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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 SLC4A4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 4 (Sodium Bicarbonate Cotransporter), Member
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 transvestism, and band keratopathy. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   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 Chromatin IP Primers for SLC4A4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: 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
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: 

  • 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
  • Glycosylation2 at Asn641, Asn661
  • Modification sites at PhosphoSitePlus

  • See SLC4A4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Electrogenic sodium bicarbonate cotransporter 1
    Sodium-dependent HCO3- transporters

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

    Graphical View of Domain Structure for InterPro Entry 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


    Find genes that share domains with SLC4A4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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
         
    Find genes that share ontologies with SLC4A4           About GenesLikeMe


    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/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  muscle 
     nervous system  renal/urinary system  skeleton  vision/eye 

    Find genes that share phenotypes with SLC4A4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc4a4tm1Ges for SLC4A4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC4A4
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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
    SwitchGear 3'UTR luciferase reporter plasmidSLC4A4 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S4A4_HUMAN, Q9Y6R1: Basolateral cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol2
    nucleus2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

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

    Find genes that share ontologies with SLC4A4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC4A4 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Bicarbonate transporters0.00
    2Sodium coupled transporters and pumps
    Sodium coupled transporters and pumps
    3Proximal tubule bicarbonate reclamation
    Proximal tubule bicarbonate reclamation
    4Pancreatic secretion
    Pancreatic secretion
    5Glucose / Energy Metabolism
    Glucose / Energy Metabolism


    Find genes that share SuperPaths with SLC4A4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 Reactome Pathway for SLC4A4
        Bicarbonate transporters


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC4A4
    Interactions:

        GeneGlobe Interaction Network for SLC4A4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for SLC4A4 (Q9Y6R11, 3 ENSP000003935574) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    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): Selected biological process terms (see all 7):    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--

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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

    Selected 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)



    Find genes that share compounds with SLC4A4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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 

    Selected AceView cDNA sequences (see all 218):

    AW517985 CD617512 AI167189 AW772453 H15433 BQ925267 Z41977 CA389071 
    AI888997 AI253224 BM354176 T72584 BU952552 AA972396 AW024677 AI261613 
    BX499391 BI964884 AI913005 AF011390 F09548 BU683685 AI002821 BM054957 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC4A4 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             Oligodendrocyte progenitor cells
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Floor Plate Cells Spinal Floor Plate
             Spinal Floor Plate
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Endothelial Cells Corneal Endothelium
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Epithelial Cells
             Proximal Tubule Cells Proximal Tubule
    SLC4A4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC4A4 Protein Expression

    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC4A4 gene from Selected species (see all 21)    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 89.31(n)1
    97.13(a)1
      5 (44.10 cM)5
    544031  NM_018760.21  NP_061230.21 
     888868185 
    chicken
    (Gallus gallus)
    Aves SLC4A41 solute carrier family 4, sodium bicarbonate cotransporter, more 83.4(n)
    92.49(a)
      422649  XM_420603.4  XP_420603.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC4A46
    solute carrier family 4 (sodium bicarbonate cotran...
    92(a)
    1 ↔ 1
    5(147402862-147545608)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc4a41 solute carrier family 4, sodium bicarbonate cotransporter, more 79.49(n)
    89.16(a)
      100490445  XM_004919133.1  XP_004919190.1 
    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)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BOR11 BOR1 42.73(n)
    29.53(a)
      855446   NP_014124.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons BOR41 BOR4 44.59(n)
    30.92(a)
      838116  NM_101415.3  NP_172999.1 


    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)
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    Paralogs for SLC4A4 gene
    SLC4A102  SLC4A72  SLC4A112  SLC4A12  SLC4A52  SLC4A82  SLC4A22  SLC4A92  
    SLC4A32  
    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

    Find genes that share paralogs with SLC4A4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC4A4 (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC4A4
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC4A4

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

  • 11 diseases for SLC4A4:    
    About MalaCards
    transvestism    band keratopathy    proximal renal tubular acidosis with ocular abnormalities    ileus
    meconium ileus    voyeurism    meconium ileus in cystic fibrosis    renal tubular acidosis
    keratopathy    alstrom syndrome    cystic fibrosis

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

    Find genes that share disorders with SLC4A4           About GenesLikeMe

    Selected 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)
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    PubMed articles for SLC4A4 gene, integrated from 10 sources (see all 160):
    (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. (J. Biol. Chem. 1998)
    2. Cloning and functional expression of a human kidney Na+:HCO3- cotransporter. (PubMed id 9235899)1, 2, 3 Burnham C.E.... Soleimani M. (J. Biol. Chem. 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. (Exp. Eye Res. 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. (Biochemistry 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. (J. Biol. Chem. 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. (J. Am. Soc. Nephrol. 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. (Am. J. Physiol. 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. (Acta Physiol. Scand. 2004)
    9. Localization of NBC-1 variants in human kidney and renal cell carcinoma. (PubMed id 14559244)1, 2, 9 Yamada H.... Seki G. (Biochem. Biophys. Res. Commun. 2003)
    10. Molecular mechanism of kNBC1-carbonic anhydrase II interaction in proximal tubule cells. (PubMed id 15218065)1, 2, 9 Pushkin A.... Kurtz I. (J. Physiol. (Lond.) 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8671 HGNC: 11030 AceView: SLC4A4 Ensembl:ENSG00000080493 euGenes: HUgn8671
    ECgene: SLC4A4 Kegg: 8671 H-InvDB: SLC4A4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC4A4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC4A4[genesymbol]

    (Patent information from GeneIP,
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    Patent Information for SLC4A4 gene:
    Search GeneIP for patents involving SLC4A4

    GeneCards and IP:
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