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FLASH GENE
Symbol SLC4A2 contributors: mct - updated : 30-05-2015
HGNC name solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)
HGNC id 11028
Location 7q36.1      Physical location : 150.756.656 - 150.773.613
Synonym name
  • erythroid anion (CL-/HCO3-) exchange protein AE2
  • solute carrier family 2, member B
  • anion exchanger 2 type b2
  • erythrocyte membrane protein band 3-like 1
  • Synonym symbol(s) AE2, HKB3, BND3L, NBND3, EPB3L1
    DNA
    TYPE functioning gene
    STRUCTURE 18.31 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    text structure
  • GC boxes, sites for binding Sp1 transcription factor
  • presence of several consensus elements such as GATA, LBP-1, E-box, CACC box, and T-antigen motif
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text alternate promoter sequences in the intron2
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 4159 - 1241 liver, kidney Malumbres
    AE2b1
    23 - 4943 - 1241 ubiqitous Totoki
    AE2a
    22 - 3969 - 1232 kidney, liver Malumbres
  • AE2b2
  • proximal promoter highly active with several potential binding motifs for liver-enriched factors, consensus sequence for hepatocyte nuclear factor-1 (HNF1)
  • involved in the biliary secretion of bicarbonate
  • 22 - 4390 - 1227 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     mouthtooth    Homo sapiens
    Endocrinepancreas    
    Hearing/Equilibriumear    
    Nervousbrain    
    Reproductivefemale systemuteruscervix  
    Skin/Tegumentskin    
    Visualeye    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveameloblast Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal cytoplasmic domain of 400700 AAs, anchoring the red blood cell membrane to the cytoskeleton
  • fourteen transmembrane segments protein
  • a central anion-exchange domain that spans the membrane 1214 times
  • intracellular N and C termini
  • a short C-terminal cytoplasmic domain
  • HOMOLOGY
    Homologene
    FAMILY solute carrier family 4, chloride-bicarbonate
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • non erythroid anion exchanger having a inorganic anion exchanger activity
  • is a critical mediator of osteoclast differentiation and function
  • is an electroneutral Cl(-)/HCO(3)(-) exchanger expressed at the basolateral membrane of many epithelia
  • SLC4A2 plays likely a critical, cell-intrinsic role in osteoclast function
  • regulates bone resorption and actin cytoskeleton organization in osteoclasts via the anion exchange-dependent maintenance of pH intracellular (pHi)
  • osteoclast-intrinsic role of SLC4A2 in bone resorption and SLC4A2 mediates cytoskeletal organization in osteoclasts by regulating calpain activity via anion exchange-dependent control of pHi
  • constitutes a novel target to modulate CD8(+) T-cell responses
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component is a component of the basolateral ion transport mechanisms that support anion secretion in the proximal colon
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with ANK3 (key determinant for the variable and cell type-dependent localization of the SLC4A2 protein in the Golgi apparatus)
  • cell & other
    REGULATION
    activated by HNF1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    cause membrane instability, resulting in hereditary spherocytosis and stomatocytosis
    constitutional     --low  
    in the bile ducts and hepatocytes in primary biliary cirrhosis (PBC) livers
    constitutional       loss of function
    during osteoclast differentiation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • osteoclast-targeted deletion in mice of Slc4a2 results in osteopetrosis
  • Mice null for the Ae2 anion exchanger have abnormal enamel