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

SLC4A4 Gene

protein-coding   GIFtS: 63
GCID: GC04P072017

solute carrier family 4, sodium bicarbonate cotransporter,...


(Previous symbol: SLC4A5)
 Explore 29 diseases affiliated with
SLC4A4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC4A4    

Aliases
for SLC4A4 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 41 2     KNBC2 5
NBC11 2 3 5     Electrogenic Sodium Bicarbonate Cotransporter 12
SLC4A51 2 5     Sodium Bicarbonate Cotransporter 1 (Sodium Bicarbonate Cotransporter, Kidney;
Sodium Bicarbonate Cotransporter, Pancreas)2
HNBC11 2     Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 4, Brain Type2
NBC21 2     Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 52
HhNMC1     NBC3
PNBC1     NBCE13
KNBC11     Sodium Bicarbonate Cotransporter3
Na(+)/HCO3(-) Cotransporter2 3     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


Summaries
for SLC4A4 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 SLC4A4:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_022778.16  
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 plasmid: SLC4A4 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

Proteins
for SLC4A4 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: 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

Post-translational modifications:

  • 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 conductance1
  • N-glycosylation is not necessary for the transporter basic functions1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y6R1

    • SLC4A4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Uscn Proteins for SLC4A4

    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:0005887integral to plasma membrane TAS9235899
    GO:0016323basolateral plasma membrane IEA--


    SLC4A4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC4A4

    Protein Domains /
    Families
    for SLC4A4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC4A4 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 Q9Y6R1

    ProtoNet protein and cluster: Q9Y6R1

    2 Blocks protein families:
    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


    Function
    for SLC4A4 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: 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

    miRNA
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    8/126 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC4A4 (see all 126):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-4254 hsa-miR-376b hsa-miR-300 hsa-miR-106a hsa-miR-15a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmid: SLC4A4 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005452inorganic anion exchanger activity IEA--
    GO:0005515protein binding IPI15563508
    GO:0008510sodium:bicarbonate symporter activity TAS9651366


    SLC4A4 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC4A4:
     Decreased DCP1a protein expres 

    Animal Models:
         Mouse knock-out Slc4a4tm1Ges for SLC4A4
         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


    Pathways & Interactions
    for SLC4A4 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 - 5/8 super-pathways (see all 8) 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
    2Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    3Bicarbonate transporters
    		Bicarbonate transporters1.00
    4Sodium-coupled transporters and pumps
    		Sodium-coupled transporters and pumps1.00
    5Pancreatic secretion
    		Pancreatic secretion1.00

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9235899
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport ----
    GO:0015701bicarbonate transport TAS--
    GO:0055085transmembrane transport TAS--


    SLC4A4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC4A4 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

    SLC4A4 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC4A4

    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 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 

    Transcripts
    for SLC4A4 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 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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    hsa-miR-579 hsa-miR-3607-3p hsa-miR-4254 hsa-miR-376b hsa-miR-300 hsa-miR-106a hsa-miR-15a hsa-miR-93
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    Inhib. RNA
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    Additional cDNA 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):

    F09548 BQ027144 BF939737 CD676770 BU952623 AF157492 BX497736 F01498 
    BX498047 BU683685 AI002821 AF011390 BM054957 AW024677 AI913005 BI964884 
    BX499391 BU952552 AI261613 AA972396 T72584 AI888997 AI253224 BM354176 

    GeneLoc Exon Structure


    Expression
    for SLC4A4 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

    SLC4A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGGAACAAA

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

    SLC4A4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyProximal TubuleProximal Tubule CellsKidney
    BrainBlood Brain BarrierPostnatal Endothelial CellsBlood Brain Barrier, Endothelium
    HeartEndocardiumEndocardial Tube CellsEndocardium
    Spinal CordSpinal Floor PlateFloor Plate Cells Neural Ectoderm
    AdiposeInterscapular Brown Adipose DepotAdipose
    AdiposeThoracic Perivascular AdiposeAdipose
    BrainMedulla OblongataBrain
    Spinal CordSpinal Floor PlateSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

    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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    In Situ
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A4

    Orthologs
    for SLC4A4 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 SLC4A4 gene from 7/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 86(a)
    		 1 ↔ 1
    		 5(147460154-147542776)
    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)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G325106
    ATBOR46
    (see all 7)    		 boron transporter 4
    (see all 7)    		 22(a)
    21(a)
    (see all 7)    		 possible ortholog
    possible ortholog
    (see all 7)    		 4(15685903-15688811)
    1(5310001-5314094)
    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 SLC4A4 (if available)
    TreeFam Gene Tree for SLC4A4 (if available) 

    Paralogs
    for SLC4A4 gene

    (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



    Genomic Variants
    for SLC4A4 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SLC4A4
         1 CNV: 98750
    Human Gene Mutation Database (HGMD): SLC4A4
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SLC4A4 gene

    (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.)
    About This Section
    SLC4A4 for disorders           About GeneDecksing

    OMIM gene information: 603345   
    OMIM disorders: 604278  
    UniProtKB/Swiss-Prot: S4A4_HUMAN, Q9Y6R1
  • Defects in SLC4A4 are the cause of proximal renal tubular acidosis with ocular abnormalities (pRTA-OA)
    • [MIM:604278]; also known as renal tubular acidosis II. Caused by an impairment of bicarbonate absorption in the
    proximal tubule, proximal renal tubular acidosis (pRTA) is characterized by a decreased renal HCO3(-) threshold.
    pRTA-OA is an extremely rare autosomal recessive syndrome characterized by short stature, profound pRTA, mental
    retardation, bilateral glaucoma, cataracts and bandkeratopathy
  • 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
    renal tubular acidosis    proximal renal tubular acidosis with ocular abnormalities    band keratopathy    fibrous histiocytoma
    short stature    temporal lobe epilepsy    malignant fibrous histiocytoma    keratopathy
    transvestism    retinitis pigmentosa    exhibitionism    alstrom syndrome
    histiocytoma    cystic fibrosis    glaucoma    ileus
    renal cell carcinoma    fibrosis    retinitis    duodenitis

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

    10/13 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: SLC4A4 (4 documents)

    Export disorders for SLC4A4 gene to outside databases

    Publications
    for SLC4A4 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 SLC4A4 gene, integrated from 9 sources (see all 147):
    (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)

    External Searches for SLC4A4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing SLC4A4 gene

    (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

    Other Databases showing SLC4A4 gene

    (According to HUGE)
    About This Section
    		   --

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

    Intellectual Property
    for SLC4A4 gene

    (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:
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