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

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)
About This Section

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     Electroneutral Na/HCO(3) Cotransporter2
Bicarbonate Transporter2 3     Sodium Bicarbonate Cotransporter 32
Sodium Bicarbonate Cotransporter 22 3     BT3
Sodium Bicarbonate Cotransporter 2b2 3     NBC2B3

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Transmembrane transport of small molecules and Amino acid and oligopeptide SLC transporters. GO annotations related to this gene include sodium:bicarbonate symporter activity and inorganic anion exchanger activity. An important paralog of this gene is SLC4A10.

UniProtKB/Swiss-Prot: 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC4A7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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
Subcellular location: 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)
Secondary accessions: A6NIA8 B2CI53 B5M451 B5M452 B5M453 B6DY52 B6DY53 C9JST9 O60350 Q6AHZ9
Q9HC88 Q9UIB9
Alternative splicing: 11 isoforms:  Q9Y6M7-1   Q9Y6M7-2   Q9Y6M7-3   Q9Y6M7-4   Q9Y6M7-5   Q9Y6M7-6   Q9Y6M7-7   Q9Y6M7-8   
Q9Y6M7-9   Q9Y6M7-10   Q9Y6M7-11   (Contains a phosphoserine at position 263. Contains a phosphoserine at position 260)

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

Explore proteomics data for SLC4A7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6M7

  • SLC4A7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC4A7 Protein Expression
    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
    Human Recombinant Protein Products for SLC4A7: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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

    SLC4A7 for ontologies           About GeneDecksing



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

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

    4 InterPro protein domains:
     IPR011531 HCO3_transpt_C
     IPR003020 HCO3_transpt_euk
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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

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    SwitchGear 3'UTR luciferase reporter plasmidSLC4A7 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC4A7 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    2Amino acid and oligopeptide SLC transporters
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    3Bicarbonate transporters
    Bicarbonate transporters

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for SLC4A7
        Bicarbonate transporters
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of inorganic cations/anions and amino acids/oligopeptides



    SLC4A7 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC4A7

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for SLC4A7 (Q9Y6M71, 2, 3 ENSP000002957364) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319461, 2, 3, ENSP000003001614EBI-1044546,EBI-359815 MINT-50961 I2D: score=4 STRING: ENSP00000300161
    CFTRP135693, ENSP000000030844I2D: score=3 STRING: ENSP00000003084
    PRKAA2P546463I2D: score=1 
    SLC4A4ENSP000003935574STRING: ENSP00000393557
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC4A7 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about SLC4A7 / S4A7

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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
    18/20 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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    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 

    24/81 AceView cDNA sequences (see all 81):

    BX098726 H66521 AA476540 BQ215266 BX509853 AA243228 BF109567 AI690834 
    AA968604 BM449952 AW169298 AL389947 CA312304 BM801129 AL599241 H66520 
    AA188932 BE612799 BM982237 BG547384 AL045675 BQ950254 BG546065 BX470762 

    GeneLoc Exon Structure

    5/10 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™, 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

    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 
     5/5 selected tissues (see all 5) fully expand
     
     Intestine (Gastrointestinal Tract)
             small intestine   
     
     Peripheral Nervous System (Nervous System)
             PERIPHERAL NERVOUS SYSTEM   
     
     Breast (Uncategorized)
             breast epithelium   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H7 (WA07)
     
     Epithelium
             breast epithelium   

    See SLC4A7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC4A7

    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC4A7 gene from 8/16 species (see all 16)    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 81.46(n)
    88.49(a)
      420658  XM_418757.3  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 69.22(n)
    79.13(a)
      568872  XM_692231.4  XP_697323.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ndae11 , 3 sodium:bicarbonate cotransporter3
    Na[+]-driven anion exchanger 11
    55(a)3
    56.06(n)1
    55.17(a)1
      27E63
    340051  NM_164743.21  NP_723263.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F52B5.13
    abts-11
    anion exchange protein3
    Protein ABTS-11
    50(a)3
    54.31(n)1
    51.28(a)1
      I(8305353-8315575)3
    1726131  NM_001136304.11  NP_001129776.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G325101 putative boron transporter 7 44.88(n)
    31.12(a)
      829386  NM_119403.6  NP_194977.6 


    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)
    About This Section
    Paralogs for SLC4A7 gene
    SLC4A102  SLC4A42  SLC4A112  SLC4A12  SLC4A52  SLC4A82  SLC4A22  SLC4A92  
    SLC4A32  
    12 SIMAP similar genes for SLC4A7 using alignment to 10 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2358 SNPs in SLC4A7 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603353    OMIM disorders: --

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


    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)
    About This Section

    PubMed articles for SLC4A7 gene, integrated from 9 sources (see all 91):
    (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. (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. (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. (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. (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. (2005)
    6. Mapping of the human NBC3 (SLC4A7) gene to chromosome 3p22. (PubMed id 10198178)1, 3, 9 Pushkin A....Kurtz I. (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. (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. (2010)
    9. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. (PubMed id 19330027)1, 4 Ahmed S....Easton D.F. (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. (2007)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9497 HGNC: 11033 AceView: SLC4A7 Ensembl:ENSG00000033867 euGenes: HUgn9497
    ECgene: SLC4A7 H-InvDB: SLC4A7

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC4A7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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