SLC4A3 - solute carrier family 4 member 3 Gene

Also Known as AE3; SLC2C; CAE3/BAE3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6508

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables bicarbonate transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
29167417 GOA
enables chloride:bicarbonate antiporter activity IDA
IDA: Inferred from direct assay
7923606 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in bicarbonate transport IMP
IMP: Inferred from mutant phenotype
29167417 GOA
acts upstream of or within cardiac conduction IMP
IMP: Inferred from mutant phenotype
29167417 GOA
involved in pH reduction IMP
IMP: Inferred from mutant phenotype
29167417 GOA
involved in regulation of cardiac muscle cell action potential IMP
IMP: Inferred from mutant phenotype
29167417 GOA
Cellular Component GO Annotation Evidence References Source
located in external side of plasma membrane IMP
IMP: Inferred from mutant phenotype
29167417 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
29167417 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

SLC4A3 Protein Structure

Band_3_cyto

Band_3_cyto: Band 3 cytoplasmic domain (350 - 617)

HCO3_cotransp

HCO3_cotransp: HCO3- transporter family (674 - 1161)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1232 a.a.
Protein Preferred Names Protein Names

anion exchange protein 3

  • Anion exchanger 3, neuronal

SLC4A3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC4A3 P48751 TRAF2 Homo sapiens Q12933
Validated Y2H
32296183
Intra
SLC4A3 P48751 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
Intra
SLC4A3 P48751 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13269 SLC4A3 Human Pre-designed siRNA Set A Pre-designed Set / 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