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

SLC4A8 Gene

protein-coding   GIFtS: 55
GCID: GC12P051807

solute carrier family 4, sodium bicarbonate cotransporter,...
 Explore 4 diseases affiliated with
SLC4A8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC4A8    

Aliases
for SLC4A8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 81 2     Electroneutral Sodium Bicarbonate Exchanger 12
NBC31 2 3 5     KIAA07393
Electroneutral Na(+)-Driven Cl-HCO3 Exchanger2 3     NBC3
K-NBC31     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


Summaries
for SLC4A8 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  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 plasmid: SLC4A8 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

Proteins
for SLC4A8 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q2Y0W8

    • SLC4A8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000405812   ENSP00000315789   ENSP00000442561   ENSP00000448190   ENSP00000448558  
     ENSP00000351483   ENSP00000378325   ENSP00000441520  
    Reactome Protein details: Q2Y0W8
    Human Recombinant Protein Products: 
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    Uscn Proteins for SLC4A8

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    SLC4A8 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC4A8

    Protein Domains /
    Families
    for SLC4A8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC4A8 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011531 HCO3_transpt_C
     IPR003020 HCO3_transpt_euk
     IPR016152 PTrfase/Anion_transptr
     IPR003024 Na/HCO3_transpt
     IPR013769 HCO3_transpt_cyt

    Graphical View of Domain Structure for InterPro Entry Q2Y0W8

    ProtoNet protein and cluster: Q2Y0W8

    2 Blocks protein families:
    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


    Function
    for SLC4A8 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Enzyme regulation: Activity is inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS - an inhibitor of
    several anion channels and transporters)

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    hsa-miR-194* hsa-miR-15a hsa-miR-3921 hsa-miR-4304 hsa-miR-890 hsa-miR-124 hsa-miR-424 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmid: SLC4A8 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005452inorganic anion exchanger activity IEA--
    GO:0008509anion transmembrane transporter activity ----


    SLC4A8 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Slc4a8tm1.1Doel for SLC4A8
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc4a8):
     homeostasis/metabolism  renal/urinary system 

    SLC4A8 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC4A8 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transmembrane transport of small molecules0.50
    2Bicarbonate transporters
    		Bicarbonate transporters1.00
    3Amino acid and oligopeptide SLC transporters
    		Transport of inorganic cations/anions and amino acids/oligopeptides0.52

    Pathway sources
    See GeneCards unified pathways
    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): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport IEA--
    GO:0015701bicarbonate transport TAS--
    GO:0055085transmembrane transport TAS--


    SLC4A8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC4A8 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 

    Transcripts
    for SLC4A8 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000548352 ENST00000453097(uc001ryo.2 uc001rys.1) ENST00000548811
    ENST00000546497 ENST00000319957(uc001ryn.3 uc001ryr.3) ENST00000514353(uc010snk.2)
    ENST00000547697(uc001ryp.1) ENST00000551071(uc001rym.3) ENST00000552001
    ENST00000550211 ENST00000546663 ENST00000548616 ENST00000546872 ENST00000546875(uc001ryt.1)
    ENST00000358657(uc010snj.2) ENST00000394856(uc001ryq.4) ENST00000535225(uc010sni.2)


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    hsa-miR-194* hsa-miR-15a hsa-miR-3921 hsa-miR-4304 hsa-miR-890 hsa-miR-124 hsa-miR-424 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmid: SLC4A8 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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):

    CA306804 AI015013 AF107099 BX096746 AW087720 BP350155 CA842889 BU621793 
    BC025994 AI377345 BX101329 CD516026 BQ888154 CD244470 BG722924 AL831915 
    CA454608 CD653698 AA905367 BG056238 AI005281 NM_004858 BG056290 AL704734 

    GeneLoc Exon Structure


    Expression
    for SLC4A8 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC4A8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal Collecting Duct SystemType B cellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

        SABiosciences Custom PCR Arrays for SLC4A8
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    In Situ
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    Orthologs
    for SLC4A8 gene

    (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 eukaryotes.

    Orthologs for SLC4A8 gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 --
    --
    		 --
    		 71(a)
    66(a)
    		 1 ↔ many
    1 ↔ many
    		 AAWZ02036001(1692-32948)
    2(67896940-67966940)
    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)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G254306
    AT4G325106
    (see all 7)    		 putative boron transporter 7
    (see all 7)    		 21(a)
    21(a)
    (see all 7)    		 possible ortholog
    possible ortholog
    (see all 7)    		 5(8851251-8854259)
    4(15685903-15688811)
    rice
    (Oryza sativa)    		 Liliopsida BOR46
    BOR36
    (see all 3)    		 boron transporter protein, putative, expressed
    (see all 3)    		 20(a)
    20(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 5(4600956-4607390)
    1(3877069-3899085)


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

    Paralogs
    for SLC4A8 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC4A8 gene
    SLC4A42  SLC4A102  SLC4A72  SLC4A12  SLC4A112  SLC4A52  SLC4A22  SLC4A32  
    SLC4A92  
    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    SLC4A2    SLC4A1

    SLC4A8 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC4A8 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1932 NCBI SNPs in SLC4A8 are shown (see all 1932)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1489491471,2
    		C,unknown48896124(+) TTTCTC/G/TTTCCT 15 L syn10--------
    rs118368111,2
    		C,H,--48816378(+) TGCCTG/ACCTTC 2 -- us2k12Minor allele frequency- A:0.15CSA WA 120
    rs1154918231,2
    		C,F,--48818141(+) AAGGCA/GGGAGG 2 -- ut511Minor allele frequency- G:0.07WA 118
    rs556979541,2
    		C,--48818846(+) GCCATG/AANNNN 2 -- int13Minor allele frequency- A:0.09NA WA 240
    rs125807381,2
    		H--48819095(+) ggatcA/Ccaagg 2 -- int10--------
    rs1128858661,2
    		C--48819329(+) AAAAAA/GAAAAA 2 -- int10--------
    rs123710921,2
    		C,H,--48819983(+) cagatG/Acatgc 2 -- int15Minor allele frequency- A:0.01NS EA NA 528
    rs784025341,2
    		C,F,--48820298(+) GGTAGG/TTTTGA 2 -- int11Minor allele frequency- T:0.02WA 118
    rs760638451,2
    		C,F,--48820360(+) AGAGTG/ATGGAG 2 -- int11Minor allele frequency- A:0.05WA 118
    rs794740311,2
    		F,--48820952(+) GCTTCC/TCAAGA 2 -- int11Minor allele frequency- T:0.08WA 118

    HapMap Linkage Disequilibrium report for SLC4A8 (51785101 - 51902980 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for SLC4A8
         4 CNVs: 49083 49080 49082 49081

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    Disorders / Diseases
    for SLC4A8 gene

    (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.)
    About This Section
    SLC4A8 for disorders           About GeneDecksing

    OMIM gene information: 605024    OMIM disorders: --

    4 diseases for SLC4A8:    About MalaCards
    neuronitis    cystic fibrosis    fibrosis    thyroiditis


    Export disorders for SLC4A8 gene to outside databases

    Publications
    for SLC4A8 gene

    (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 22):
    (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. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)

    External Searches for SLC4A8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    OMIM
    NCBI Bookshelf
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    Genome Databases showing SLC4A8 gene

    (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

    Other Databases showing SLC4A8 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0739

    Specialized Databases showing SLC4A8 gene

    (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

    Intellectual Property
    for SLC4A8 gene

    (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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