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Aliases for SLC4A3 Gene

Aliases for SLC4A3 Gene

  • Solute Carrier Family 4 Member 3 2 3 4 5
  • 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
  • CAE3/BAE3 3 4
  • AE3 3 4
  • Solute Carrier Family 4, Anion Exchanger, Member 3 2
  • Anion Exchanger 3 Cardiac Isoform 3
  • Anion Exchange Protein 3 3
  • Anion Exchanger 3 4
  • SLC2C 3
  • 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. Among its related pathways are Hepatic ABC Transporters and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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 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

Additional gene information for SLC4A3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC4A3 Gene

Genomics for SLC4A3 Gene

GeneHancer (GH) Regulatory Elements for SLC4A3 Gene

Promoters and enhancers for SLC4A3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I219627 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.4 432 1.1 CTCF ESRRA KLF1 ZBTB6 ZIC2 ZNF335 ZFHX2 GLIS2 POLR2A EGR1 ENSG00000228973 SLC4A3 GC02P219631
GH02I219683 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 11.4 +60.3 60348 7.4 PKNOX1 ARID4B SIN3A ZNF143 RUNX3 SP3 CAVIN1 GTF2B NFYC REST OBSL1 CHPF TMEM198 ENSG00000228973 SLC4A3 DNPEP DNAJB2 ATG9A GC02M219685 LOC105373886
GH02I219574 Enhancer 1.2 ENCODE dbSUPER 11.5 -51.0 -50995 3.6 PKNOX1 FOXA2 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 ETS1 INHA CHPF TMEM198 SLC4A3 ENSG00000228973 OBSL1 ASIC4 GMPPA RN7SKP213
GH02I219660 Enhancer 1.1 Ensembl ENCODE 11.4 +34.9 34909 3.1 PKNOX1 ARNT NFRKB ZNF529 ZNF280A TCF12 CBX5 ZNF143 ATF7 ZNF280D ENSG00000269068 SLC4A3 ENSG00000228973 STK36 ENSG00000267919 GC02M219685
GH02I219578 Enhancer 0.8 Ensembl ENCODE 11.5 -48.2 -48216 1.3 SOX13 GATAD2A SIN3A CEBPB E2F4 CEBPG EP300 ZNF335 GATA3 CEBPA NHEJ1 TMEM198 CHPF SLC23A3 SLC4A3 ENSG00000228973 GMPPA ANKZF1 CNPPD1 ASIC4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC4A3 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SLC4A3 Gene

Genomic Locations for SLC4A3 Gene
chr2:219,627,327-219,641,980
(GRCh38/hg38)
Size:
14,654 bases
Orientation:
Plus strand
chr2:220,492,049-220,506,702
(GRCh37/hg19)

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

No Post-translational modifications

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

Suggested Antigen Peptide Sequences for SLC4A3 Gene

GenScript: Design optimal peptide antigens:

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

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
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(-).

Gene Ontology (GO) - Molecular Function for SLC4A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005452 inorganic anion exchanger activity TAS --
GO:0008509 anion transmembrane transporter activity IEA --
GO:0008510 sodium:bicarbonate symporter activity IBA --
GO:0015297 antiporter activity IEA --
GO:0015301 anion:anion 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 Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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:0016020 membrane TAS,IEA 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

Gene Ontology (GO) - Biological Process for SLC4A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 7923606
GO:0006811 ion transport IEA --
GO:0006820 anion transport IEA --
GO:0015698 inorganic anion transport IEA --
GO:0015701 bicarbonate transport TAS --
genes like me logo Genes that share ontologies with SLC4A3: view

No data available for SIGNOR curated interactions for SLC4A3 Gene

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

Unigene Clusters for SLC4A3 Gene

Solute carrier family 4, anion exchanger, member 3:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for SLC4A3 Gene

GeneLoc Exon Structure for
SLC4A3
ECgene alternative splicing isoforms for
SLC4A3

Expression for SLC4A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SLC4A3 Gene



Protein tissue co-expression partners for SLC4A3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC4A3 Gene:

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)
genes like me logo Genes that share expression patterns with SLC4A3: view

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 33 34
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia SLC4A3 33 34
  • 89.94 (n)
cow
(Bos Taurus)
Mammalia SLC4A3 33 34
  • 89.09 (n)
rat
(Rattus norvegicus)
Mammalia Slc4a3 33
  • 88.24 (n)
mouse
(Mus musculus)
Mammalia Slc4a3 33 16 34
  • 88.18 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC4A3 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC4A3 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC4A3 33 34
  • 70.77 (n)
lizard
(Anolis carolinensis)
Reptilia SLC4A3 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495394 33
  • 68.88 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333073 33
  • 64.3 (n)
SLC4A3 34
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8177 35 34
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea abts-4 34
  • 29 (a)
OneToMany
R03E9.3 35
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BOR1 34
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BOR1 33
  • 44.55 (n)
rice
(Oryza sativa)
Liliopsida Os12g0566000 33
  • 45.88 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
Species where no ortholog for SLC4A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for SLC4A3 Gene

Paralogs for SLC4A3 Gene

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

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

Variants for SLC4A3 Gene

Sequence variations from dbSNP and Humsavar for SLC4A3 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs376572581 uncertain-significance, not provided 219,639,524(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs387907529 uncertain-significance, not provided 219,628,499(+) A/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs387907530 uncertain-significance, not provided 219,630,205(+) C/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs387907531 uncertain-significance, not provided 219,629,297(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs387907532 uncertain-significance, not provided 219,630,222(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant

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

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

Disorders for SLC4A3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC4A3 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
cataract 14, multiple types
  • ctrct14
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC4A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  3. Genetic susceptibility to febrile seizures: case-control association studies. (PMID: 19854014) Kira R … Hara T (Brain & development 2010) 3 44 58
  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 58
  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 44 58

Products for SLC4A3 Gene

Sources for SLC4A3 Gene

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