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SLC4A11 Gene

protein-coding   GIFtS: 58
GCID: GC20M003203

Solute Carrier Family 4, Sodium Borate Transporter, Member...

(Previous names: corneal endothelial dystrophy 2 (autosomal recessive), solute...)
(Previous symbols: CHED2, CDPD1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 4, Sodium Borate Transporter, Member 111 2     dJ794I6.22
CHED21 2 5     Sodium Bicarbonate Transporter-Like Protein 112
BTR12 3 5     Sodium-Coupled Borate Cotransporter 12
CDPD11 2     NaBC13
Solute Carrier Family 4, Sodium Bicarbonate Transporter-Like, Member 111 2     Bicarbonate Transporter-Related Protein 13
NABC12 5     Sodium Borate Cotransporter 13
Corneal Dystrophy And Perceptive Deafness 11     Solute Carrier Family 4 Member 113
Corneal Endothelial Dystrophy 2 (Autosomal Recessive)1     CDPD5
Bicarbonate Transporter Related Protein 12     FECD45

External Ids:    HGNC: 164381   Entrez Gene: 839592   Ensembl: ENSG000000888367   OMIM: 6102065   UniProtKB: Q8NBS33   

Export aliases for SLC4A11 gene to outside databases

Previous GC identifers: GC20M003196 GC20M003156


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC4A11 Gene:
This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for
borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number
of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and
perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different
isoforms have been described. (provided by RefSeq, Mar 2010)

GeneCards Summary for SLC4A11 Gene:
SLC4A11 (solute carrier family 4, sodium borate transporter, member 11) is a protein-coding gene. Diseases associated with SLC4A11 include corneal endothelial dystrophy and perceptive deafness, and corneal dystrophy, fuchs endothelial, 4. GO annotations related to this gene include sodium channel activity and protein dimerization activity. An important paralog of this gene is SLC4A10.

UniProtKB/Swiss-Prot: S4A11_HUMAN, Q8NBS3
Function: Transporter which plays an important role in sodium-mediated fluid transport in different organs.
Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the
stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria
vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium
concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux
into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (By
similarity). Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+))
channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter

Gene Wiki entry for SLC4A11 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011387.9  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC4A11 gene promoter:
         c-Fos   p53   GCNF   MyoD   XBP-1   GCNF-1   FOXJ2 (long isoform)   SEF-1 (1)   FOXJ2   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC4A11 promoter sequence
   Search Chromatin IP Primers for SLC4A11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC4A11


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

SLC4A11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC4A11 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M003203:  view genomic region     (about GC identifiers)

Start:
3,208,063 bp from pter      End:
3,219,887 bp from pter
Size:
11,825 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S4A11_HUMAN, Q8NBS3 (See protein sequence)
Recommended Name: Sodium bicarbonate transporter-like protein 11  
Size: 891 amino acids; 99581 Da
Subunit: Homodimer
Sequence caution: Sequence=BAC11536.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAB90170.4; Type=Erroneous gene model prediction; Sequence=CAD55942.1; Type=Erroneous gene model
prediction;
Secondary accessions: B4DKX9 G3V1M3 Q2TB62 Q2TB63 Q9BXF4 Q9NTW9
Alternative splicing: 3 isoforms:  Q8NBS3-1   Q8NBS3-2   Q8NBS3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC4A11: NX_Q8NBS3

Explore proteomics data for SLC4A11 at MOPED

Post-translational modifications: 

  • Glycosylated1
  • Glycosylation2 at Asn545, Asn553
  • Modification sites at PhosphoSitePlus

  • See SLC4A11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001167560.1  NP_001167561.1  NP_114423.1  

    ENSEMBL proteins: 
     ENSP00000369396   ENSP00000369399   ENSP00000476859   ENSP00000441370   ENSP00000404271  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: NaBC1
    Sodium-dependent HCO3- transporters

    4 InterPro protein domains:
     IPR002178 PTS_EIIA_type-2_dom
     IPR003020 HCO3_transpt_euk
     IPR011531 HCO3_transpt_C
     IPR016152 PTrfase/Anion_transptr

    Graphical View of Domain Structure for InterPro Entry Q8NBS3

    ProtoNet protein and cluster: Q8NBS3

    UniProtKB/Swiss-Prot: S4A11_HUMAN, Q8NBS3
    Similarity: Belongs to the anion exchanger (TC 2.A.31) family


    SLC4A11 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S4A11_HUMAN, Q8NBS3
    Function: Transporter which plays an important role in sodium-mediated fluid transport in different organs.
    Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the
    stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria
    vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium
    concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux
    into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (By
    similarity). Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+))
    channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005272sodium channel activity IDA15525507
    GO:0005452inorganic anion exchanger activity IEA--
    GO:0008509anion transmembrane transporter activity ----
    GO:0015106bicarbonate transmembrane transporter activity IDA15525507
         
    SLC4A11 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Slc4a11):
     hearing/vestibular/ear  homeostasis/metabolism  renal/urinary system  skeleton  vision/eye 

    SLC4A11 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc4a11tm1.1Jrcy for SLC4A11

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    SwitchGear 3'UTR luciferase reporter plasmidSLC4A11 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A11


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S4A11_HUMAN, Q8NBS3: Cell membrane. Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--
    GO:0016323basolateral plasma membrane TAS15525507

    SLC4A11 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC4A11 About    
    See pathways by source

    SuperPathContained pathways About
    1Sodium coupled transporters and pumps
    Sodium coupled transporters and pumps



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC4A11
    Interactions:

        GeneGlobe Interaction Network for SLC4A11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for SLC4A11 (ENSP000003693964) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCAS1ENSP000003792904STRING: ENSP00000379290
    RUVBL2ENSP000002214134STRING: ENSP00000221413
    FKBP1AENSP000003711384STRING: ENSP00000371138
    FKBP1BENSP000003703734STRING: ENSP00000370373
    FKBP1CENSP000003596934STRING: ENSP00000359693
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006814sodium ion transport IDA15525507
    GO:0006820anion transport ----
    GO:0015701bicarbonate transport IDA15525507
    GO:0015992proton transport IDA15525507

    SLC4A11 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC4A11 (S4A11)

    1 HMDB Compound for SLC4A11    About this table
    CompoundSynonyms CAS #PubMed Ids
    BoronB (see all 3)7440-42-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC4A11 gene (3 alternative transcripts): 
    NM_001174089.1  NM_001174090.1  NM_032034.3  

    Unigene Cluster for SLC4A11:

    Solute carrier family 4, sodium borate transporter, member 11
    Hs.105607  [show with all ESTs]
    Unigene Representative Sequence: NM_001174090
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380056(uc002wig.3) ENST00000380059(uc010zqe.2) ENST00000474451(uc002wih.3)
    ENST00000539553(uc010zqf.2) ENST00000488544 ENST00000470631 ENST00000437836

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    hsa-miR-374a* hsa-miR-466 hsa-miR-130b* hsa-miR-3941 hsa-miR-874
    SwitchGear 3'UTR luciferase reporter plasmidSLC4A11 3' UTR sequence
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    Additional mRNA sequence: 

    AF336127.1 AK075303.1 AK091157.1 AK296508.1 AK296760.1 BC110540.1 

    8 DOTS entries:

    DT.102836296  DT.403667  DT.100677098  DT.75143176  DT.97835503  DT.120825703  DT.92045031  DT.40131008 

    Selected AceView cDNA sequences (see all 45):

    BM854790 AW009943 AF336127 AK075303 NM_032034 BM702068 AW088579 CB305941 
    CK430233 AL557116 CK431147 CD633529 CD633549 AK091157 BG769528 AI659089 
    BM666654 CD723953 CD633533 CD723687 AX746815 CD633550 AI343244 BM754928 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A11 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c · 16d ^ 17 ^ 18a · 18b ^ 19a · 19b ^
    SP1:        -     -                                                                                         -     -                                             
    SP2:                                                                                                        -                                                   
    SP3:                                                                                                                                                            
    SP4:              -                                                                                                                                             
    SP5:                                                                                                                                                            

    ExUns: 20 ^ 21 ^ 22a · 22b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for SLC4A11

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC4A11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGACTCAG
    SLC4A11 Expression
    About this image


    SLC4A11 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Eye (Sensory Organs)
             Mature Endothelial Cells Corneal Endothelium
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Corneal Endothelium
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    SLC4A11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC4A11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.105607

    UniProtKB/Swiss-Prot: S4A11_HUMAN, Q8NBS3
    Tissue specificity: Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and
    corneal endothelium. Not detected in retina and lymphocytes

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC4A11 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc4a111 , 5 solute carrier family 4, sodium bicarbonate transporter-like, more1, 5 84.87(n)1
    86.79(a)1
      2 (63.24 cM)5
    2693561  NM_001081162.11  NP_001074631.11 
     1306841135 
    chicken
    (Gallus gallus)
    Aves SLC4A111 solute carrier family 4, sodium borate transporter, more 69.95(n)
    77.11(a)
      422943  XM_004936285.1  XP_004936342.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC4A116
    solute carrier family 4, sodium borate transporter...
    62(a)
    1 ↔ 1
    GL343301.1(1354966-1433299)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ039327.12   -- 79.91(n)    BJ039327.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc4a111 solute carrier family 4, sodium borate transporter, more 65.9(n)
    62.85(a)
      559346  NM_001159828.1  NP_001153300.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F52D10.13
    abts-31
    anion exchange protein3
    abts-31
    29(a)3
    49.06(n)1
    44.3(a)1
      X(11620906-11624884)3
    1740241  NM_001038244.21  NP_001033333.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BOR16
    Boron efflux transporter of the plasma membrane; b...
    21(a)
    1 → many
    XIV(119268-120998) YNL275W


    ENSEMBL Gene Tree for SLC4A11 (if available)
    TreeFam Gene Tree for SLC4A11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC4A11 gene
    SLC4A102  SLC4A72  SLC4A42  SLC4A12  SLC4A52  SLC4A82  SLC4A22  SLC4A92  
    SLC4A32  

    SLC4A11 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC4A11 (see all 629)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1439651851,2,,4
    C,FCorneal dystrophy, Fuchs endothelial, 4 (FECD4)4 --3153103(+) GTGTCC/TGTTCT 6 R G mis12Minor allele frequency- T:0.00NA EU 5835
    VAR_0649784
    Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)4--see VAR_0649782 R W mis40--------
    VAR_0349464
    Corneal dystrophy and perceptive deafness (CDPD)4--see VAR_0349462 S P mis40--------
    VAR_0637134
    Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)4--see VAR_0637132 R H mis40--------
    VAR_0644234
    Corneal dystrophy, Fuchs endothelial, 4 (FECD4)4--see VAR_0644232 R P mis40--------
    VAR_0672724
    Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)4--see VAR_0672722 E K mis40--------
    VAR_0637154
    Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)4--see VAR_0637152 C R mis40--------
    VAR_0478124
    Corneal dystrophy, Fuchs endothelial, 4 (FECD4)4--see VAR_0478122 G E mis40--------
    VAR_0349504
    Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)4--see VAR_0349502 T M mis40--------
    VAR_0644284
    Corneal dystrophy, Fuchs endothelial, 4 (FECD4)4--see VAR_0644282 G S mis40--------

    HapMap Linkage Disequilibrium report for SLC4A11 (3208063 - 3219887 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLC4A11:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4520n71CNV Loss21882294
    nsv912604CNV Loss21882294
    dgv4519n71CNV Loss21882294
    nsv528355CNV Loss19592680
    nsv833898CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): SLC4A11
    Locus Specific Mutation Databases (LSDB): SLC4A11

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC4A11
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC4A11

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610206   
    OMIM disorders: 217700  217400  613268  
    UniProtKB/Swiss-Prot: S4A11_HUMAN, Q8NBS3
  • Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]: An ocular disease characterized by the
    association of corneal clouding with progressive perceptive hearing loss. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Corneal dystrophy, endothelial 2, autosomal recessive (CHED2) [MIM:217700]: A congenital corneal
    dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and
    secretion of an abnormal collagenous layer at the Descemet membrane. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]: A corneal disease caused by loss of
    endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet
    membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is
    thickened by abnormal collagenous deposition. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 17 diseases for SLC4A11:    
    About MalaCards
    corneal endothelial dystrophy and perceptive deafness    corneal dystrophy, fuchs endothelial, 4    corneal dystrophy and perceptive deafness    corneal endothelial dystrophy type 2
    corneal endothelial dystrophy 2, autosomal recessive    corneal dystrophy    corneal dystrophy, fuchs endothelial, 6    corneal dystrophy fuchs endothelial 1
    posterior polymorphous corneal dystrophy    corneal edema    endotheliitis    keratoconus
    tonsillitis    thyroiditis    multiple myeloma    myeloma
    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for SLC4A11:
    Corneal dystrophy     Corneal edema

    SLC4A11 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC4A11
    Human Genome Epidemiology (HuGE) Navigator: SLC4A11 (1 document)

    Export disorders for SLC4A11 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC4A11 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with SLC4A11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney. (PubMed id 11302728)1, 2, 3, 9 Parker M.D.... Tanner M.J.A. (Biochem. Biophys. Res. Commun. 2001)
    2. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). (PubMed id 16767101)1, 2, 3 Vithana E.N.... Aung T. (Nat. Genet. 2006)
    3. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. (PubMed id 17679935)1, 2, 9 Sultana A.... Kannabiran C. (Mol. Vis. 2007)
    4. Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. (PubMed id 19369245)1, 2, 9 Aldahmesh M.A.... Alkuraya F.S. (Invest. Ophthalmol. Vis. Sci. 2009)
    5. Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations. (PubMed id 22072594)1, 2 Vilas G.L....Casey J. (Hum. Mutat. 2012)
    6. Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort. (PubMed id 21203343)1, 2 Paliwal P.... Vajpayee R.B. (Mol. Vis. 2010)
    7. Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. (PubMed id 20144242)1, 4 Hemadevi B....Sundaresan P. (BMC Ophthalmol 2010)
    8. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya. (PubMed id 20848555)1, 2 Riazuddin S.A....Katsanis N. (Hum. Mutat. 2010)
    9. Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy. (PubMed id 18474783)1, 2 Hemadevi B.... Sundaresan P. (Arch. Ophthalmol. 2008)
    10. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. (PubMed id 18024964)1, 2 Vithana E.N.... Aung T. (Hum. Mol. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 83959 HGNC: 16438 AceView: SLC4A11 Ensembl:ENSG00000088836 euGenes: HUgn83959
    ECgene: SLC4A11 H-InvDB: SLC4A11

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC4A11 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC4A11 gene:
    Search GeneIP for patents involving SLC4A11

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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