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

SLC4A4 Gene

protein-coding   GIFtS: 66
GCID: GC04P072017

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

(Previous names: solute carrier family 4, sodium bicarbonate cotransporter,...)
(Previous symbol: SLC4A5)
  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
41 2
     Electrogenic Sodium Bicarbonate Cotransporter 12
SLC4A51 2 5     hhNMC2
NBC12 3 5     pNBC2
kNBC12 3     Sodium Bicarbonate Cotransporter 1 (Sodium Bicarbonate Cotransporter,
Kidney; Sodium Bicarbonate Cotransporter, Pancreas)2
Na(+)/HCO3(-) Cotransporter2 3     Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 4, Brain
Type2
KNBC2 5     Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 52
Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 41     NBC3
HNBC12     NBCE13
NBC22     Sodium Bicarbonate Cotransporter3
NBCe1-A2     Solute Carrier Family 4 Member 43

External Ids:    HGNC: 110301   Entrez Gene: 86712   Ensembl: ENSG000000804937   OMIM: 6033455   UniProtKB: Q9Y6R13   

Export aliases for SLC4A4 gene to outside databases

Previous GC identifers: GC04P072293 GC04P072453 GC04P072568 GC04P072418 GC04P067858


(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 SLC4A4 Gene:
This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and
absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis.
Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Oct
2008)

GeneCards Summary for SLC4A4 Gene: 
SLC4A4 (solute carrier family 4 (sodium bicarbonate cotransporter), member 4) is a protein-coding gene. Diseases associated with SLC4A4 include proximal renal tubular acidosis with ocular abnormalities, and band keratopathy, 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 sodium:bicarbonate symporter activity and inorganic anion exchanger activity. An important paralog of this gene is SLC4A10.

UniProtKB/Swiss-Prot: S4A4_HUMAN, Q9Y6R1
Function: Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to
1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH

Gene Wiki entry for SLC4A4 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_000004.11  NT_022778.16  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC4A4 gene promoter:
         STAT1   STAT1beta   POU3F2   NF-AT   STAT1alpha   MEF-2A   Egr-2   SRY   Sox9   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC4A4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC4A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC4A4


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

Entrez Gene cytogenetic band: 4q21   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q13.3

SLC4A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC4A4 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P072017:  view genomic region     (about GC identifiers)

Start:
72,053,003 bp from pter      End:
72,437,804 bp from pter
Size:
384,802 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: S4A4_HUMAN, Q9Y6R1 (See protein sequence)
Recommended Name: Electrogenic sodium bicarbonate cotransporter 1  
Size: 1079 amino acids; 121461 Da
Subunit: Interacts with CA2/carbonic anhydrase 2 and CA4/carbonic anhydrase 4 which may regulate transporter
activity
Subcellular location: Basolateral cell membrane; Multi-pass membrane protein
Secondary accessions: C4B714 O15153 Q8NEJ2 Q9H262 Q9NRZ1 Q9UIC0 Q9UIC1 Q9UP50
Alternative splicing: 5 isoforms:  Q9Y6R1-1   Q9Y6R1-2   Q9Y6R1-3   Q9Y6R1-4   Q9Y6R1-5   

Explore the universe of human proteins at neXtProt for SLC4A4: NX_Q9Y6R1

Explore proteomics data for SLC4A4 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation of Ser-1026 by PKA increases the binding of CA2 and changes the Na(+):HCO3(-) stoichiometry of the
    transporter from 3:1 to 2:1. Phosphorylation of Thr-49 regulates isoform 1 conductance
  • UniProtKB: N-glycosylation is not necessary for the transporter basic functions
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6R1

  • SLC4A4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC4A4 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001091954.1  NP_001128214.1  NP_003750.1  

    ENSEMBL proteins: 
     ENSP00000264485   ENSP00000307349   ENSP00000422400   ENSP00000344272   ENSP00000393557  
    Reactome Protein details: Q9Y6R1
    Human Recombinant Protein Products for SLC4A4: 
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    Novus Biologicals SLC4A4 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SLC4A4
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS9235899
    GO:0016020membrane ----
    GO:0016021integral to membrane ----
    GO:0016323basolateral plasma membrane IEA--

    SLC4A4 for ontologies           About GeneDecksing



    SLC4A4 Antibody Products: 
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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: Electrogenic sodium bicarbonate cotransporter 1 
    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 Q9Y6R1

    ProtoNet protein and cluster: Q9Y6R1

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


    UniProtKB/Swiss-Prot: S4A4_HUMAN, Q9Y6R1
    Similarity: Belongs to the anion exchanger (TC 2.A.31) family


    SLC4A4 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: S4A4_HUMAN, Q9Y6R1
    Function: Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to
    1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH
    Enzyme regulation: Inhibited by stilbene derivatives and regulated by cyclic AMP

         Genatlas biochemistry entry for SLC4A4:
    solute carrier family 4,sodium bicarbonate cotransporter member 4,expressed in the basolateral membrane of renal
    proximal tubule cells

         Gene Ontology (GO): 5 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:0005515protein binding IPI14567693
    GO:0008509anion transmembrane transporter activity ----
    GO:0008510sodium:bicarbonate symporter activity TAS9651366
         
    SLC4A4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC4A4:
     Decreased DCP1a protein expres 

         14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc4a4):
     cardiovascular system  craniofacial  digestive/alimentary  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  muscle 
     nervous system  renal/urinary system  skeleton  vision/eye 

    SLC4A4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc4a4tm1Ges for SLC4A4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC4A4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC4A4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC4A4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC4A4 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSLC4A4 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A4


    (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 SLC4A4 About   (see all 8)                                                                                              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
    3Sodium-coupled transporters and pumps
    Sodium-coupled transporters and pumps0.30
    4Proximal tubule bicarbonate reclamation
    Proximal tubule bicarbonate reclamation
    5Pancreatic secretion
    Pancreatic secretion

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SLC4A4
        Sodium-coupled transporters and pumps


    1 Cell Signaling Technology (CST) Pathway for SLC4A4
        Glucose / Energy Metabolism

    4        Reactome Pathways for SLC4A4
        Bicarbonate transporters
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of inorganic cations/anions and amino acids/oligopeptides


    3         Kegg Pathways  (Kegg details for SLC4A4):
        Proximal tubule bicarbonate reclamation
    Pancreatic secretion
    Bile secretion


    SLC4A4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC4A4

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

    5/7 Interacting proteins for SLC4A4 (Q9Y6R13 ENSP000003935574) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SREBF2Q127723, ENSP000003544764I2D: score=3 STRING: ENSP00000354476
    DLG4P783523I2D: score=1 
    YWHABP319463I2D: score=1 
    CA2ENSP000002853794STRING: ENSP00000285379
    CA4ENSP000003009004STRING: ENSP00000300900
    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 TAS9235899
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport ----
    GO:0006820anion transport ----
    GO:0015701bicarbonate transport TAS--

    SLC4A4 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

    SLC4A4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC4A4 (S4A4)

    2 HMDB Compounds for SLC4A4    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 SLC4A4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Sodium bicarbonateBicarbonate of soda (see all 6)144-55-8transportersubstrate15014910 17071329 12847417 12027220

    10/15 Novoseek inferred chemical compound relationships for SLC4A4 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium bicarbonate 88.3 68 9651366 (2), 12710294 (2), 9530281 (2), 10347222 (2) (see all 41)
    bicarbonate 86.1 89 11562789 (5), 12847417 (4), 10099707 (4), 12027220 (3) (see all 45)
    ethoxzolamide 63.4 1 17353189 (1)
    dids 56.3 1 10099707 (1)
    chloride 40 5 19336397 (1), 10777746 (1), 20383337 (1), 15257112 (1) (see all 5)
    bcecf 39 1 12907161 (1)
    acetazolamide 37.8 2 12027220 (1)
    sodium 37.4 13 15329059 (2), 14567693 (2), 16365189 (2), 19336397 (1) (see all 8)
    aspartate 21 3 12411514 (1), 19159951 (1)
    carbachol 19.8 4 12217857 (2), 11292627 (1), 18815229 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC4A4 / S4A4

    (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 SLC4A4 gene (3 alternative transcripts): 
    NM_001098484.2  NM_001134742.1  NM_003759.3  

    Unigene Cluster for SLC4A4:

    Solute carrier family 4, sodium bicarbonate cotransporter, member 4
    Hs.5462  [show with all ESTs]
    Unigene Representative Sequence: NM_001098484
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264485 ENST00000351898 ENST00000514331(uc003hga.2) ENST00000512686(uc003hgb.3)
    ENST00000340595(uc003hgc.4 uc010iid.3) ENST00000425175(uc003hfy.3 uc010iic.3 uc010iib.3 uc003hfz.3)

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    Additional mRNA sequence: 

    AB470072.1 AF004813.1 AF007216.1 AF011390.1 AF053753.1 AF053754.1 AF069510.1 AF157492.1 
    AF310248.1 AK090968.1 AK226164.1 AK307594.1 AK308038.1 BC030977.1 BC127908.1 CR749482.1 
    EF531618.1 

    8 DOTS entries:

    DT.75180455  DT.100823990  DT.95097255  DT.302098  DT.100823989  DT.100823984  DT.91660428  DT.75126932 

    24/218 AceView cDNA sequences (see all 218):

    AA515873 BP341868 AW517985 CD617512 AI167189 AW772453 H15433 BQ925267 
    Z41977 CA389071 AI888997 AI253224 BM354176 T72584 BU952552 AA972396 
    AW024677 AI261613 BX499391 BI964884 AI913005 AF011390 F09548 BU683685 

    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

    SLC4A4 expression in normal human tissues (normalized intensities)      SLC4A4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGAACAAA
    SLC4A4 Expression
    About this image


    SLC4A4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...
             Pancreatic Islet   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Floor Plate Cells Spinal Floor Plate
             Spinal Floor Plate
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   
     
     Kidney (Urinary System)
             Proximal Tubule Cells Proximal Tubule

    See SLC4A4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC4A4

    SOURCE GeneReport for Unigene cluster: Hs.5462

    UniProtKB/Swiss-Prot: S4A4_HUMAN, Q9Y6R1
    Tissue specificity: Isoform 1 is expressed in pancreas and to a lower extent in heart, skeletal muscle, liver,
    parotid salivary glands, prostate, colon, stomach, thyroid, brain and spinal chord. Corneal endothelium cells
    express only isoform 1 (at protein level). Isoform 2 is specifically expressed in kidney at the level of proximal
    tubules

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC4A4 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc4a41 , 5 solute carrier family 4 (anion exchanger), member 41, 5 89.25(n)1
    97.2(a)1
      5 (44.10 cM)5
    544031  NM_001197147.11  NP_001184076.11 
     888868185 
    chicken
    (Gallus gallus)
    Aves SLC4A41 solute carrier family 4, sodium bicarbonate cotransporter, more 83.43(n)
    92.58(a)
      422649  XM_420603.3  XP_420603.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC4A46
    solute carrier family 4, sodium bicarbonate cotran...
    91(a)
    1 ↔ 1
    5(147402862-147545608)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.25062 Transcribed sequence with moderate similarity to protein more 78.09(n)    AI545959.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ndae13 sodium:bicarbonate cotransporter 49(a)   27E6   --
    worm
    (Caenorhabditis elegans)
    Secernentea F52B5.13 anion exchange protein 46(a)   I(8305353-8315575)   --


    ENSEMBL Gene Tree for SLC4A4 (if available)
    TreeFam Gene Tree for SLC4A4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC4A4 gene
    SLC4A102  SLC4A72  SLC4A12  SLC4A112  SLC4A52  SLC4A82  SLC4A22  SLC4A32  
    SLC4A92  
    11 SIMAP similar genes for SLC4A4 using alignment to 2 protein entries:     S4A4_HUMAN (see all proteins):
    DKFZp781H1314    NBC    SLC4A5    SLC4A10    SLC4A8    SLC4A7
    SLC4A9    SLC4A2    SLC4A3    SLC4A1    AE

    SLC4A4 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

    10/7165 SNPs in SLC4A4 are shown (see all 7165)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0247554
    Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)4--see VAR_0247552 A V mis40--------
    VAR_0247534
    Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)4--see VAR_0247532 T S mis40--------
    VAR_0247544
    Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)4--see VAR_0247542 R H mis40--------
    VAR_0247514
    Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)4--see VAR_0247512 R S mis40--------
    VAR_0247564
    Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)4--see VAR_0247562 R C mis40--------
    VAR_0247524
    Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)4--see VAR_0247522 S L mis40--------
    rs1408704931,2
    Cuntested172298562(+) TCAACA/GGTGGC 6 T syn10--------
    rs1497528961,2
    C--67861176(+) CACAC-/AGACACA 2 -- int10--------
    rs14528931,2
    C--67861177(-) TGTGTG/CTGTGT 2 -- int11Minor allele frequency- C:0.50NA 2
    rs113399241,2
    C--67869356(+) GTAAT-/GGTCAT 2 -- int11Minor allele frequency- G:0.00NA 2

    HapMap Linkage Disequilibrium report for SLC4A4 (72053003 - 72303003 bp, first 250kb of SLC4A4)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for SLC4A4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1975599CNV Deletion18987734
    esv2476295CNV Deletion19546169
    esv2669073CNV Deletion23128226
    esv2727799CNV Deletion23290073
    esv269898CNV Insertion20981092
    nsv4383CNV Insertion18451855
    nsv879473CNV Loss21882294
    nsv523289CNV Loss19592680
    nsv4382CNV Loss18451855
    nsv4384CNV Loss18451855


    Human Gene Mutation Database (HGMD): SLC4A4
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603345   
    OMIM disorders: 604278  
    UniProtKB/Swiss-Prot: S4A4_HUMAN, Q9Y6R1
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)
    [MIM:604278]: An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal
    renal tubular acidosis, mental retardation, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a
    failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary
    bicarbonate wasting and subsequent acidemia. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Note=Loss of interaction with and stimulation by CA4 is the cause of retinitis pigmentosa type 17 (RP17)

  • 20/29 diseases for SLC4A4 (see all 29):    About MalaCards
    proximal renal tubular acidosis with ocular abnormalities    band keratopathy    transvestism    metabolic acidosis
    renal tubular acidosis    exhibitionism    alstrom syndrome    keratopathy
    ileus    short stature    fibrous histiocytoma    histiocytoma
    retinitis pigmentosa    temporal lobe epilepsy    glaucoma    cystic fibrosis
    duodenitis    cataract    retinitis    mental retardation

    6 diseases from the University of Copenhagen DISEASES database for SLC4A4:
    Renal tubular acidosis     Band keratopathy     Alstrom syndrome     Voyeurism
    Transvestism     Metabolic acidosis

    SLC4A4 for disorders           About GeneDecksing

    10/13 Novoseek inferred disease relationships for SLC4A4 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proximal renal tubular acidosis 96 16 15930088 (2), 16636648 (2), 12444017 (1), 15085340 (1) (see all 12)
    band keratopathy 72.1 3 11435462 (1), 11592950 (1), 16636648 (1)
    acidosis renal tubular 48.1 1 15713912 (1)
    acidosis 47.1 4 12710294 (1), 12217857 (1), 12388414 (1), 15471865 (1)
    alkalosis 41.2 2 9841505 (1), 10652014 (1)
    glaucoma 38.4 6 11274232 (2), 15471865 (1), 11435462 (1), 11592950 (1) (see all 5)
    metabolic acidosis 36.6 4 9841505 (2), 16785749 (1), 10652014 (1)
    retinitis pigmentosa 33.5 1 15563508 (1)
    mental retardation 28.8 1 11274232 (1)
    short stature 27.9 2 16636648 (2)

    Genetic Association Database (GAD): SLC4A4
    Human Genome Epidemiology (HuGE) Navigator: SLC4A4 (4 documents)

    Export disorders for SLC4A4 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 SLC4A4 gene, integrated from 9 sources (see all 155):
    (articles sorted by number of sources associating them with SLC4A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter. (PubMed id 9651366)1, 2, 3, 9 Abuladze N....Kurtz I. (1998)
    2. Cloning and functional expression of a human kidney Na+:HCO3- cotransporter. (PubMed id 9235899)1, 2, 3 Burnham C.E.... Soleimani M. (1997)
    3. Identification and cloning of the Na/HCO3- cotransporter (NBC) in human corneal endothelium. (PubMed id 12907161)1, 2, 9 Sun X.C. and Bonanno J.A. (2003)
    4. Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter. (PubMed id 14567693)1, 2, 9 Alvarez B.V.... Casey J.R. (2003)
    5. Identification of a carboxyl-terminal motif essential for the targeting of Na+-HCO-3 cotransporter NBC1 to the basolateral membrane. (PubMed id 15273250)1, 2, 9 Li H.C.... Soleimani M. (2004)
    6. Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. (PubMed id 15930088)1, 2, 9 Horita S....Fujita T. (2005)
    7. Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. (PubMed id 15713912)1, 2, 9 Li H.C....Soleimani M. (2005)
    8. Expression of Na+/HCO3- co-transporter proteins (NBCs) in rat and human skeletal muscle. (PubMed id 15329059)1, 2, 9 Kristensen J.M.... Juel C. (2004)
    9. Localization of NBC-1 variants in human kidney and renal cell carcinoma. (PubMed id 14559244)1, 2, 9 Yamada H.... Seki G. (2003)
    10. Molecular mechanism of kNBC1-carbonic anhydrase II interaction in proximal tubule cells. (PubMed id 15218065)1, 2, 9 Pushkin A.... Kurtz I. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8671 HGNC: 11030 AceView: SLC4A4 Ensembl:ENSG00000080493 euGenes: HUgn8671
    ECgene: SLC4A4 Kegg: 8671 H-InvDB: SLC4A4

    (According to HUGE)
    About This Section
      --

    (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 SLC4A4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC4A4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC4A4 gene:
    Search GeneIP for patents involving SLC4A4

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



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