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SLC4A5 Gene

protein-coding   GIFtS: 60
GCID: GC02M074443

Solute Carrier Family 4 (Sodium Bicarbonate Cotransporter),...

(Previous names: solute carrier family 4, sodium bicarbonate cotransporter,...)
  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 Bicarbonate Cotransporter), Member
51 2
NBC42 3 5
NBCe22 3
Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 51
Electrogenic Sodium Bicarbonate Cotransporter 42
Solute Carrier Family 4 Member 53

External Ids:    HGNC: 181681   Entrez Gene: 578352   Ensembl: ENSG000001886877   OMIM: 6067575   UniProtKB: Q9BY073   

Export aliases for SLC4A5 gene to outside databases

Previous GC identifers: GC02M074576 GC02M074651 GC02M074397 GC02M074414 GC02M074423 GC02M074351 GC02M074360 GC02M074179


(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 SLC4A5 Gene:
This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate
transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and
electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane
protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the
biological validity of some variants has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC4A5 Gene:
SLC4A5 (solute carrier family 4 (sodium bicarbonate cotransporter), member 5) is a protein-coding gene. Diseases associated with SLC4A5 include proximal renal tubular acidosis with ocular abnormalities, and alstrom syndrome. GO annotations related to this gene include sodium:bicarbonate symporter activity and inorganic anion exchanger activity. An important paralog of this gene is SLC4A10.

UniProtKB/Swiss-Prot: S4A5_HUMAN, Q9BY07
Function: Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a
Na(+):HCO3(-) stoichiometry of 2:1. May have a housekeeping function in regulating the pH of tissues in which it
is expressed. May play a role in mediating Na(+):HCO3(-) cotransport in hepatocytes and intrahepatic
cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH

Gene Wiki entry for SLC4A5 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_000002.12  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC4A5 gene promoter:
         E2F-4   E2F-3a   E2F-5   RREB-1   IRF-1   E2F-2   AP-2gamma   E2F   E2F-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC4A5 promoter sequence
   Search Chromatin IP Primers for SLC4A5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC4A5


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

Entrez Gene cytogenetic band: 2p13   Ensembl cytogenetic band:  2p13.1   HGNC cytogenetic band: 2p13.1

SLC4A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC4A5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M074443:  view genomic region     (about GC identifiers)

Start:
74,443,369 bp from pter      End:
74,570,541 bp from pter
Size:
127,173 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: S4A5_HUMAN, Q9BY07 (See protein sequence)
Recommended Name: Electrogenic sodium bicarbonate cotransporter 4  
Size: 1137 amino acids; 126255 Da
Sequence caution: Sequence=AAG18492.1; Type=Frameshift; Positions=1047; Sequence=AAL50802.1; Type=Frameshift;
Positions=760, 925, 1047; Sequence=EAW99691.1; Type=Frameshift; Positions=1047;
Secondary accessions: Q32MA7 Q59EQ9 Q8WXD3 Q8WXD7 Q96DS7 Q96DS8 Q9HBU5
Alternative splicing: 8 isoforms:  Q9BY07-1   Q9BY07-2   Q9BY07-3   Q9BY07-4   Q9BY07-5   Q9BY07-6   Q9BY07-7   Q9BY07-8   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC4A5: NX_Q9BY07

Explore proteomics data for SLC4A5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC4A5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_067019.3  NP_597812.1  

    ENSEMBL proteins: 
     ENSP00000377587   ENSP00000351513   ENSP00000366859   ENSP00000366861   ENSP00000405678  
     ENSP00000414162   ENSP00000407550   ENSP00000399319   ENSP00000251768   ENSP00000352461  
     ENSP00000350475   ENSP00000395804  
    Reactome Protein details: Q9BY07

    SLC4A5 Human Recombinant Protein Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (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: Electrogenic sodium bicarbonate cotransporter 4
    Sodium-dependent HCO3- transporters

    5 InterPro protein domains:
     IPR003020 HCO3_transpt_euk
     IPR003024 Na/HCO3_transpt
     IPR011531 HCO3_transpt_C
     IPR016152 PTrfase/Anion_transptr
     IPR013769 Band3_cytoplasmic_dom

    Graphical View of Domain Structure for InterPro Entry Q9BY07

    ProtoNet protein and cluster: Q9BY07

    2 Blocks protein domains:
    IPB003024 Na+/HCO3- co-transporter signature
    IPB013769 HCO3- transporter


    UniProtKB/Swiss-Prot: S4A5_HUMAN, Q9BY07
    Similarity: Belongs to the anion exchanger (TC 2.A.31) family


    SLC4A5 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: S4A5_HUMAN, Q9BY07
    Function: Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a
    Na(+):HCO3(-) stoichiometry of 2:1. May have a housekeeping function in regulating the pH of tissues in which it
    is expressed. May play a role in mediating Na(+):HCO3(-) cotransport in hepatocytes and intrahepatic
    cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH
    Enzyme regulation: Activity is inhibited by 4,4'-di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS - an
    inhibitor of several anion channels and transporters)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005452inorganic anion exchanger activity IEA--
    GO:0008509anion transmembrane transporter activity ----
    GO:0008510sodium:bicarbonate symporter activity NAS10978526
         
    SLC4A5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC4A5:
     Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc4a5):
     cardiovascular system  endocrine/exocrine gland  homeostasis/metabolism  nervous system  no phenotypic analysis 
     renal/urinary system 

    SLC4A5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc4a5tm1.1Boet for SLC4A5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC4A5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC4A5
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    miRNA
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    hsa-miR-345 hsa-miR-148b* hsa-miR-3616-5p hsa-miR-3647-5p hsa-miR-183* hsa-miR-141* hsa-miR-593* hsa-miR-573
    SwitchGear 3'UTR luciferase reporter plasmidSLC4A5 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A5


    (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
    S4A5_HUMAN, Q9BY07: Apical cell membrane; Multi-pass membrane protein. Note=Expressed in the apical plasma
    membrane domain of a subset of collecting ducts in the renal medulla
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS10978526
    GO:0016324apical plasma membrane IEA--

    SLC4A5 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 SLC4A5 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Bicarbonate transporters0.00
    2Bile secretion
    Bile secretion

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC4A5
        Bicarbonate transporters


    1 Kegg Pathway  (Kegg details for SLC4A5):
        Bile secretion


    SLC4A5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC4A5
    Interactions:

        Search GeneGlobe Interaction Network for SLC4A5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for SLC4A5 (Q9BY072 ENSP000003504754) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGO2Q9UKV82, ENSP000002205924MINT-6489355 STRING: ENSP00000220592
    ATP5C1P365422MINT-6489355
    CMSS1Q9BQ752MINT-6489355
    COPAP536212MINT-6489355
    DDOSTP396562MINT-6489355
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006811ion transport TAS--
    GO:0006820anion transport ----
    GO:0015701bicarbonate transport TAS--
    GO:0035725sodium ion transmembrane transport NAS10978526

    SLC4A5 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 SLC4A5 (S4A5)

    2 HMDB Compounds for SLC4A5    About this table
    CompoundSynonyms CAS #PubMed Ids
    Hydrogen carbonateBicarbonate (see all 19)71-52-3--
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC4A5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Sodium bicarbonateBicarbonate of soda (see all 6)144-55-8transportersubstrate15014910 17071329 12847417 12027220

    2 Novoseek inferred chemical compound relationships for SLC4A5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium bicarbonate 68.7 5 11087115 (2), 10978526 (2), 15014910 (1)
    bicarbonate 64.7 2 15014910 (2)



    SLC4A5 for compounds           About GeneDecksing



    (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 SLC4A5 gene (4 alternative transcripts): 
    NM_021196.3  NM_133478.2  NM_033323.2  NM_133479.1  

    Unigene Cluster for SLC4A5:

    Solute carrier family 4, sodium bicarbonate cotransporter, member 5
    Hs.594099  [show with all ESTs]
    Unigene Representative Sequence: NM_133478
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483195 ENST00000394019(uc002skn.3) ENST00000480696 ENST00000358683
    ENST00000377632 ENST00000377634 ENST00000425249 ENST00000479776 ENST00000432728
    ENST00000444570 ENST00000436454 ENST00000346834(uc010ffc.1) ENST00000359484(uc002skp.1)
    ENST00000357822(uc002sko.1) ENST00000423644
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    hsa-miR-345 hsa-miR-148b* hsa-miR-3616-5p hsa-miR-3647-5p hsa-miR-183* hsa-miR-141* hsa-miR-593* hsa-miR-573
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      QuantiFast Probe-based Assays in human, mouse, rat SLC4A5

    Additional mRNA sequence: 

    AF243499.2 AF293337.2 AF293338.2 AF452248.1 AF453528.1 BC109221.2 

    9 DOTS entries:

    DT.109844  DT.95165633  DT.120983579  DT.97803493  DT.120983680  DT.92460179  DT.86838840  DT.95200978 
    DT.100775606 

    Selected AceView cDNA sequences (see all 565):

    BQ224535 BM975938 AJ711231 BQ687187 BX647972 BQ675217 BG754898 BX486904 
    BQ448670 AF207661 BF922046 BE794017 BU190495 BQ061461 BM914228 BU844435 
    R85075 H25366 BM698150 AL707502 BQ059025 AA351248 BM669955 BQ026773 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A5 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                    -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   

    ExUns: 22 ^ 23a · 23b · 23c ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32
    SP1:                          -                                                               
    SP2:                          -                                                               
    SP3:                                                                                          
    SP4:                                                                                          
    SP5:  -     -                                                                                 


    ECgene alternative splicing isoforms for SLC4A5

    (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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    SLC4A5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTAAGTCA
    SLC4A5 Expression
    About this image


    SLC4A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Choroid Plexus
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    SLC4A5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC4A5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.594099

    UniProtKB/Swiss-Prot: S4A5_HUMAN, Q9BY07
    Tissue specificity: Highest expression observed in liver, spleen and testis; moderate expression in the choroid
    plexus, hippocampus, cerebrum and cerebellum of brain, and in kidney cortex and kidney medulla. Also observed in
    heart, pancreas, muscle, lung, placenta, stomach and small intestine. Weakest expression seen in peripheral blood
    lymphocytes, colon, duodenum, jejunum, ileum and skeletal muscle

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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.

    Orthologs for SLC4A5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc4a51 , 5 solute carrier family 4, sodium bicarbonate cotransporter, more1, 5 88.44(n)1
    92.99(a)1
      6 (35.94 cM)5
    2321561  NM_001166067.11  NP_001159539.11 
     832198285 
    chicken
    (Gallus gallus)
    Aves SLC4A56
    solute carrier family 4 (sodium bicarbonate cotran...
    77(a)
    1 ↔ 1
    22(2840728-2865827) ENSGALG00000013515
    lizard
    (Anolis carolinensis)
    Reptilia SLC4A56
    solute carrier family 4 (sodium bicarbonate cotran...
    72(a)
    1 ↔ 1
    GL343968.1(111086-120823)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc4a51 solute carrier family 4, sodium bicarbonate cotransporter, more 71.9(n)
    78.37(a)
      100494100  XM_002932972.2  XP_002933018.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-48m9.11 si:ch211-48m9.1 71.08(n)
    75.62(a)
      559268  XM_682596.6  XP_687688.6 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ndae13 sodium:bicarbonate cotransporter 44(a)   27E6   --
    worm
    (Caenorhabditis elegans)
    Secernentea F52B5.13 anion exchange protein 42(a)   I(8305353-8315575)   --


    ENSEMBL Gene Tree for SLC4A5 (if available)
    TreeFam Gene Tree for SLC4A5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC4A5 gene
    SLC4A102  SLC4A72  SLC4A42  SLC4A112  SLC4A12  SLC4A82  SLC4A22  SLC4A92  
    SLC4A32  
    12 SIMAP similar genes for SLC4A5 using alignment to 10 protein entries:     S4A5_HUMAN (see all proteins):
    DKFZp781H1314    SLC4A4    NBC    SLC4A10    SLC4A8    SLC4A3
    SLC4A7    SLC4A9    SLC4A1    SLC4A2    AE    AE1

    SLC4A5 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 SLC4A5 (see all 2589)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1113929731,2
    Cuntested174350742(+) CTAGGG/AAGAAC 4 /S /F mis11Minor allele frequency- A:0.50CSA 2
    rs1512849371,2
    C--74253999(+) GAAGT-/GAGAGAG 2 -- int10--------
    rs1396359511,2
    C--74292965(+) CATCT-/CAAA  
            
    CAAAC
    1 -- int10--------
    rs1907115491,2
    --74314117(+) ACAGGA/TGCATG 1 -- ds50010--------
    rs1482256671,2
    C--74314147(+) TTTGTA/GTTTTT 1 -- ds50010--------
    rs1834838441,2
    --74314171(+) TTTCAC/G/TCACAT 1 -- ds50010--------
    rs1411268371,2
    --74314248(+) GATTAC/TAGGCG 1 -- ds50010--------
    rs1868468161,2
    --74314284(+) ACAGTC/TTTATA 1 -- ds50010--------
    rs101995601,2
    C,F,H--74314288(+) TCTTAT/CATCAC 1 -- ds500125Minor allele frequency- C:0.12NS EA NA CSA WA 2906
    rs1473551001,2
    --74314361(+) TGTTTG/TGGCTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC4A5 (74443369 - 74570541 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC4A5 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720212CNV Deletion23290073
    esv2720211CNV Deletion23290073
    esv2466904CNV Deletion19546169
    esv2123407CNV Deletion18987734
    esv4660CNV Deletion18987735
    esv2660222CNV Deletion23128226
    esv2720210CNV Deletion23290073
    nsv2783CNV Loss18451855
    nsv834261CNV Loss17160897
    dgv636n67CNV Loss20364138

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606757    OMIM disorders: --

    5 diseases for SLC4A5:    
    About MalaCards
    proximal renal tubular acidosis with ocular abnormalities    alstrom syndrome    renal tubular acidosis    smallpox
    choroiditis


    SLC4A5 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SLC4A5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alstrom syndrome 89.4 2 11087115 (1), 10978526 (1)

    Genetic Association Database (GAD): SLC4A5
    Human Genome Epidemiology (HuGE) Navigator: SLC4A5 (9 documents)

    Export disorders for SLC4A5 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 SLC4A5 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with SLC4A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family. (PubMed id 10978526)1, 2, 3, 9 Pushkin A.... Kurtz I. (Biochim. Biophys. Acta 2000)
    2. Two C-terminal variants of NBC4, a new member of the sodium bicarbonate cotransporter family: cloning, characterization, and localization. (PubMed id 11087115)1, 2, 3, 9 Pushkin A.... Kurtz I. (IUBMB Life 2000)
    3. Expression of the Na+-HCO-3 cotransporter NBC4 in rat kidney and characterization of a novel NBC4 variant. (PubMed id 12388414)1, 2, 9 Xu J.... Soleimani M. (Am. J. Physiol. 2003)
    4. Functional characterization of NBC4: a new electrogenic sodium- bicarbonate cotransporter. (PubMed id 11788353)1, 2, 9 Sassani P.... Kurtz I. (Am. J. Physiol. 2002)
    5. Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study. (PubMed id 19384345)1, 4 StA1tz A.M....Rankinen T. (Eur. J. Hum. Genet. 2009)
    6. Genetic and environmental risks for high blood pressure among African American mothers and daughters. (PubMed id 19487301)1, 4 Taylor J.Y....Wu C.Y. (Biol Res Nurs 2009)
    7. Sodium bicarbonate cotransporter polymorphisms are associated with baseline and 10-year follow-up blood pressures. (PubMed id 16365189)1, 4 Hunt S.C....Hopkins P.N. (Hypertension 2006)
    8. Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and p150(Glued). (PubMed id 12063394)1, 2 Pushkin A.... Kurtz I. (Cytogenet. Cell Genet. 2001)
    9. Molecular mechanisms of electrogenic sodium bicarbonate cotransport: structural and equilibrium thermodynamic considerations. (PubMed id 15014910)7, 9 Kurtz I....Tatishchev S. (J. Membr. Biol. 2004)
    10. Na+:HCO3- cotransporters (NBC): expression and regulation in the kidney. (PubMed id 12027220)7, 9 Soleimani M. (J. Nephrol. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 57835 HGNC: 18168 AceView: DCTN1andSLC4A5 Ensembl:ENSG00000188687 euGenes: HUgn57835
    ECgene: SLC4A5 Kegg: 57835 H-InvDB: SLC4A5

    (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 SLC4A5 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 SLC4A5 gene:
    Search GeneIP for patents involving SLC4A5

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



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