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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC4A8 Gene

protein-coding   GIFtS: 57
GCID: GC12P051807

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)
About This Section

Aliases
Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 81 2     Electroneutral Sodium Bicarbonate Exchanger 12
NBC32 3 5     KIAA07393
Electroneutral Na(+)-Driven Cl-HCO3 Exchanger2 3     NBC3
k-NBC32 3     NDCBE13
NDCBE2     Solute Carrier Family 4 Member 83

External Ids:    HGNC: 110341   Entrez Gene: 94982   Ensembl: ENSG000000504387   OMIM: 6050245   UniProtKB: Q2Y0W83   

Export aliases for SLC4A8 gene to outside databases

Previous GC identifers: GC12P051941 GC12P051501 GC12P050071 GC12P048851


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC4A8 Gene:
The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions
across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this
protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Apr 2012)

GeneCards Summary for SLC4A8 Gene: 
SLC4A8 (solute carrier family 4, sodium bicarbonate cotransporter, member 8) is a protein-coding gene. Diseases associated with SLC4A8 include cystic fibrosis, and neuronitis, and among its related super-pathways are Transmembrane transport of small molecules and Amino acid and oligopeptide SLC transporters. GO annotations related to this gene include inorganic anion exchanger activity. An important paralog of this gene is SLC4A10.

UniProtKB/Swiss-Prot: S4A8_HUMAN, Q2Y0W8
Function: Mediates electroneutral sodium- and carbonate-dependent chloride-HCO3(-) exchange with a Na(+):HCO3(-)
stoichiometry of 2:1. Plays a major role in pH regulation in neurons. May be involved in cell pH regulation by
transporting HCO3(-) from blood to cell. Enhanced expression in severe acid stress could be important for cell
survival by mediating the influx of HCO3(-) into the cells. Also mediates lithium-dependent HCO3(-) cotransport.
May be regulated by osmolarity

Gene Wiki entry for SLC4A8 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC4A8 gene promoter:
         AREB6   C/EBPbeta   AML1a   E2F   E2F-1   Hand1   Nkx2-5   NF-kappaB1   Gfi-1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC4A8 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC4A8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC4A8


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

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

SLC4A8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC4A8 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P051807:  view genomic region     (about GC identifiers)

Start:
51,785,101 bp from pter      End:
51,902,980 bp from pter
Size:
117,880 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: S4A8_HUMAN, Q2Y0W8 (See protein sequence)
Recommended Name: Electroneutral sodium bicarbonate exchanger 1  
Size: 1093 amino acids; 122938 Da
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAA34459.1; Type=Erroneous initiation; Sequence=CAD38576.2; Type=Erroneous initiation;
Secondary accessions: A0MMZ1 O94843 O95233 Q004B4 Q8N3U2 Q8TC60 Q9UKX8
Alternative splicing: 7 isoforms:  Q2Y0W8-1   Q2Y0W8-2   Q2Y0W8-3   Q2Y0W8-4   Q2Y0W8-5   Q2Y0W8-6   Q2Y0W8-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC4A8: NX_Q2Y0W8

Explore proteomics data for SLC4A8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q2Y0W8

  • SLC4A8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC4A8 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001035049.1  NP_001245330.1  NP_001245331.1  NP_001245332.1  NP_001254544.1  

    ENSEMBL proteins: 
     ENSP00000441520   ENSP00000405812   ENSP00000442561   ENSP00000351483   ENSP00000378325  
    Reactome Protein details: Q2Y0W8
    Human Recombinant Protein Products for SLC4A8: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    SLC4A8 for ontologies           About GeneDecksing



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

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

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

    Graphical View of Domain Structure for InterPro Entry Q2Y0W8

    ProtoNet protein and cluster: Q2Y0W8

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


    UniProtKB/Swiss-Prot: S4A8_HUMAN, Q2Y0W8
    Similarity: Belongs to the anion exchanger (TC 2.A.31) family


    SLC4A8 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S4A8_HUMAN, Q2Y0W8
    Function: Mediates electroneutral sodium- and carbonate-dependent chloride-HCO3(-) exchange with a Na(+):HCO3(-)
    stoichiometry of 2:1. Plays a major role in pH regulation in neurons. May be involved in cell pH regulation by
    transporting HCO3(-) from blood to cell. Enhanced expression in severe acid stress could be important for cell
    survival by mediating the influx of HCO3(-) into the cells. Also mediates lithium-dependent HCO3(-) cotransport.
    May be regulated by osmolarity
    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005452inorganic anion exchanger activity IEA--
    GO:0008509anion transmembrane transporter activity ----
         
    SLC4A8 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc4a8):
     homeostasis/metabolism  renal/urinary system 

    SLC4A8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc4a8tm1.1Doel for SLC4A8

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC4A8 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC4A8 
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    SwitchGear 3'UTR luciferase reporter plasmidSLC4A8 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC4A8 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    2Amino acid and oligopeptide SLC transporters
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    3Bicarbonate transporters
    Bicarbonate transporters

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for SLC4A8
        Bicarbonate transporters
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of inorganic cations/anions and amino acids/oligopeptides



    SLC4A8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC4A8

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for SLC4A8 (Q2Y0W83 ENSP000004058124) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CA2P009183, ENSP000002853794I2D: score=3 STRING: ENSP00000285379
    SLC9A3R1O147453, ENSP000002626134I2D: score=3 STRING: ENSP00000262613
    CFTRP135693, ENSP000000030844I2D: score=2 STRING: ENSP00000003084
    GNB2L1P632443I2D: score=1 
    JUNP054123I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport IEA--
    GO:0006820anion transport ----
    GO:0015701bicarbonate transport TAS--

    SLC4A8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC4A8 (S4A8)

    1 HMDB Compound for SLC4A8    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC4A8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Sodium bicarbonateBicarbonate of soda (see all 6)144-55-8transportersubstrate15014910 17071329 12847417 12027220

    Search CenterWatch for drugs/clinical trials and news about SLC4A8 / S4A8

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC4A8 gene (6 alternative transcripts): 
    NM_001039960.2  NM_001258401.2  NM_001258402.1  NM_001258403.1  NM_001267615.1  NM_004858.2  

    Unigene Cluster for SLC4A8:

    Solute carrier family 4, sodium bicarbonate cotransporter, member 8
    Hs.4749  [show with all ESTs]
    Unigene Representative Sequence: NM_001039960
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000535225(uc010sni.2) ENST00000604314 ENST00000547697(uc001ryp.1)
    ENST00000548352 ENST00000453097(uc001ryo.2 uc001rys.1) ENST00000548811
    ENST00000546497 ENST00000319957(uc001ryn.3 uc001ryr.3) ENST00000514353(uc010snk.2)
    ENST00000551071(uc001rym.3) ENST00000552001 ENST00000550211 ENST00000546663
    ENST00000548616 ENST00000546872 ENST00000546875(uc001ryt.1) ENST00000358657(uc010snj.2)
    ENST00000394856(uc001ryq.4)
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    Additional mRNA sequence: 

    AB018282.1 AF107099.1 AK056222.1 AK093005.1 AK093357.1 AK124576.1 AK295315.1 AK299545.1 
    AK310017.1 AL137310.1 AL831915.1 BC025994.1 DQ063579.2 DQ975204.1 EU599580.1 EU637925.1 
    NR_047672.1 

    19 DOTS entries:

    DT.213152  DT.424008  DT.91693508  DT.121176464  DT.91752607  DT.75104161  DT.100748901  DT.75138046 
    DT.95134600  DT.97808143  DT.100752395  DT.40128411  DT.121110853  DT.121176488  DT.75158196  DT.91742430 
    DT.91940544  DT.91978255  DT.101966657 

    24/47 AceView cDNA sequences (see all 47):

    AI015013 CA306804 BQ888154 BC025994 CA842889 BX101329 AW087720 AF107099 
    CD244470 BX096746 BU621793 AI377345 BP350155 CD516026 BU570545 BG056290 
    CD358854 AL704734 AI423850 CD653698 NM_004858 CD243563 BX507518 AI150065 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC4A8 expression in normal human tissues (normalized intensities)      SLC4A8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC4A8 Expression
    About this image


    SLC4A8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             ganglion/cranial/facial VII   
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             sensory organ/nose/nasal cavity   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Type B cells Renal Collecting Duct System
             Metanephros
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Eye (Sensory Organs)
             Retina

    See SLC4A8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC4A8

    SOURCE GeneReport for Unigene cluster: Hs.4749

    UniProtKB/Swiss-Prot: S4A8_HUMAN, Q2Y0W8
    Tissue specificity: Expressed in the pyramidal cells of the hippocampus (at protein level). Highly expressed in
    all major regions of the brain, spinal column and in testis, and moderate levels in trachea, thyroid and medulla
    region of kidney. Low expression levels observed in pancreas and kidney cortex

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A8

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC4A8 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc4a81 , 5 solute carrier family 4 (anion exchanger), member 81, 5 87.91(n)1
    96.41(a)1
      15 (56.39 cM)5
    590331  NM_021530.21  NP_067505.21 
     1007617475 
    chicken
    (Gallus gallus)
    Aves LOC4254411 electroneutral sodium bicarbonate exchanger 1-like 75.34(n)
    80.49(a)
      425441  XM_423203.3  XP_423203.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    70(a)
    66(a)
    1 ↔ many
    1 ↔ many
    AAWZ02036001(1511-32971)
    2(67849692-67966940)
    zebrafish
    (Danio rerio)
    Actinopterygii slc4a81 solute carrier family 4, sodium bicarbonate cotransporter, more 70.8(n)
    78.53(a)
      557494  XM_680574.4  XP_685666.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ndae13 sodium:bicarbonate cotransporter 54(a)   27E6   --
    worm
    (Caenorhabditis elegans)
    Secernentea F52B5.13 anion exchange protein 49(a)
    (best of 2)
      I(8305353-8315575)   --


    ENSEMBL Gene Tree for SLC4A8 (if available)
    TreeFam Gene Tree for SLC4A8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC4A8 gene
    SLC4A102  SLC4A72  SLC4A42  SLC4A112  SLC4A12  SLC4A52  SLC4A22  SLC4A92  
    SLC4A32  
    18/20 SIMAP similar genes for SLC4A8 using alignment to 3 protein entries:     S4A8_HUMAN (see all proteins) (see all similar genes):
    HMGA2    SLC4A10    FAM175A    ZNF564    AURA2    DKFZp781H1314
    FP1523    HKR1    SLC4A7    AE1    SLC4A4    TBC1D22A
    NBC    SLC4A5    PTPLA    SLC4A3    SLC4A1    SLC4A2

    SLC4A8 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2311 SNPs in SLC4A8 are shown (see all 2311)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1489491471,2
    Cuntested151697140(+) TTTCTC/G/TTTCCT 10 L syn10--------
    rs339805861,2
    C--48823236(+) AAAAA-/TTCAAA 2 -- int10--------
    rs116101281,2
    C,H--48827509(+) ACATAC/TATACA 2 -- int10--------
    rs1512761201,2
    C--48837714(+) ATCTG-/TTTTTTTT 2 -- int10--------
    rs352794341,2
    C--48839642(+) TTTTTT/-AAGGA 2 -- int11Minor allele frequency- -:0.50NA 2
    rs285826511,2
    --48893378(+) TGTGTG/ATATGT 5 -- int11Minor allele frequency- A:0.50CSA 2
    rs568686581,2
    C--48900445(+) AAAAACAAA/-  
            
    AACAA
    5 -- int11Minor allele frequency- -:0.00NA 2
    rs1457041501,2
    C--48913809(+) GAAAC-/ATAGATT 2 -- int10--------
    rs32151691,2
    C--48935087(-) GTATC-/CTCAAG 2 -- ut310--------
    rs1888398441,2
    --51616825(+) TATTAC/GTGCTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC4A8 (51785101 - 51902980 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLC4A8:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1700899CNV Insertion17803354
    nsv705CNV Insertion18451855
    nsv513361CNV Insertion21212237
    nsv519438CNV Gain19592680
    nsv832408CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605024    OMIM disorders: --

    3 diseases for SLC4A8:    About MalaCards
    cystic fibrosis    neuronitis    thyroiditis


    SLC4A8 for disorders           About GeneDecksing


    Export disorders for SLC4A8 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)
    About This Section

    PubMed articles for SLC4A8 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with SLC4A8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, characterization, and chromosomal mapping of a human electroneutral Na(+)-driven Cl-HCO3 exchanger. (PubMed id 11133997)1, 2, 3, 9 Grichtchenko I.I....Boron W.F. (2001)
    2. Na+:HCO3- cotransporters (NBC): expression and regulation in the kidney. (PubMed id 12027220)1, 7 Soleimani M. (2002)
    3. Characterization of Na+/HCO-3 cotransporter isoform NBC-3. (PubMed id 10362779)1, 2 Amlal H.... Soleimani M. (1999)
    4. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2 Nagase T.... Ohara O. (1998)
    5. Cloning and characterization of novel human SLC4A8 gene products encoding Na+-driven Cl-/HCO3(-) exchanger variants NDCBE-A, -C, and -D. (PubMed id 18577713)1, 9 Parker M.D....Boron W.F. (2008)
    6. Molecular expression of SLC4-derived Na+-dependent anion transporters in selected human tissues. (PubMed id 17715183)2, 9 Damkier H.H.... Praetorius J. (2007)
    7. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. (PubMed id 23535033)1 Sherva R....Green R.C. (2013)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9498 HGNC: 11034 AceView: SLC4A8 Ensembl:ENSG00000050438 euGenes: HUgn9498
    ECgene: SLC4A8 H-InvDB: SLC4A8

    (According to HUGE)
    About This Section
    HUGE: KIAA0739

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC4A8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC4A8 gene:
    Search GeneIP for patents involving SLC4A8

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



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