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] See more...

Aliases for SLC4A3 Gene

Aliases for SLC4A3 Gene

  • Solute Carrier Family 4 Member 3 2 3 4 5
  • AE3 2 3 4
  • Solute Carrier Family 4 (Anion Exchanger), Member 3 2 3
  • Cardiac/Brain Band 3-Like Protein 3 4
  • Neuronal Band 3-Like Protein 3 4
  • Anion Exchanger 3, Neuronal 2 3
  • Anion Exchange Protein 3 3 4
  • CAE3/BAE3 3 4
  • SLC2C 2 3
  • Solute Carrier Family 4, Anion Exchanger, Member 3 2
  • Anion Exchanger 3 4
  • SLC4A3 5
  • AE 3 4

External Ids for SLC4A3 Gene

Previous GeneCards Identifiers for SLC4A3 Gene

  • GC02P218515
  • GC02P219214
  • GC02P220456
  • GC02P220695
  • GC02P220694
  • GC02P220317
  • GC02P220200
  • GC02P220492
  • GC02P212345

Summaries for SLC4A3 Gene

Entrez Gene Summary for SLC4A3 Gene

  • 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]

GeneCards Summary for SLC4A3 Gene

SLC4A3 (Solute Carrier Family 4 Member 3) is a Protein Coding gene. Diseases associated with SLC4A3 include Cataract 14, Multiple Types and Short Qt Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Hepatic ABC Transporters. Gene Ontology (GO) annotations related to this gene include transporter activity and anion transmembrane transporter activity. An important paralog of this gene is SLC4A2.

UniProtKB/Swiss-Prot Summary for SLC4A3 Gene

  • Plasma membrane anion exchange protein of wide distribution. Mediates at least a part of the Cl(-)/HCO3(-) exchange in cardiac myocytes. Both BAE3 and CAE3 forms transport Cl(-).

Gene Wiki entry for SLC4A3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC4A3 Gene

Genomics for SLC4A3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC4A3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC4A3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC4A3

Top Transcription factor binding sites by QIAGEN in the SLC4A3 gene promoter:
  • MyoD

Genomic Locations for SLC4A3 Gene

Latest Assembly
chr2:219,627,394-219,641,980
(GRCh38/hg38)
Size:
14,587 bases
Orientation:
Plus strand

Previous Assembly
chr2:220,492,352-220,506,693
(GRCh37/hg19 by Entrez Gene)
Size:
14,342 bases
Orientation:
Plus strand

chr2:220,492,049-220,506,702
(GRCh37/hg19 by Ensembl)
Size:
14,654 bases
Orientation:
Plus strand

Genomic View for SLC4A3 Gene

Genes around SLC4A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC4A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC4A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC4A3 Gene

Proteins for SLC4A3 Gene

  • Protein details for SLC4A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48751-B3A3_HUMAN
    Recommended name:
    Anion exchange protein 3
    Protein Accession:
    P48751
    Secondary Accessions:
    • A6H8L2
    • A8K1Q9
    • B7ZVX6
    • B9EGD1
    • Q6YIQ9

    Protein attributes for SLC4A3 Gene

    Size:
    1232 amino acids
    Molecular mass:
    135791 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC4A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC4A3 Gene

Post-translational modifications for SLC4A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC4A3 Gene

Domains & Families for SLC4A3 Gene

Gene Families for SLC4A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC4A3 Gene

InterPro:
Blocks:
  • HCO3- transporter, cytoplasmic
  • Anion exchange protein
  • Anion exchanger isoform 3 signature

Suggested Antigen Peptide Sequences for SLC4A3 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 4 member 3 (B3A3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48751

UniProtKB/Swiss-Prot:

B3A3_HUMAN :
  • Belongs to the anion exchanger (TC 2.A.31) family.
Family:
  • Belongs to the anion exchanger (TC 2.A.31) family.
genes like me logo Genes that share domains with SLC4A3: view

Function for SLC4A3 Gene

Molecular function for SLC4A3 Gene

UniProtKB/Swiss-Prot Function:
Plasma membrane anion exchange protein of wide distribution. Mediates at least a part of the Cl(-)/HCO3(-) exchange in cardiac myocytes. Both BAE3 and CAE3 forms transport Cl(-).
GENATLAS Biochemistry:
solute carrier family 4 (chloride-bicarbonate,anion exchange),member 3,expressed in human heart,isoform 3c in brain and stomach,containing an intronic CGG repeat

Phenotypes From GWAS Catalog for SLC4A3 Gene

Gene Ontology (GO) - Molecular Function for SLC4A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005452 inorganic anion exchanger activity IEA --
GO:0005515 protein binding IPI 32296183
GO:0008509 anion transmembrane transporter activity IEA --
GO:0015106 bicarbonate transmembrane transporter activity IMP 29167417
GO:0015297 antiporter activity IEA --
genes like me logo Genes that share ontologies with SLC4A3: view
genes like me logo Genes that share phenotypes with SLC4A3: view

Animal Models for SLC4A3 Gene

MGI Knock Outs for SLC4A3:

Animal Models for research

  • Taconic Biosciences Mouse Models for SLC4A3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC4A3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SLC4A3 Gene

Localization for SLC4A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC4A3 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC4A3 gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC4A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7923606
GO:0009897 external side of plasma membrane IMP 29167417
GO:0016020 membrane IEA,TAS 7923606
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC4A3: view

Pathways & Interactions for SLC4A3 Gene

genes like me logo Genes that share pathways with SLC4A3: view

Pathways by source for SLC4A3 Gene

SIGNOR curated interactions for SLC4A3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SLC4A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006820 anion transport IEA --
GO:0015698 inorganic anion transport IEA --
GO:0015701 bicarbonate transport IMP,TAS --
GO:0050801 ion homeostasis IBA 21873635
genes like me logo Genes that share ontologies with SLC4A3: view

Drugs & Compounds for SLC4A3 Gene

(2) Additional Compounds for SLC4A3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC4A3: view

Transcripts for SLC4A3 Gene

mRNA/cDNA for SLC4A3 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC4A3

Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A3 Gene

No ASD Table

Relevant External Links for SLC4A3 Gene

GeneLoc Exon Structure for
SLC4A3

Expression for SLC4A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC4A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC4A3 Gene

This gene is overexpressed in Heart - Left Ventricle (x11.1), Heart - Atrial Appendage (x7.9), and Ovary (x5.8).

Protein differential expression in normal tissues from HIPED for SLC4A3 Gene

This gene is overexpressed in Heart (43.2) and Retina (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC4A3 Gene



Protein tissue co-expression partners for SLC4A3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC4A3

SOURCE GeneReport for Unigene cluster for SLC4A3 Gene:

Hs.1176

mRNA Expression by UniProt/SwissProt for SLC4A3 Gene:

P48751-B3A3_HUMAN
Tissue specificity: Both BAE3 and CAE3 are expressed in failing ventricle.

Evidence on tissue expression from TISSUES for SLC4A3 Gene

  • Nervous system(4.7)
  • Heart(4.6)
  • Muscle(2.7)
genes like me logo Genes that share expression patterns with SLC4A3: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC4A3 Gene

Orthologs for SLC4A3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC4A3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC4A3 29 30
  • 99.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC4A3 29 30
  • 89.94 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC4A3 29 30
  • 89.09 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc4a3 29
  • 88.24 (n)
Mouse
(Mus musculus)
Mammalia Slc4a3 29 16 30
  • 88.18 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC4A3 30
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC4A3 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC4A3 29 30
  • 70.77 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC4A3 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100495394 29
  • 68.88 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100333073 29
  • 64.3 (n)
SLC4A3 30
  • 64 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG8177 30 31
  • 38 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea abts-4 30
  • 29 (a)
OneToMany
R03E9.3 31
  • 26 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BOR1 30
  • 24 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons BOR1 29
  • 44.55 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0566000 29
  • 45.88 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 46 (a)
OneToMany
Species where no ortholog for SLC4A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC4A3 Gene

ENSEMBL:
Gene Tree for SLC4A3 (if available)
TreeFam:
Gene Tree for SLC4A3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC4A3: view image
Alliance of Genome Resources:
Additional Orthologs for SLC4A3

Paralogs for SLC4A3 Gene

Paralogs for SLC4A3 Gene

(13) SIMAP similar genes for SLC4A3 Gene using alignment to 5 proteins:

  • B3A3_HUMAN
  • E9PCP1_HUMAN
  • F8WD49_HUMAN
  • H7C160_HUMAN
  • H7C1Z2_HUMAN
genes like me logo Genes that share paralogs with SLC4A3: view

Variants for SLC4A3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC4A3 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
769591 Benign: not provided 219,635,704(+) A/.
NM_005070.4(SLC4A3):c.2004= (p.Ala668=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,NO_SEQUENCE_ALTERATION
rs111434009 Benign: not provided 219,636,333(+) C/T
NM_005070.4(SLC4A3):c.2223C>T (p.Ser741=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs1553552538 Uncertain Significance: Inborn genetic diseases 219,638,171(+) G/A
NM_005070.4(SLC4A3):c.2774G>A (p.Arg925His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs200578821 Likely Benign: not provided 219,640,839(+) C/T
NM_005070.4(SLC4A3):c.3498C>T (p.Ile1166=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs35138558 Benign: not provided 219,632,980(+) C/T
NM_005070.4(SLC4A3):c.1248C>T (p.Ser416=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC4A3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC4A3 Gene

Variant ID Type Subtype PubMed ID
esv1005415 CNV deletion 20482838

Variation tolerance for SLC4A3 Gene

Residual Variation Intolerance Score: 30.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.61; 56.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC4A3 Gene

Human Gene Mutation Database (HGMD)
SLC4A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC4A3
Leiden Open Variation Database (LOVD)
SLC4A3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC4A3 Gene

Disorders for SLC4A3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SLC4A3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cataract 14, multiple types
  • ctrct14
short qt syndrome
  • sqts
subvalvular aortic stenosis
  • fixed subaortic stenosis
hereditary elliptocytosis
  • congenital elliptocytosis
epilepsy, idiopathic generalized
  • eig
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC4A3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC4A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC4A3 Gene

Publications for SLC4A3 Gene

  1. Molecular cloning, expression, and chromosomal localization of two isoforms of the AE3 anion exchanger from human heart. (PMID: 7923606) Yannoukakos D … Alper SL (Circulation research 1994) 3 4 22
  2. Molecular cloning and physical and genetic mapping of the human anion exchanger isoform 3 (SLC2C) gene to chromosome 2q36. (PMID: 8001971) Su YR … Menon AG (Genomics 1994) 2 3 22
  3. Genetic susceptibility to febrile seizures: case-control association studies. (PMID: 19854014) Kira R … Hara T (Brain & development 2010) 3 40
  4. Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3. (PMID: 19605733) Vilas GL … Casey JR (American journal of physiology. Cell physiology 2009) 3 22
  5. Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy. (PMID: 12399075) Sander T … Nürnberg P (Epilepsy research 2002) 22 40

Products for SLC4A3 Gene

Sources for SLC4A3 Gene