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    SLC4A2 solute carrier family 4 member 2 [ Homo sapiens (human) ]

    Gene ID: 6522, updated on 7-Jul-2024

    Summary

    Official Symbol
    SLC4A2provided by HGNC
    Official Full Name
    solute carrier family 4 member 2provided by HGNC
    Primary source
    HGNC:HGNC:11028
    See related
    Ensembl:ENSG00000164889 MIM:109280; AllianceGenome:HGNC:11028
    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
    AE2; HKB3; BND3L; NBND3; OPTB9; EPB3L1
    Summary
    This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016]
    Expression
    Ubiquitous expression in placenta (RPKM 16.3), stomach (RPKM 13.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
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    Genomic context

    See SLC4A2 in Genome Data Viewer
    Location:
    7q36.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (151058200..151076527)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (152231288..152249645)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150755287..150773614)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150747130-150747768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150748624-150749202 Neighboring gene acid sensing ion channel subunit 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150750636-150751136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150754255-150754788 Neighboring gene cyclin dependent kinase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150757470-150758377 Neighboring gene uncharacterized LOC128092247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150762350-150763332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150766873-150767373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150772333-150773310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150773311-150774286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150774287-150775262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150776239-150777215 Neighboring gene Fas activated serine/threonine kinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150777216-150778191 Neighboring gene Sharpr-MPRA regulatory region 12172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18796 Neighboring gene transmembrane and ubiquitin like domain containing 1

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ59028

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chloride:bicarbonate antiporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables monoatomic anion transmembrane transporter activity TAS
    Traceable Author Statement
    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 amelogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bicarbonate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in bicarbonate transport TAS
    Traceable Author Statement
    more info
     
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic anion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of CD8-positive, alpha-beta T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of CD8-positive, alpha-beta T cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in osteoclast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of enamel mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of bone resorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in focal adhesion HDA PubMed 
    located_in membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    anion exchange protein 2
    Names
    anion exchanger 2 type a
    anion exchanger 2 type b1
    anion exchanger 2 type b2
    erythrocyte membrane protein band 3-like 1
    non-erythroid band 3-like protein
    solute carrier family 4 (anion exchanger), member 2

    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_051947.1 RefSeqGene

      Range
      6390..23324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199692.3NP_001186621.1  anion exchange protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001186621.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon, and encodes the same isoform (1), as compared to variant 1.
      Source sequence(s)
      AB209158, BM680391, DB065890
      Consensus CDS
      CCDS5917.1
      UniProtKB/Swiss-Prot
      B2R6T0, B4DIT0, D3DX05, F8W682, P04920, Q45EY5, Q969L3
      UniProtKB/TrEMBL
      Q9UEY6
      Related
      ENSP00000419412.1, ENST00000485713.5
      Conserved Domains (3) summary
      TIGR00834
      Location:3241240
      ae; anion exchange protein
      pfam00955
      Location:6751167
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:359620
      Band_3_cyto; Band 3 cytoplasmic domain
    2. NM_001199693.1NP_001186622.1  anion exchange protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons from the 5' end and contains an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a shorter and different N-terminus, as compared to isoform 1.
      Source sequence(s)
      AB209158, AK295767, BM680391
      Consensus CDS
      CCDS56520.1
      UniProtKB/TrEMBL
      Q9UEY5
      Related
      ENSP00000376571.2, ENST00000392826.6
      Conserved Domains (3) summary
      TIGR00834
      Location:3151231
      ae; anion exchange protein
      pfam00955
      Location:6661158
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:350611
      Band_3_cyto; Band 3 cytoplasmic domain
    3. NM_001199694.2NP_001186623.1  anion exchange protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001186623.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two exons from the 5' end and contains an alternate 5' exon, as compared to variant 1. The resulting isoform (3) has a shorter and different N-terminus, as compared to isoform 1.
      Source sequence(s)
      AB209158, BC009386, BM680391, DA237239
      Consensus CDS
      CCDS56521.1
      UniProtKB/TrEMBL
      Q9UEY4
      Related
      ENSP00000419164.1, ENST00000461735.1
      Conserved Domains (3) summary
      TIGR00834
      Location:3101226
      ae; anion exchange protein
      pfam00955
      Location:6611153
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:345606
      Band_3_cyto; Band 3 cytoplasmic domain
    4. NM_003040.4NP_003031.3  anion exchange protein 2 isoform 1

      See identical proteins and their annotated locations for NP_003031.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same isoform (1).
      Source sequence(s)
      AK295767, AK312699, BM680391, DA103528
      Consensus CDS
      CCDS5917.1
      UniProtKB/Swiss-Prot
      B2R6T0, B4DIT0, D3DX05, F8W682, P04920, Q45EY5, Q969L3
      UniProtKB/TrEMBL
      Q9UEY6
      Related
      ENSP00000405600.2, ENST00000413384.7
      Conserved Domains (3) summary
      TIGR00834
      Location:3241240
      ae; anion exchange protein
      pfam00955
      Location:6751167
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:359620
      Band_3_cyto; Band 3 cytoplasmic domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      151058200..151076527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      152231288..152249645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)