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

    Gene ID: 6508, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001326559.2NP_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:2292
      PHA03307; transcriptional regulator ICP4; Provisional
      TIGR00834
      Location:3491258
      ae; anion exchange protein
    2. NM_005070.4NP_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:3221231
      ae; anion exchange protein
    3. NM_201574.3NP_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:2292
      PHA03307; transcriptional regulator ICP4; Provisional
      TIGR00834
      Location:3491258
      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_047445555.1XP_047301511.1  anion exchange protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A6H8L2, A8K1Q9, B7ZVX6, B9EGD1, P48751, Q6YIQ9
      Related
      ENSP00000314006.3, ENST00000317151.7
    2. XM_011511665.3XP_011509967.1  anion exchange protein 3 isoform X2

      UniProtKB/TrEMBL
      B4DR53
      Conserved Domains (4) summary
      TIGR00834
      Location:2961205
      ae; anion exchange protein
      pfam00955
      Location:6491135
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:331593
      Band_3_cyto; Band 3 cytoplasmic domain
      pfam15384
      Location:102219
      PAXX; PAXX, PAralog of XRCC4 and XLF, also called C9orf142
    3. XM_047445557.1XP_047301513.1  anion exchange protein 3 isoform X4

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

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

      UniProtKB/TrEMBL
      B4DR53
      Conserved Domains (1) summary
      TIGR00834
      Location:1241033
      ae; anion exchange protein
    6. XM_011511667.3XP_011509969.1  anion exchange protein 3 isoform X5

      UniProtKB/TrEMBL
      B4DS65
      Conserved Domains (2) summary
      pfam00955
      Location:184670
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:4128
      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_054343463.1XP_054199438.1  anion exchange protein 3 isoform X1

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

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

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

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

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