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    SLC4A3 solute carrier family 4 member 3 [ Homo sapiens (human) ]

    Gene ID: 6508, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SLC4A3provided by HGNC
    Official Full Name
    solute carrier family 4 member 3provided by HGNC
    Primary source
    HGNC:HGNC:11029
    See related
    Ensembl:ENSG00000114923 MIM:106195; AllianceGenome:HGNC:11029
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AE3; SQT7; SLC2C; CAE3/BAE3
    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]
    Expression
    Biased expression in heart (RPKM 53.3), ovary (RPKM 25.3) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC4A3 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219627630..219641971)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (220112359..220126699)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220492352..220506693)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17156 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:220469784-220470983 Neighboring gene serine/threonine kinase 11 interacting protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220472989-220473488 Neighboring gene uncharacterized LOC124908064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220492855-220493557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220493558-220494259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220508228-220508999 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220509771-220510541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220510542-220511311 Neighboring gene CRISPRi-validated cis-regulatory element chr2.6714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220528008-220528541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220537307-220537807 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:220548733-220549932 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:220552697-220553896 Neighboring gene DNAJB6 pseudogene 3 Neighboring gene ribosomal protein L23 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The structural insight into the functional modulation of human anion exchanger 3. Jian L, et al. Nat Commun, 2024 Jul 20. PMID 39033175, Free PMC Article
    2. Molecular cloning, expression, and chromosomal localization of two isoforms of the AE3 anion exchanger from human heart. Yannoukakos D, et al. Circ Res, 1994 Oct. PMID 7923606
    3. Molecular cloning and physical and genetic mapping of the human anion exchanger isoform 3 (SLC2C) gene to chromosome 2q36. Su YR, et al. Genomics, 1994 Aug. PMID 8001971
    4. Expression of the Na+/H+ and Cl-/HCO-3 exchanger isoforms in proximal and distal human airways. Dudeja PK, et al. Am J Physiol, 1999 Jun. PMID 10362722
    5. Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease. Einum DD, et al. Neurogenetics, 1998 Aug. PMID 10732805

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The structural insight into the functional modulation of human anion exchanger 3.
      Title: The structural insight into the functional modulation of human anion exchanger 3.
    2. Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome.
      Title: Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome.
    3. Identify a missense mutation in the anion exchanger (AE3)-encoding SLC4A3 gene in two unrelated families with short QT syndrome. The mutation causes reduced surface expression of AE3 and reduced membrane bicarbonate transport.
      Title: Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome.
    4. SLC4A3 remains an excellent candidate gene for human retinal degeneration, and with the advent of whole exome and whole genome sequencing of cohorts of molecularly unsolved patients with syndromic and non-syndromic forms of retinal degeneration
      Title: Investigation of SLA4A3 as a candidate gene for human retinal disease.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic susceptibility to febrile seizures: case-control association studies.
    6. It was concluded that the A867D allele is a functional mutant of AE3 and that the decreased activity of this mutation may cause changes in cell volume and abnormal intracellular pH.
      Title: Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Short QT syndrome 7
    MedGen: C5774304 OMIM: 620231 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables bicarbonate transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables chloride:bicarbonate antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chloride:bicarbonate antiporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables solute:inorganic anion antiporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in bicarbonate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in bicarbonate transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in bicarbonate transport TAS
    Traceable Author Statement
    more info
    		  
    acts_upstream_of_or_within cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pH reduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in external side of plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    anion exchange protein 3
    Names
    Anion exchanger 3, neuronal
    cardiac/brain band 3-like protein
    neuronal band 3-like protein
    solute carrier family 4 (anion exchanger), member 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_050748.2 RefSeqGene

      Range
      5002..19343
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001326559.2 → NP_001313488.2  anion exchange protein 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a longer protein (isoform 2), compared to isoform 1. Variants 2 and 4 both encode the same isoform (2).
      Source sequence(s)
      AC009955, KF459589
      Consensus CDS
      CCDS2446.1
      UniProtKB/TrEMBL
      B4DR53
      Conserved Domains (2) summary
      PHA03307
      Location:2 → 292
      PHA03307; transcriptional regulator ICP4; Provisional
      TIGR00834
      Location:349 → 1258
      ae; anion exchange protein

    2. NM_005070.4 → NP_005061.3  anion exchange protein 3 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC009955, KF459589
      Consensus CDS
      CCDS2445.1
      UniProtKB/Swiss-Prot
      A6H8L2, A8K1Q9, B7ZVX6, B9EGD1, P48751, Q6YIQ9
      UniProtKB/TrEMBL
      B4DR53
      Related
      ENSP00000350756.3, ENST00000358055.8
      Conserved Domains (1) summary
      TIGR00834
      Location:322 → 1231
      ae; anion exchange protein

    3. NM_201574.3 → NP_963868.3  anion exchange protein 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a longer protein (isoform 2), compared to isoform 1. Variants 2 and 4 both encode the same isoform (2).
      Source sequence(s)
      AC009955, KF459589
      Consensus CDS
      CCDS2446.1
      UniProtKB/TrEMBL
      B4DR53
      Related
      ENSP00000273063.6, ENST00000273063.10
      Conserved Domains (2) summary
      PHA03307
      Location:2 → 292
      PHA03307; transcriptional regulator ICP4; Provisional
      TIGR00834
      Location:349 → 1258
      ae; anion exchange protein

    RNA

    1. NR_048551.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC009955, KF459589
      Related
      ENST00000425141.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219627630..219641971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445555.1 → XP_047301511.1  anion exchange protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A6H8L2, A8K1Q9, B7ZVX6, B9EGD1, P48751, Q6YIQ9
      Related
      ENSP00000314006.3, ENST00000317151.7

    2. XM_011511665.3 → XP_011509967.1  anion exchange protein 3 isoform X2

      UniProtKB/TrEMBL
      B4DR53
      Conserved Domains (4) summary
      TIGR00834
      Location:296 → 1205
      ae; anion exchange protein
      pfam00955
      Location:649 → 1135
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:331 → 593
      Band_3_cyto; Band 3 cytoplasmic domain
      pfam15384
      Location:102 → 219
      PAXX; PAXX, PAralog of XRCC4 and XLF, also called C9orf142

    3. XM_047445557.1 → XP_047301513.1  anion exchange protein 3 isoform X4

    4. XM_047445556.1 → XP_047301512.1  anion exchange protein 3 isoform X4

    5. XM_005246790.5 → XP_005246847.1  anion exchange protein 3 isoform X3

      UniProtKB/TrEMBL
      B4DR53
      Conserved Domains (1) summary
      TIGR00834
      Location:124 → 1033
      ae; anion exchange protein

    6. XM_011511667.3 → XP_011509969.1  anion exchange protein 3 isoform X5

      UniProtKB/TrEMBL
      B4DS65
      Conserved Domains (2) summary
      pfam00955
      Location:184 → 670
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:4 → 128
      Band_3_cyto; Band 3 cytoplasmic domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      220112359..220126699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343463.1 → XP_054199438.1  anion exchange protein 3 isoform X1

    2. XM_054343466.1 → XP_054199441.1  anion exchange protein 3 isoform X4

    3. XM_054343464.1 → XP_054199439.1  anion exchange protein 3 isoform X2

    4. XM_054343467.1 → XP_054199442.1  anion exchange protein 3 isoform X4

    5. XM_054343465.1 → XP_054199440.1  anion exchange protein 3 isoform X3

    6. XM_054343468.1 → XP_054199443.1  anion exchange protein 3 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48751.2 GenPept UniProtKB/Swiss-Prot:P48751

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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