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SLC4A7 Gene

protein-coding   GIFtS: 64
GCID: GC03M027414

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


(Previous symbol: SLC4A6)
  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)
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Aliases
Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 71 2     Solute Carrier Family 4 Member 72 3
SLC4A61 2 3     SBC22 3
NBC22 3 5     NBCN12
NBC32 3 5     Sodium Bicarbonate Cotransporter 32
Bicarbonate Transporter2 3     BT3
Electroneutral Na/HCO(3) Cotransporter2 3     NBC2B3
Sodium Bicarbonate Cotransporter 22 3     NBCn13
Sodium Bicarbonate Cotransporter 2b2 3     

External Ids:    HGNC: 110331   Entrez Gene: 94972   Ensembl: ENSG000000338677   OMIM: 6033535   UniProtKB: Q9Y6M73   

Export aliases for SLC4A7 gene to outside databases

Previous GC identifers: GC03M026863 GC03M027264 GC03M027389 GC03M027357


(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 SLC4A7 Gene:
This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport
sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded
protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory
transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. (provided
by RefSeq, Apr 2012)

GeneCards Summary for SLC4A7 Gene:
SLC4A7 (solute carrier family 4, sodium bicarbonate cotransporter, member 7) is a protein-coding gene. Diseases associated with SLC4A7 include renal tubular acidosis, and usher syndrome. 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: S4A7_HUMAN, Q9Y6M7
Function: Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry.
Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an
associated sodium channel activity

Gene Wiki entry for SLC4A7 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:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC4A7 gene promoter:
         GR   ATF-2   GR-beta   RelA   NF-kappaB   NF-kappaB2   GR-alpha   NF-kappaB1   ATF   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC4A7 promoter sequence
   Search Chromatin IP Primers for SLC4A7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC4A7


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

Entrez Gene cytogenetic band: 3p22   Ensembl cytogenetic band:  3p24.1   HGNC cytogenetic band: 3p24.1

SLC4A7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC4A7 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M027414:  view genomic region     (about GC identifiers)

Start:
27,414,214 bp from pter      End:
27,525,911 bp from pter
Size:
111,698 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: S4A7_HUMAN, Q9Y6M7 (See protein sequence)
Recommended Name: Sodium bicarbonate cotransporter 3  
Size: 1214 amino acids; 136044 Da
Subunit: Interacts with CFTR through SLC9A3R1/EBP50. Interacts with USH1C. Forms a complex with ATP6V1B1 and
SLC9A3R1/EBP50. Interacts in a pH dependent-manner with CA2/carbonic anhydrase 2
Secondary accessions: A6NIA8 B2CI53 B5M449 B5M451 B5M452 B5M453 B6DY52 B6DY53 C9JST9 D3K174
D3K175 O60350 Q6AHZ9 Q9HC88 Q9UIB9
Alternative splicing: 14 isoforms:  Q9Y6M7-1   Q9Y6M7-2   Q9Y6M7-3   Q9Y6M7-4   Q9Y6M7-5   Q9Y6M7-6   Q9Y6M7-7   Q9Y6M7-8   
Q9Y6M7-9   Q9Y6M7-10   Q9Y6M7-11   Q9Y6M7-12   Q9Y6M7-13   Q9Y6M7-14   (Contains a phosphoserine at position 267. Contains a phosphoserine at position 264)

Explore the universe of human proteins at neXtProt for SLC4A7: NX_Q9Y6M7

Explore proteomics data for SLC4A7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys590
  • Glycosylation2 at Asn171, Asn269, Asn398, Asn406, Asn776, Asn786, Asn791, Asn796
  • Modification sites at PhosphoSitePlus

  • See SLC4A7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001245308.1  NP_001245309.1  NP_003606.3  

    ENSEMBL proteins: 
     ENSP00000411031   ENSP00000295736   ENSP00000416368   ENSP00000390394   ENSP00000414797  
     ENSP00000408323   ENSP00000407304   ENSP00000394252   ENSP00000406605   ENSP00000407382  
     ENSP00000406804   ENSP00000409418   ENSP00000388703   ENSP00000395336   ENSP00000373429  
     ENSP00000401949  
    Reactome Protein details: Q9Y6M7

    SLC4A7 Human Recombinant Protein Products:

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    SLC4A7 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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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: Electroneutral sodium bicarbonate cotransporter 1
    Sodium-dependent HCO3- transporters

    4 InterPro protein domains:
     IPR003020 HCO3_transpt_euk
     IPR011531 HCO3_transpt_C
     IPR016152 PTrfase/Anion_transptr
     IPR013769 Band3_cytoplasmic_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y6M7

    ProtoNet protein and cluster: Q9Y6M7

    1 Blocks protein domain: IPB013769 HCO3- transporter

    UniProtKB/Swiss-Prot: S4A7_HUMAN, Q9Y6M7
    Domain: The PDZ-binding motif mediates interaction with the CFTR, SLC9A3R1/EBP50 complex and probably with USH1C
    Similarity: Belongs to the anion exchanger (TC 2.A.31) family


    SLC4A7 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S4A7_HUMAN, Q9Y6M7
    Function: Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry.
    Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an
    associated sodium channel activity
    Enzyme regulation: Transporter activity is regulated by CA2/carbonic anhydrase 2, cAMP and PKA. Insensitive to
    stilbene derivatives. PubMed:10347222 states it is inhibited by 5-(N-ethyl-N-isopropyl)-amiloride (EIPA)
    Biophysicochemical properties: Kinetic parameters: KM=24 mM for external sodium;

         Genatlas biochemistry entry for SLC4A7:
    solute carrier family 4 (chloride-bicarbonate,anion exchange),member 7,expressed uniquely in skeletal muscle,less
    in heart

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005452inorganic anion exchanger activity IEA--
    GO:0008509anion transmembrane transporter activity ----
    GO:0008510sodium:bicarbonate symporter activity NAS10347222
         
    SLC4A7 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Slc4a7):
     cardiovascular system  cellular  hearing/vestibular/ear  homeostasis/metabolism  mortality/aging 
     muscle  nervous system  skeleton  vision/eye 

    SLC4A7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc4a7tm1Krtz for SLC4A7

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC4A7
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC4A7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC4A7

    miRNA
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    miRTarBase miRNAs that target SLC4A7:
    hsa-mir-34a-5p (MIRT025465), hsa-mir-30a-5p (MIRT005132), hsa-mir-25-3p (MIRT050222), hsa-mir-19b-3p (MIRT031193)

    Block miRNA regulation of human, mouse, rat SLC4A7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC4A7 (see all 78):
    hsa-miR-3607-3p hsa-miR-520f hsa-miR-411 hsa-miR-199a-3p hsa-miR-106a hsa-miR-15a hsa-miR-3074-3p hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidSLC4A7 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC4A7

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: SLC4A7 (NM_003615)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A7


    (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
    S4A7_HUMAN, Q9Y6M7: Basolateral cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass
    membrane protein (By similarity). Cell projection, stereocilium (By similarity). Note=Also described at the
    apical cell membrane. Localizes to the stereocilia of cochlear outer hair cells and to the lateral membrane of
    cochlear inner hair cells (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS10347222
    GO:0016323basolateral plasma membrane IEA--
    GO:0016324apical plasma membrane IEA--

    SLC4A7 for ontologies           About GeneDecksing


    (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 SLC4A7 About                                                                                                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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC4A7
        Bicarbonate transporters



    SLC4A7 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC4A7
    Interactions:

        Search GeneGlobe Interaction Network for SLC4A7

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

    Selected Interacting proteins for SLC4A7 (Q9Y6M72, 3 ENSP000002957364) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-50961 I2D: score=4 STRING: ENSP00000300161
    CFTRP135693, ENSP000000030844I2D: score=3 STRING: ENSP00000003084
    PRKAA2P546463I2D: score=1 
    SLC4A4ENSP000003935574STRING: ENSP00000393557
    UBCENSP000003448184STRING: ENSP00000344818
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    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006811ion transport TAS--
    GO:0006820anion transport ----
    GO:0015701bicarbonate transport TAS--
    GO:0021747cochlear nucleus development IEA--

    SLC4A7 for ontologies           About GeneDecksing



    (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 SLC4A7 (S4A7)

    3 HMDB Compounds for SLC4A7    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    Hydrogen carbonateBicarbonate (see all 19)71-52-3--
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC4A7    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Sodium bicarbonateBicarbonate of soda (see all 6)144-55-8transportersubstrate15014910 17071329 12847417 12027220

    8 Novoseek inferred chemical compound relationships for SLC4A7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bicarbonate 84.7 65 10827195 (3), 14578046 (3), 15014910 (2), 17652430 (2) (see all 37)
    sodium bicarbonate 65.9 6 10347222 (2), 9610397 (1), 15014910 (1), 16126812 (1) (see all 5)
    dids 60.6 3 12403779 (1), 11680599 (1)
    eipa 53.8 2 1579890 (1), 12372786 (1)
    chloride 40.1 2 15257112 (1), 15365806 (1)
    sulfate 35.8 1 12440690 (1)
    sodium 21 2 14578046 (1), 15365806 (1)
    hydrogen 0 3 14585264 (1), 18061308 (1), 16356241 (1)



    SLC4A7 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC4A7 gene (3 alternative transcripts): 
    NM_001258379.1  NM_001258380.1  NM_003615.4  

    Unigene Cluster for SLC4A7:

    Solute carrier family 4, sodium bicarbonate cotransporter, member 7
    Hs.250072  [show with all ESTs]
    Unigene Representative Sequence: AF047033
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000419036(uc010hfl.3) ENST00000295736(uc003cdv.3 uc011axb.2 uc011awu.2 uc011aww.2 uc011awx.2 uc021wuo.1 uc011awy.2)
    ENST00000428386(uc003cdw.3 uc021wul.1 uc011awv.2 uc021wum.1 uc003cdu.4 uc021wun.1 uc011awz.2 uc011axa.2)
    ENST00000454389 ENST00000440156 ENST00000457377 ENST00000438530 ENST00000437179
    ENST00000446700 ENST00000455077 ENST00000445684 ENST00000465487 ENST00000437266
    ENST00000428179 ENST00000475120 ENST00000491211 ENST00000428005(uc010hfm.2)
    ENST00000435667
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    Selected qRT-PCR Assays for microRNAs that regulate SLC4A7 (see all 78):
    hsa-miR-3607-3p hsa-miR-520f hsa-miR-411 hsa-miR-199a-3p hsa-miR-106a hsa-miR-15a hsa-miR-3074-3p hsa-miR-30d
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      QuantiFast Probe-based Assays in human, mouse, rat SLC4A7

    Additional mRNA sequence: 

    AF047033.1 AF089726.1 AK309734.1 AK310865.1 AL389947.1 AL833589.1 CR627428.1 EU499349.1 
    EU934246.1 EU934247.1 EU934248.1 EU934249.1 EU934250.1 FJ178574.1 FJ178575.1 FJ178576.1 
    GU354307.1 GU354308.1 GU354309.1 GU354310.1 

    12 DOTS entries:

    DT.308464  DT.97779658  DT.91700297  DT.100696187  DT.100751599  DT.102821320  DT.91641432  DT.120925376 
    DT.96086396  DT.120925448  DT.97763604  DT.99982673 

    Selected AceView cDNA sequences (see all 81):

    BM801129 AL389947 AW169298 CA312304 AL599241 H66520 AI690834 AA968604 
    BM449952 BX098726 H66521 AA476540 BQ215266 BX509853 AA243228 BF109567 
    AI453320 NM_003615 BP346940 AL700247 AI174325 CB155271 BX490946 BM982237 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A7 (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                        -     -                                             
    SP5:                    -                                                                                                                                       

    ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for SLC4A7

    (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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    SLC4A7 expression in normal human tissues (normalized intensities)      SLC4A7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGGAGATTG
    SLC4A7 Expression
    About this image


    SLC4A7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Neural Tube (Nervous System)
             Telencephalon
    SLC4A7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC4A7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.250072

    UniProtKB/Swiss-Prot: S4A7_HUMAN, Q9Y6M7
    Tissue specificity: Highly expressed in testis and spleen. Also expressed in retina, colon, small intestine,
    ovary, thymus, prostate, muscle, heart and kidney. Isoform 1 is expressed in skeletal muscle and heart muscle

        Custom PCR Arrays for SLC4A7
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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 animals.

    Orthologs for SLC4A7 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc4a71 , 5 solute carrier family 4, sodium bicarbonate cotransporter, more1, 5 88.86(n)1
    94.63(a)1
      14 (7.08 cM)5
    2187561  NM_001033270.21  NP_001028442.21 
     147030255 
    chicken
    (Gallus gallus)
    Aves SLC4A71 solute carrier family 4, sodium bicarbonate cotransporter, more 80.85(n)
    87.95(a)
      420658  XM_418757.4  XP_418757.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC4A76
    solute carrier family 4, sodium bicarbonate cotran...
    84(a)
    1 ↔ 1
    1(196340229-196436376)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.187842 Transcribed sequence with weak similarity to protein more 77.12(n)    AL893622.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5688721 sodium bicarbonate cotransporter 3-like 68.05(n)
    77.8(a)
      568872  XM_692231.5  XP_697323.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ndae11 , 3 sodium:bicarbonate cotransporter3
    Na[+]-driven anion exchanger 11
    55(a)3
    56.75(n)1
    57.39(a)1
      27E63
    340051  NM_001273248.11  NP_001260177.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F52B5.13
    abts-11
    anion exchange protein3
    abts-11
    50(a)3
    55.22(n)1
    52.6(a)1
      I(8305353-8315575)3
    1726131  NM_059857.51  NP_492258.11 


    ENSEMBL Gene Tree for SLC4A7 (if available)
    TreeFam Gene Tree for SLC4A7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC4A7 gene
    SLC4A102  SLC4A42  SLC4A112  SLC4A12  SLC4A52  SLC4A82  SLC4A22  SLC4A92  
    SLC4A32  
    12 SIMAP similar genes for SLC4A7 using alignment to 5 protein entries:     S4A7_HUMAN (see all proteins):
    DKFZp781H1314    SLC4A10    SLC4A8    SLC4A4    NBC    SLC4A9
    SLC4A5    AE    AE1    SLC4A2    SLC4A3    SLC4A1

    SLC4A7 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), 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 SLC4A7 (see all 2358)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1912357531,2
    --27352457(+) AGATCA/GGGCCA 3 -- ds50010--------
    rs49737671,2
    --27352480(+) ctgggC/Tgacag 3 -- ds50010--------
    rs1391512761,2
    --27352540(+) AAAAAC/GAAAGA 3 -- ds50010--------
    rs1425156911,2
    C--27352555(+) AAAGCA/CCTGGA 3 -- ds50010--------
    rs1808904741,2
    --27352622(+) GGGGGA/GAATAA 3 -- ds50010--------
    rs23709941,2
    C,F,A,H--27352717(+) TCTCAA/GTGTTT 3 -- ds500116Minor allele frequency- G:0.01NS NA WA CSA EA 878
    rs1172667611,2
    C,F--27352749(+) AAGCCT/CAGGAA 3 -- ds50011Minor allele frequency- C:0.03EA 120
    rs1860463001,2
    --27352837(+) TCTTCC/TAATAA 3 -- ds50010--------
    rs1921200051,2
    --27352960(+) AAATTA/TGAAAG 3 -- ut310--------
    rs1833196371,2
    --27352975(+) GATGAC/TTCACA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for SLC4A7 (27414214 - 27525911 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLC4A7:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725069CNV Deletion23290073
    nsv3742CNV Insertion18451855
    nsv522583CNV Loss19592680
    nsv876646CNV Gain21882294
    nsv876645CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 603353    OMIM disorders: --

    8 diseases for SLC4A7:    About MalaCards
    renal tubular acidosis    usher syndrome    cystic fibrosis    breast cancer
    retinitis    pancreatitis    prostatitis    malaria


    SLC4A7 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for SLC4A7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    genetic disorder 16.1 1 15365806 (1)
    cystic fibrosis 5.56 1 10872421 (1)

    Genetic Association Database (GAD): SLC4A7
    Human Genome Epidemiology (HuGE) Navigator: SLC4A7 (9 documents)

    Export disorders for SLC4A7 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 SLC4A7 gene, integrated from 10 sources (see all 92):
    (articles sorted by number of sources associating them with SLC4A7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a new sodium bicarbonate cotransporter cDNA from human retina. (PubMed id 9610397)1, 2, 3, 9 Ishibashi K.... Marumo F. (Biochem. Biophys. Res. Commun. 1998)
    2. Regulation of the human NBC3 Na+/HCO3- cotransporter by carbonic anhydrase II and PKA. (PubMed id 14736710)1, 2, 9 Loiselle F.B.... Casey J.R. (Am. J. Physiol. 2004)
    3. The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3-cotransport isoform 3. (PubMed id 12403779)1, 2, 9 Park M.... Kurtz I. (J. Biol. Chem. 2002)
    4. Cloning, tissue distribution, genomic organization, and functional characterization of NBC3, a new member of the sodium bicarbonate cotransporter family. (PubMed id 10347222)1, 2, 9 Pushkin A.... Kurtz I. (J. Biol. Chem. 1999)
    5. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. (PubMed id 16301216)1, 2, 9 Reiners J....Wolfrum U. (Hum. Mol. Genet. 2005)
    6. Mapping of the human NBC3 (SLC4A7) gene to chromosome 3p22. (PubMed id 10198178)1, 3, 9 Pushkin A....Kurtz I. (Genomics 1999)
    7. Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists. (PubMed id 20095854)1, 4 Bhatti P....Sigurdson A.J. (Radiat. Res. 2010)
    8. Common genetic variants associated with breast cancer and mammographic density measures that predict disease. (PubMed id 20145138)1, 4 Odefrey F....Southey M.C. (Cancer Res. 2010)
    9. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. (PubMed id 19330027)1, 4 Ahmed S....Easton D.F. (Nat. Genet. 2009)
    10. Variation in a bicarbonate co-transporter gene family member SLC4A7 is associated with propensity to addictions: a study using fine-mapping and three samples. (PubMed id 17624982)1, 4 Ishiguro H....Uhl G.R. (Addiction 2007)

    (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: 9497 HGNC: 11033 AceView: SLC4A7 Ensembl:ENSG00000033867 euGenes: HUgn9497
    ECgene: SLC4A7 H-InvDB: SLC4A7

    (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 SLC4A7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC4A7 gene:
    Search GeneIP for patents involving SLC4A7

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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