Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SLC4A11 contributors: shn - updated : 15-04-2010
HGNC name solute carrier family 4, sodium borate transporter, member 11
HGNC id 16438
Corresponding disease
CDPD1 corneal dystrophy associated with teen-age perceptive deafness
CHED2 congenital hereditary endothelial dystrophy of the cornea 2
FECD4 corneal dystrophy, Fuchs endothelial 4
KTCN9 keratoconus 9
Location 20p13      Physical location : 3.208.063 - 3.219.887
Synonym name
  • bicarbonate transporter related protein 1
  • sodium borate cotransporter 1
  • solute carrier family 4 member 11
  • solute carrier family 4, sodium bicarbonate transporter-like, member 11
  • Synonym symbol(s) BTR1, MGC126418, MGC126419, NABC1, dJ794I6, RP4-794I6.3
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 10.31 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D20S842 - D20S181 - SLC4A11 - D20S193 - D20S473 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 splicing 3110 90 891 mainly in the kidney Parker et al, 2001
    20 splicing 3268 90 918 mainly in the kidney Parker et al, 2001
    20 splicing 3118 90 875 mainly in the kidney Parker et al, 2001
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue   
    Endocrinethyroid   predominantly
    Hearing/Equilibriumearinner  moderately
    Reproductivefemale systemovary   
     male systemtestis  predominantly
    UrinarykidneytubuleHenles loop highly
    Visualeyeanterior segmentcornea   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 14 transmembrane domains and intracellular N and C termini
  • multiple intracellular phosphorylation sites and 2 extracellular N-glycosylation sites
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Slc4a11, Mus musculus
    ortholog to slc4a11, Danio rerio
    Homologene
    FAMILY
  • anion exchanger family
  • solute carrier family 4 of bicarbonate transporters
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • membrane-bound sodium-borate cotransporter, playing an essential role in cell growth and proliferation in cells
  • essential for borate homeostasis (Park et al, 2004)
  • having a key role in the growth and terminal differentiation of neural crest cells during the formation of the endothelium
  • essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph (Groger 2010)
  • major role of SLC4A11 in ion homeostasis and fluid transport across various epithelial barriers (Groger 2010)
  • role for mediating a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (Groger 2010)
  • necessary for cell survival which may explain the pathologic corneal endothelial cell loss in endotheliopathies due to SLC4A11 mutations
  • in corneal endothelium, SLC4A11 displays robust Na&
  • 8314;-coupled OH&
    8315; transport
  • cooperative role of AQP1 and SLC4A11 in mediating trans-endothelial water reabsorption
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHED2 , CDPD1 , FECD4 , KTCN9
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Slc4a11(-/-) mice manifest corneal oedema and distorted endothelial cells, consistent with loss of a water-flux