNC:65388
Rattus norvegicus	SLC4A3	RGD	RGD:3712

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