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SLC4A2 Gene

protein-coding   GIFtS: 66
GCID: GC07P150754

Solute Carrier Family 4 (Anion Exchanger), Member 2

(Previous names: erythrocyte membrane protein band 3-like 1, solute carrier...)
(Previous symbols: EPB3L1, AE2)
  See SLC4A2-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 (Anion Exchanger), Member 21 2     BND3L2 3
AE21 2 3 5     HKB32 3
EPB3L11 2 3 5     AE 22 3
Erythrocyte Membrane Protein Band 3-Like 11 2     Solute Carrier Family 4, Anion Exchanger, Member 2 (Erythrocyte Membrane
Protein Band 3-Like 1)1
Anion Exchanger 2 Type A1 2     NBND32
Anion Exchanger 2 Type B11 2     Anion Exchange Protein 22
Anion Exchanger 2 Type B21 2     MPB3L3
Non-Erythroid Band 3-Like Protein2 3     Anion Exchanger 23
Solute Carrier Family 4 Member 22 3     

External Ids:    HGNC: 110281   Entrez Gene: 65222   Ensembl: ENSG000001648897   OMIM: 1092805   UniProtKB: P049203   

Export aliases for SLC4A2 gene to outside databases

Previous GC identifers: GC07P149003 GC07P150072 GC07P150148 GC07P150194 GC07P150387 GC07P144569


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SLC4A2 Gene:
SLC4A2 (solute carrier family 4 (anion exchanger), member 2) is a protein-coding gene. Diseases associated with SLC4A2 include hereditary elliptocytosis, and primary biliary cirrhosis. GO annotations related to this gene include anion transmembrane transporter activity and inorganic anion exchanger activity. An important paralog of this gene is SLC4A10.

UniProtKB/Swiss-Prot: B3A2_HUMAN, P04920
Function: Plasma membrane anion exchange protein of wide distribution

Gene Wiki entry for SLC4A2 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_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC4A2 gene promoter:
         E2F-4   E2F-3a   E2F-5   p53   p300   E2F-2   E2F   E2F-1   HOXA5   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 8): SLC4A2 promoter sequence
   Search Chromatin IP Primers for SLC4A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC4A2


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

Entrez Gene cytogenetic band: 7q36.1   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q36.1

SLC4A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC4A2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P150754:  view genomic region     (about GC identifiers)

Start:
150,754,297 bp from pter      End:
150,773,614 bp from pter
Size:
19,318 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 150,084,838-150,103,154     

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: B3A2_HUMAN, P04920 (See protein sequence)
Recommended Name: Anion exchange protein 2  
Size: 1241 amino acids; 137009 Da
Secondary accessions: B2R6T0 B4DIT0 D3DX05 F8W682 Q45EY5 Q969L3
Alternative splicing: 3 isoforms:  P04920-1   P04920-2   P04920-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC4A2: NX_P04920

Explore proteomics data for SLC4A2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys658
  • Glycosylation2 at Asn859, Asn868, Asn882
  • Modification sites at PhosphoSitePlus

  • See SLC4A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001186621.1  NP_001186622.1  NP_001186623.1  NP_003031.3  

    ENSEMBL proteins: 
     ENSP00000417808   ENSP00000419412   ENSP00000405600   ENSP00000418114   ENSP00000419379  
     ENSP00000418584   ENSP00000417221   ENSP00000376571   ENSP00000419164   ENSP00000311402  
    Reactome Protein details: P04920

    SLC4A2 Human Recombinant Protein Products:

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    Novus Biologicals SLC4A2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SLC4A2 

     
    antibodies-online proteins for SLC4A2 (2 products) 

     
    Search antibodies-online for peptides for SLC4A2

    SLC4A2 Antibody Products:

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    antibodies-online antibodies for SLC4A2 (12 products) 

    SLC4A2 Assay Products:

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    Search eBioscience for ELISAs for SLC4A2 
    antibodies-online kits for SLC4A2 (10 products) 


    (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: Anion exchange protein 2
    Anion exchangers

    Selected InterPro protein domains (see all 7):
     IPR001717 Anion_exchange
     IPR003020 HCO3_transpt_euk
     IPR002978 Anion_exchange_2
     IPR011531 HCO3_transpt_C
     IPR016152 PTrfase/Anion_transptr

    Graphical View of Domain Structure for InterPro Entry P04920

    ProtoNet protein and cluster: P04920

    3 Blocks protein domains:
    IPB001717 Anion exchange protein
    IPB002978 Anion exchanger isoform 2 signature
    IPB013769 HCO3- transporter


    UniProtKB/Swiss-Prot: B3A2_HUMAN, P04920
    Similarity: Belongs to the anion exchanger (TC 2.A.31) family


    Find genes that share domains with SLC4A2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: B3A2_HUMAN, P04920
    Function: Plasma membrane anion exchange protein of wide distribution

         Genatlas biochemistry entry for SLC4A2:
    solute carrier family 4 (chloride-bicarbonate,anion exchange),member 2

         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 TAS3015590
    GO:0015108chloride transmembrane transporter activity IEA--
         
    Find genes that share ontologies with SLC4A2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC4A2:
     Small cells 

         14 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Slc4a2):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  normal  reproductive system  skeleton 

    Find genes that share phenotypes with SLC4A2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SLC4A2: Slc4a2tm1Jmed Slc4a2tm1Ges

       genOway: Develop your customized and physiologically relevant rodent model for SLC4A2

    miRNA
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    miRTarBase miRNAs that target SLC4A2:
    hsa-mir-92a-3p (MIRT049380), hsa-mir-484 (MIRT042083), hsa-mir-615-3p (MIRT040471), hsa-mir-16-5p (MIRT051300), hsa-mir-455-3p (MIRT037902)

    Block miRNA regulation of human, mouse, rat SLC4A2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SLC4A2:
    hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidSLC4A2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 4): SLC4A2 (NM_001199694)
    Browse Sino Biological Human cDNA Clones
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    Cell Line
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    ESI BIO PureStem Progenitor for SLC4A2: 
    PureStem ES-210, Ecto-ntu Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A2


    (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
    B3A2_HUMAN, P04920: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane TAS3015590
    GO:0016021integral component of membrane IEA--
    GO:0016323basolateral plasma membrane IEA--

    Find genes that share ontologies with SLC4A2           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 SLC4A2 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
    2Salivary secretion
    Salivary secretion0.34
    Gastric acid secretion0.34
    3Selected targets of HNF1
    Selected targets of HNF1
    4Selected targets of GCR alpha
    Selected targets of GCR alpha
    5Pancreatic secretion
    Pancreatic secretion


    Find genes that share SuperPaths with SLC4A2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC4A2
        Bicarbonate transporters


    4 Kegg Pathways  (Kegg details for SLC4A2):
        Salivary secretion
    Gastric acid secretion
    Pancreatic secretion
    Bile secretion

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC4A2
    Interactions:

        GeneGlobe Interaction Network for SLC4A2

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

    Selected Interacting proteins for SLC4A2 (P049203 ENSP000003114024) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CA2P009183, ENSP000002853794I2D: score=2 STRING: ENSP00000285379
    EPB42P164523, ENSP000003002154I2D: score=1 STRING: ENSP00000300215
    LIN54Q6MZP73, ENSP000003419474I2D: score=1 STRING: ENSP00000341947
    SLC26A7ENSP000003095044STRING: ENSP00000309504
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006811ion transport TAS--
    GO:0006820anion transport TAS3015590
    GO:0006821chloride transport ----
    GO:0015701bicarbonate transport TAS--

    Find genes that share ontologies with SLC4A2           About GenesLikeMe



    (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 SLC4A2 (B3A2)

    Selected Novoseek inferred chemical compound relationships for SLC4A2 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bicarbonate 80 28 12791678 (3), 8188169 (2), 19157624 (1), 9587054 (1) (see all 19)
    dids 78.8 4 16911539 (1), 20180022 (1), 17018029 (1)
    stilbene 55.4 4 8458871 (1), 12791678 (1), 7744759 (1)
    chloride 53.9 6 8188169 (1), 11248201 (1), 11006093 (1), 14673180 (1) (see all 5)
    calmidazolium 52.1 3 12529246 (2)
    amiloride 48.4 1 7840148 (1)
    ammonium 31.7 5 9142848 (2), 12027221 (1)
    sulfate 28.3 8 7499397 (2), 7744759 (2), 10452823 (1)
    arsenite 25.7 8 16911539 (3), 17018029 (3)
    glyceraldehyde 3-phosphate 20.2 2 10362722 (1), 11875273 (1)



    Find genes that share compounds with SLC4A2           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 SLC4A2 gene (4 alternative transcripts): 
    NM_001199692.1  NM_001199693.1  NM_001199694.1  NM_003040.3  

    Unigene Cluster for SLC4A2:

    Solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)
    Hs.647069  [show with all ESTs]
    Unigene Representative Sequence: NM_001199692
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000483786 ENST00000466368 ENST00000485713(uc022apz.1) ENST00000413384(uc003wit.4)
    ENST00000494125 ENST00000490898 ENST00000482950 ENST00000463414 ENST00000488420
    ENST00000392826(uc011kve.2) ENST00000461735(uc003wiu.4) ENST00000469355
    ENST00000494298 ENST00000480107 ENST00000493040 ENST00000460010 ENST00000482697
    ENST00000472204
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate SLC4A2:
    hsa-miR-944
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    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC4A2
      QuantiFast Probe-based Assays in human, mouse, rat SLC4A2

    Additional mRNA sequence: 

    AB209158.1 AK295767.1 AK296065.1 AK312699.1 AY927498.1 BC004893.2 BC009386.2 BC009434.1 
    BC010069.2 BC028601.2 U62531.1 X03918.1 X62137.1 

    Selected DOTS entries (see all 27):

    DT.101958385  DT.314587  DT.100811691  DT.101982432  DT.100811689  DT.100811688  DT.92451257  DT.100811695 
    DT.121074402  DT.121074494  DT.100803372  DT.75103240  DT.121074407  DT.429193  DT.100030864  DT.100811683 
    DT.100811692  DT.100811696  DT.100837807  DT.121074451  DT.121074472  DT.92018572  DT.95157114  DT.95157121 

    Selected AceView cDNA sequences (see all 346):

    BQ881981 BM141907 BC009386 CD616179 BM724249 CR594021 BQ690737 BM693515 
    CK819758 BQ687730 BM743016 BM470631 BM556430 AL121219 BU169083 AU150864 
    BU189746 BM668845 BE387636 AA078194 BG775132 BM807054 AI934687 AU124868 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A2 (see all 19)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^
    SP1:        -     -     -     -     -     -     -           -     -     -                                                                       -     -         
    SP2:                    -     -     -     -     -           -     -     -                                                                       -     -         
    SP3:                    -     -     -     -     -           -     -     -                       -     -     -     -                             -     -         
    SP4:                                                                                                                                            -     -         
    SP5:                                            -           -     -     -     -     -     -                                                     -     -         

    ExUns: 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b · 25c ^ 26a · 26b ^ 27 ^ 28a · 28b · 28c ^ 29a · 29b ^
    SP1:                                                              -                             -                                                               
    SP2:                                                              -                             -                                                               
    SP3:                                                              -                             -                                                               
    SP4:                                                              -                             -                                                               
    SP5:                                                              -                             -                                                               

    ExUns: 30a · 30b ^ 31 ^ 32
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for SLC4A2

    (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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    SLC4A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCCTCCCTC
    SLC4A2 Expression
    About this image


    SLC4A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Choroid Plexus
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Tooth (Integumentary System)
             Early Ameloblasts Dental Enamel
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Biliary Epithelial Cells Intrahepatic Biliary Tree
     
     Ovary (Reproductive System)
             Oviduct
    SLC4A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC4A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647069
        Custom PCR Arrays for SLC4A2
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A2

    (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 SLC4A2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc4a21 , 5 solute carrier family 4 (anion exchanger), member 21, 5 87.57(n)1
    94.73(a)1
      5 (11.74 cM)5
    205351  NM_009207.31  NP_033233.21 
     244238375 
    chicken
    (Gallus gallus)
    Aves SLC4A21 solute carrier family 4, anion exchanger, member 2 more 78.09(n)
    81.01(a)
      395809  NM_204963.1  NP_990294.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC4A26
    solute carrier family 4 (anion exchanger), member ...
    60(a)
    1 ↔ 1
    GL344454.1(2048-21154)
    zebrafish
    (Danio rerio)
    Actinopterygii slc4a2b1 solute carrier family 4, anion exchanger, member 2b 67.46(n)
    70.78(a)
      570716  NM_001114440.1  NP_001107912.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG81771 , 3 anion exchanger3
    CG81771
    44(a)3
    54.07(n)1
    47.83(a)1
      391471  NM_168374.21  NP_729551.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R03E9.33 anion exchange protein 26(a)   X(6782894-6795730)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BOR16
    Boron efflux transporter of the plasma membrane; b...
    26(a)
    1 → many
    XIV(119268-120998) YNL275W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G064501 AT3G06450 42.36(n)
    29.64(a)
      819821  NM_001125118.1  NP_001118590.1 


    ENSEMBL Gene Tree for SLC4A2 (if available)
    TreeFam Gene Tree for SLC4A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC4A2 gene
    SLC4A102  SLC4A72  SLC4A42  SLC4A112  SLC4A12  SLC4A52  SLC4A82  SLC4A92  
    SLC4A32  
    13 SIMAP similar genes for SLC4A2 using alignment to 13 protein entries:     B3A2_HUMAN (see all proteins):
    EPB3    AE1    DKFZp781H1314    AE    SLC4A1    SLC4A3
    NBC    SLC4A4    SLC4A10    SLC4A8    SLC4A7    SLC4A5
    SLC4A9

    Find genes that share paralogs with SLC4A2           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 SLC4A2 (see all 411)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38348721,2
    C,F--150757231(-) GGGGGC/-CCCGG 2 -- int15Minor allele frequency- -:0.04NS 170
    rs346067131,2
    C,F--150757236(+) GGGGCC/TCCCAT 2 -- int16Minor allele frequency- T:0.05NS WA 294
    rs1885395191,2
    --150757312(+) TCAGAC/GAGAAG 2 -- int10--------
    rs64641201,2
    C,F,H--150757397(+) GCGGGG/AAGTTC 2 -- int122Minor allele frequency- A:0.09MN NS NA WA CSA EA 962
    rs344118531,2
    F--150757817(+) CCACCC/GGCCCT 4 -- int1 us2k15Minor allele frequency- G:0.01NS 186
    rs1160221961,2
    C,F--150757933(+) CTATAT/CTGTTT 4 -- int1 us2k11Minor allele frequency- C:0.02WA 118
    rs1918562031,2
    --150757941(+) TTTGAC/TGCTAC 4 -- int1 us2k10--------
    rs340266161,2
    C,F,H--150758022(+) GTACCG/ATCACT 4 -- int1 us2k118Minor allele frequency- A:0.08EA NS NA WA 1824
    rs1408063821,2
    --150758188(+) CCACTC/TAGATT 4 -- int1 us2k10--------
    rs1843641821,2
    --150758234(+) ACTGCC/TCCTCA 4 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for SLC4A2 (150754297 - 150773614 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC4A2 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6004CNV Insertion18451855
    nsv517508CNV Loss19592680
    dgv7547n71CNV Loss21882294
    dgv7546n71CNV Loss21882294
    dgv7548n71CNV Loss21882294
    nsv889477CNV Loss21882294
    nsv465215CNV Loss19166990
    nsv889465CNV Loss21882294
    nsv526410CNV Loss19592680
    dgv7545n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SLC4A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC4A2

    (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: 109280    OMIM disorders: --

    2 diseases for SLC4A2:    
    About MalaCards
    hereditary elliptocytosis    primary biliary cirrhosis

    4 diseases from the University of Copenhagen DISEASES database for SLC4A2:
    Primary biliary cirrhosis     Osteopetrosis     Renal tubular acidosis     Hereditary elliptocytosis

    Find genes that share disorders with SLC4A2           About GenesLikeMe

    4 Novoseek inferred disease relationships for SLC4A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    biliary cirrhosis primary 63.5 4 19157624 (1), 8985258 (1), 18471521 (1)
    cholestasis 39.1 1 19882051 (1)
    liver diseases 21.4 2 18930330 (1), 8335211 (1)
    epilepsy 0 1 17008177 (1)

    Genetic Association Database (GAD): SLC4A2
    Human Genome Epidemiology (HuGE) Navigator: SLC4A2 (13 documents)

    Export disorders for SLC4A2 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 SLC4A2 gene, integrated from 10 sources (see all 132):
    (articles sorted by number of sources associating them with SLC4A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic factors of susceptibility and of severity in primary biliary cirrhosis. (PubMed id 18930330)1, 4, 9 Poupon R....Barbu V. (J. Hepatol. 2008)
    2. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    3. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Common genetic variation and haplotypes of the anion exchanger SLC4A2 in primary biliary cirrhosis. (PubMed id 19491853)1, 4 Juran B.D....Lazaridis K.N. (Am. J. Gastroenterol. 2009)
    7. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)
    8. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (Environ. Mol. Mutagen. 2009)
    9. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)1, 4 Hosgood H.D....Lan Q. (Carcinogenesis 2008)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 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: 6522 HGNC: 11028 AceView: SLC4A2 Ensembl:ENSG00000164889 euGenes: HUgn6522
    ECgene: SLC4A2 Kegg: 6522 H-InvDB: SLC4A2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SLC4A2 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/slc4a2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC4A2 gene:
    Search GeneIP for patents involving SLC4A2

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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