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

SLC26A2 Gene

protein-coding   GIFtS: 62
GCID: GC05P149320

Solute Carrier Family 26 (Anion Exchanger), Member 2

(Previous names: solute carrier family 26 (sulfate transporter), member 2)
(Previous symbol: DTD)
  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 26 (Anion Exchanger), Member 21 2     EDM42 5
DTD1 2 3 5     MST1532
DTDST2 3 5     MSTP1572
Solute Carrier Family 26 (Sulfate Transporter), Member 21 2     Sulfate Anion Transporter 12
Diastrophic Dysplasia Protein2 3     Sulfate Transporter2
D5S17082 5     Solute Carrier Family 26 Member 23

External Ids:    HGNC: 109941   Entrez Gene: 18362   Ensembl: ENSG000001558507   OMIM: 6067185   UniProtKB: P504433   

Export aliases for SLC26A2 gene to outside databases

Previous GC identifers: GC05P149428 GC05P149944 GC05P149323 GC05P149385 GC05P144488


(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 SLC26A2 Gene:
The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of
several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix
organization. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC26A2 Gene: 
SLC26A2 (solute carrier family 26 (anion exchanger), member 2) is a protein-coding gene. Diseases associated with SLC26A2 include diastrophic dysplasia, and atelosteogenesis type 2, and among its related super-pathways are Metabolism of carbohydrates and Phase II conjugation. GO annotations related to this gene include secondary active sulfate transmembrane transporter activity and sulfate transmembrane transporter activity. An important paralog of this gene is SLC26A9.

UniProtKB/Swiss-Prot: S26A2_HUMAN, P50443
Function: Sulfate transporter. May play a role in endochondral bone formation

Gene Wiki entry for SLC26A2 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_000005.9  NC_018916.2  NT_029289.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC26A2 gene promoter:
         GR   POU2F1   p53   POU2F1a   AP-2beta   GR-alpha   AP-2alpha   AP-2gamma   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC26A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC26A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC26A2


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

Entrez Gene cytogenetic band: 5q31-q34   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q31-q34

SLC26A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC26A2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P149320:  view genomic region     (about GC identifiers)

Start:
149,340,300 bp from pter      End:
149,373,018 bp from pter
Size:
32,719 bases      Orientation:
plus 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: S26A2_HUMAN, P50443 (See protein sequence)
Recommended Name: Sulfate transporter  
Size: 739 amino acids; 81662 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: A8K2U3 B2R6J1 Q6N051

Explore the universe of human proteins at neXtProt for SLC26A2: NX_P50443

Explore proteomics data for SLC26A2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P50443

  • SLC26A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC26A2 Protein Expression
    REFSEQ proteins: NP_000103.2  
    ENSEMBL proteins: 
     ENSP00000286298   ENSP00000405496   ENSP00000426053  
    Reactome Protein details: P50443
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8528239
    GO:0016020membrane TAS8528239
    GO:0016021integral to membrane ----

    SLC26A2 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: DTDST 
    Selective sulphate transporters

    4 InterPro protein domains:
     IPR002645 STAS_dom
     IPR018045 S04_transporter_CS
     IPR001902 SulP_transpt
     IPR011547 Sulph_transpt

    Graphical View of Domain Structure for InterPro Entry P50443

    ProtoNet protein and cluster: P50443

    1 Blocks protein domain: IPB001902 Sulphate transporter

    UniProtKB/Swiss-Prot: S26A2_HUMAN, P50443
    Similarity: Belongs to the SLC26A/SulP transporter (TC 2.A.53) family
    Similarity: Contains 1 STAS domain


    SLC26A2 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: S26A2_HUMAN, P50443
    Function: Sulfate transporter. May play a role in endochondral bone formation

         Genatlas biochemistry entry for SLC26A2:
    solute carrier family 26,member A2,sulfate,chloride,oxalate transporter,with homology to rat sat-1,ubiquitously
    expressed,involved in proteoglycan sulfate activation

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008271secondary active sulfate transmembrane transporter activity IEA--
    GO:0015116sulfate transmembrane transporter activity TAS7923357
         
    SLC26A2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SLC26A2:
     G0/1 arrest  Increased G1 DNA content  Increased cell size 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc26a2):
     cellular  craniofacial  growth/size  limbs/digits/tail  mortality/aging 
     skeleton 

    SLC26A2 for phenotypes           About GeneDecksing

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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 SLC26A2 About   (see all 8)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    2Biological oxidations
    Biological oxidations0.55
    Phase II conjugation0.55
    3Cytosolic sulfonation of small molecules
    Cytosolic sulfonation of small molecules0.52
    Transport and synthesis of PAPS0.35
    4SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    5Amino acid and oligopeptide SLC transporters
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/24        Reactome Pathways for SLC26A2 (see all 24)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Multifunctional anion exchangers
    Transmembrane transport of small molecules



    SLC26A2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC26A2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SLC26A2 (ENSP000002862984) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification IEA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0006811ion transport TAS--
    GO:0008272sulfate transport IEA--

    SLC26A2 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

    SLC26A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC26A2 (S26A2)

    1 HMDB Compound for SLC26A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    SulfateSulfate (ion 2-) (see all 9)14808-79-8--

    8 Novoseek inferred chemical compound relationships for SLC26A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sulfate 86.2 108 9575183 (4), 18708426 (3), 15513522 (3), 18056413 (3) (see all 47)
    chloride 51.9 5 15720248 (1), 9575183 (1), 18056413 (1), 11834742 (1)
    oxalate 38.3 1 15720248 (1)
    iodide 28.6 1 15720248 (1)
    bicarbonate 28 3 15720248 (1), 9575183 (1), 11914518 (1)
    formate 21.1 1 15720248 (1)
    cysteine 13.6 1 11008738 (1)
    dexamethasone 8.65 6 16954997 (3), 18056413 (2)

    Search CenterWatch for drugs/clinical trials and news about SLC26A2 / S26A2

    (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 SLC26A2 gene: 
    NM_000112.3  

    Unigene Cluster for SLC26A2:

    Solute carrier family 26 (sulfate transporter), member 2
    Hs.302738  [show with all ESTs]
    Unigene Representative Sequence: NM_000112
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000286298(uc003lrh.3) ENST00000433184 ENST00000503336
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    Additional mRNA sequence: 

    AF190156.1 AF190160.1 AK025078.1 AK290358.1 AK312596.1 BC059390.1 BX640696.1 U14528.1 

    13 DOTS entries:

    DT.100693628  DT.313357  DT.92428795  DT.95287546  DT.443210  DT.100771883  DT.91707139  DT.95362287 
    DT.91655203  DT.92010351  DT.40265077  DT.100793452  DT.92428792 

    24/51 AceView cDNA sequences (see all 51):

    AI806609 NM_000112 U14528 AW197706 AA741468 BC059390 BX103874 AI445340 
    BE904725 AI214493 AA902381 AI880386 BX474816 AI285850 BG485002 AI218845 
    BU951293 AI033609 AA687784 BQ437711 AA485136 AA468641 AW968516 CF265059 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4
    SP1:                                    
    SP2:              -                     


    ECgene alternative splicing isoforms for SLC26A2

    (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

    SLC26A2 expression in normal human tissues (normalized intensities)      SLC26A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC26A2 Expression
    About this image


    SLC26A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 10 entries
             Membranous Facial Bones
             sensory organ/ear/inner ear   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 6 entries
             sensory organ/nose/nasal septum   
     
     Somite (Muscoskeletal System)    fully expand to see all 5 entries
             skeleton/axial skeleton/sacral region   
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 5 entries
             skeleton/axial skeleton/sacral region   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 4 entries
             skeleton/cranium/chondrocranium   

    See SLC26A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC26A2

    SOURCE GeneReport for Unigene cluster: Hs.302738

    UniProtKB/Swiss-Prot: S26A2_HUMAN, P50443
    Tissue specificity: Ubiquitously expressed

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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 SLC26A2 gene from 9/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc26a21 , 5 solute carrier family 26 (sulfate transporter), member more1, 5 83.45(n)1
    80.92(a)1
      18 (34.41 cM)5
    135211  NM_007885.21  NP_031911.11 
     611929195 
    chicken
    (Gallus gallus)
    Aves SLC26A21 solute carrier family 26 (sulfate transporter), member more 71.51(n)
    72.74(a)
      427611  XM_425183.3  XP_425183.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC26A26
    Uncharacterized protein
    69(a)
    1 ↔ 1
    2(122090526-122112120)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.134422 Transcribed sequence with weak similarity to protein more 74.58(n)    BX731916.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb5652 sbcb565 72.47(n)   368297  CA474648.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG54853 high affinity sulfate permease 29(a)   75A9   --
    worm
    (Caenorhabditis elegans)
    Secernentea W04G3.63 dra like protein 35(a)
    (best of 7)
      X(11115908-11117663)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SUL16
    SUL26
    High affinity sulfate permease of the SulP anion t...
    High affinity sulfate permease; sulfate uptake is ...
    17(a)
    15(a)
    many ↔ many
    many ↔ many
    II(789235-791814)
    XII(323544-326225)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SULTR1;11 sulfate transporter 1.1 42.68(n)
    29.93(a)
      826426  NM_116931.2  NP_192602.1 


    ENSEMBL Gene Tree for SLC26A2 (if available)
    TreeFam Gene Tree for SLC26A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC26A2 gene
    SLC26A92  SLC26A32  SLC26A62  SLC26A12  SLC26A52  SLC26A112  SLC26A102  SLC26A72  
    SLC26A42  SLC26A82  
    12 SIMAP similar genes for SLC26A2 using alignment to 3 protein entries:     S26A2_HUMAN (see all proteins):
    SLC26A1    SLC26A11    SLC26A10    DKFZp686P10213    SLC26A6    SLC26A3
    SLC26A4    PRES    RESDA1    SLC26A5    SLC26A7    SLC26A9

    SLC26A2 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

    10/592 SNPs in SLC26A2 are shown (see all 592)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0074344
    Atelosteogenesis 2 (AO2)4--see VAR_0074342 G E mis40--------
    VAR_0074384
    Achondrogenesis 1B (ACG1B)4--see VAR_0074382 G V mis40--------
    VAR_0074374
    Achondrogenesis 1B (ACG1B)4--see VAR_0074372 N D mis40--------
    VAR_0186554
    Multiple epiphyseal dysplasia 4 (EDM4)4--see VAR_0186552 C S mis40--------
    VAR_0074394
    Multiple epiphyseal dysplasia 4 (EDM4)4--see VAR_0074392 A V mis40--------
    VAR_0668354
    Multiple epiphyseal dysplasia 4 (EDM4)4--see VAR_0668352 F S mis40--------
    rs1048939151,2,4
    C,FMultiple epiphyseal dysplasia 4 (EDM4)4 pathogenic1149636389(+) TTCCTC/TGGACT 2 R W mis12Minor allele frequency- T:0.00NA EU 5875
    rs1048939191,2
    Cpathogenic1149634144(+) TTGACC/TGAGAA 2 R * stg10--------
    rs1048939171,2
    C,Fpathogenic1149636318(+) GAGTGG/AATTTG 2 /E /G mis11Minor allele frequency- A:0.00NA 4548
    rs1048939201,2
    Cpathogenic1149636827(+) TTTGTA/GATATC 2 N D mis10--------

    HapMap Linkage Disequilibrium report for SLC26A2 (149340300 - 149373018 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC26A2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830518CNV Loss17160897
    esv24664CNV Gain+Loss19812545


    Human Gene Mutation Database (HGMD): SLC26A2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC26A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC26A2

    (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: 606718   
    OMIM disorders: 222600  256050  600972  226900  
    UniProtKB/Swiss-Prot: S26A2_HUMAN, P50443
  • Diastrophic dysplasia (DTD) [MIM:222600]: An autosomal recessive disease characterized by
    osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint
    abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Achondrogenesis 1B (ACG1B) [MIM:600972]: A form of achondrogenesis type 1, a lethal form of
    chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the
    sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia,
    there is a disproportionately large cranium due to marked edema of soft tissues. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Atelosteogenesis 2 (AO2) [MIM:256050]: A perinatal dysplasia characterized by shortening of the limbs, a
    dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900]: A generalized skeletal dysplasia associated with
    significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs
    and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal
    ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly
    categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by
    shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle,
    hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that
    are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 4 is a recessively
    inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short
    stature is not frequent. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/35 diseases for SLC26A2 (see all 35):    About MalaCards
    diastrophic dysplasia    atelosteogenesis type 2    achondrogenesis type ib    pseudodiastrophic dysplasia
    systemic onset juvenile idiopathic arthritis    diastrophic dysplasia, broad bone-platyspondylic variant    sulfate transporter-related osteochondrodysplasia    multiple epiphyseal dysplasia, recessive
    cerebellopontine angle tumor    atelosteogenesis    achondrogenesis type ia    omodysplasia
    congenital chloride diarrhea    multiple epiphyseal dysplasia    achondrogenesis    pseudoachondroplasia
    otosclerosis    osteochondrodysplasia    talipes equinovarus    clubfoot

    6 diseases from the University of Copenhagen DISEASES database for SLC26A2:
    Diastrophic dysplasia     Atelosteogenesis     Achondrogenesis     Multiple epiphyseal dysplasia
    Cerebellopontine angle tumor     Clubfoot

    SLC26A2 for disorders           About GeneDecksing

    10/15 Novoseek inferred disease relationships for SLC26A2 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diastrophic dysplasia 99 108 18553123 (3), 16642506 (3), 9342225 (3), 18925670 (2) (see all 45)
    achondrogenesis, type ib 97.9 17 18708426 (2), 15720248 (1), 17638425 (1), 9822202 (1) (see all 9)
    atelosteogenesis, type ii 97.2 11 16642506 (2), 15720248 (1), 8571951 (1), 15316973 (1) (see all 6)
    multiple epiphyseal dysplasia 95.7 19 15720248 (1), 12966518 (1), 18553123 (1), 11457925 (1) (see all 13)
    osteochondrodysplasias 89.5 4 11008738 (1), 9575183 (1), 11570921 (1)
    skeletal dysplasia 79.2 6 12966518 (1), 18708426 (1), 11241838 (1), 14692227 (1)
    pendred syndrome 78.2 2 17120758 (1), 11834742 (1)
    psach 76.3 1 11968079 (1)
    club foot 74.7 4 11950872 (1), 10465113 (1), 11565064 (1)
    bone dysplasias 72.2 1 8723100 (1)

    GeneTests: SLC26A2
    GeneReviews: SLC26A2
    Genetic Association Database (GAD): SLC26A2
    Human Genome Epidemiology (HuGE) Navigator: SLC26A2 (7 documents)

    Export disorders for SLC26A2 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 SLC26A2 gene, integrated from 9 sources (see all 100):
    (articles sorted by number of sources associating them with SLC26A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. (PubMed id 7923357)1, 2, 3 Haestbacka J.... Lander E.S. (1994)
    2. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. (PubMed id 8571951)1, 2, 9 Haestbacka J....Lander E.S. (1996)
    3. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. (PubMed id 12966518)1, 2, 9 Maekitie O.... Cole W.G. (2003)
    4. Positive association of SLC26A2 gene polymorphisms with susceptibility to systemic-onset juvenile idiopathic arthritis. (PubMed id 17393463)1, 4, 9 Lamb R....Donn R. (2007)
    5. Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis. (PubMed id 11558903)1, 4, 9 Ikeda T....Ikegawa S. (2001)
    6. Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. (PubMed id 10466420)1, 2, 9 Megarbane A.... Superti-Furga A. (1999)
    7. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. (PubMed id 15523498)1, 4, 9 Jakkula E....Ala-Kokko L. (2005)
    8. The -9247 T/C polymorphism in the SOST upstream regulatory region that potentially affects C/EBPalpha and FOXA1 binding is associated with osteoporosis. (PubMed id 19371798)1, 4, 9 Huang Q.Y....Kung A.W. (2009)
    9. Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? (PubMed id 12193993)1, 4, 9 Remes V.M....Peltonen J.I. (2002)
    10. Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. (PubMed id 21922596)1, 2 Jackson G.C....Briggs M.D. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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      (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: 1836 HGNC: 10994 AceView: SLC26A2 Ensembl:ENSG00000155850 euGenes: HUgn1836
    ECgene: SLC26A2 H-InvDB: SLC26A2

    (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 SLC26A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC26A2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC26A2 gene:
    Search GeneIP for patents involving SLC26A2

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



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