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

SLC26A2 Gene

protein-coding   GIFtS: 61
GCID: GC05P149320

solute carrier family 26 (sulfate transporter), member 2


(Previous symbol: DTD)
 Explore 41 diseases affiliated with
SLC26A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC26A2    

Aliases
for SLC26A2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 26 (Sulfate Transporter), Member 21 2     MST1532
DTD1 2 3 5     MSTP1572
DTDST1 2 3 5     Sulfate Anion Transporter 12
Diastrophic Dysplasia Protein2 3     Sulfate Transporter2
D5S17082 5     Solute Carrier Family 26 Member 23
EDM42 5     

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


Summaries
for SLC26A2 gene

(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:
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)

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

Gene Wiki entry for SLC26A2


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  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 plasmid: SLC26A2 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

Proteins
for SLC26A2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P50443

    • SLC26A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000103.2  
    ENSEMBL proteins: 
     ENSP00000286298   ENSP00000405496   ENSP00000426053  
    Reactome Protein details: P50443
    Human Recombinant Protein Products: 
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    Novus Biologicals SLC26A2 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC26A2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8528239
    GO:0016020membrane TAS8528239


    SLC26A2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SLC26A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC26A2 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: 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


    Function
    for SLC26A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    hsa-miR-3910 hsa-miR-362-3p hsa-miR-607 hsa-miR-892b hsa-miR-495 hsa-miR-16-2* hsa-miR-4328 hsa-miR-3664-5p
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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


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

    Animal Models:
         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


    Pathways & Interactions
    for SLC26A2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transmembrane transport of small molecules0.50
    2Multifunctional anion exchangers
    		Multifunctional anion exchangers1.00
    3Amino acid and oligopeptide SLC transporters
    		Transport of inorganic cations/anions and amino acids/oligopeptides0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for SLC26A2
        Multifunctional anion exchangers
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of inorganic cations/anions and amino acids/oligopeptides



    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): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification IEA--
    GO:0006811ion transport TAS--
    GO:0008272sulfate transport IEA--
    GO:0055085transmembrane transport TAS--


    SLC26A2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC26A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC26A2

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

    Transcripts
    for SLC26A2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC26A2 (see all 28):
    hsa-miR-3910 hsa-miR-362-3p hsa-miR-607 hsa-miR-892b hsa-miR-495 hsa-miR-16-2* hsa-miR-4328 hsa-miR-3664-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC26A2 (see all 7)
    OriGene shRNA RFP: SLC26A2
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    Clone
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    Additional cDNA 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):

    AW197706 U14528 AA741468 BC059390 BX103874 NM_000112 AI806609 BX476343 
    BE904725 AI880386 BX474816 AI285850 AA902381 AA468641 CB988765 AI445340 
    BQ437711 AW665726 BG485002 AI025519 AA687784 AI218845 BQ775246 AI033609 

    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

    Expression
    for SLC26A2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC26A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneEndochondral Facial BonesBone
    BoneThoracic RibBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

        SABiosciences Custom PCR Arrays for SLC26A2
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    In Situ
    Assay Products:     
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    Orthologs
    for SLC26A2 gene

    (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 8/21 species (see all 21)    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
    		 --
    		 69(a)
    		 1 ↔ 1
    		 2(122090541-122095810)
    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)   --
    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
    for SLC26A2 gene

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

    SLC26A2 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC26A2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/466 NCBI SNPs in SLC26A2 are shown (see all 466)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048939161,2
    		Cpathogenic156055335(+) CATTGG/TAATCC 2 G V mis10--------
    rs1048939241,2
    		Cpathogenic156055411(+) TTGACT/AGCAGT 2 /S /C mis11Minor allele frequency- A:0.00NA 4526
    rs1219080781,2
    		Cpathogenic156055833(+) GGATAA/CAGTTA 2 K T mis10--------
    rs1048939211,2
    		Cpathogenic156056007(+) TACTCA/CGCTTT 2 Q P mis10--------
    rs1048939171,2
    		C,Fpathogenic156056604(+) GAGTGG/AATTTG 2 /E /G mis11Minor allele frequency- A:0.00NA 4548
    rs1048939191,2
    		Cpathogenic156058777(+) TTGACC/TGAGAA 2 R * stg10--------
    rs47054021,2
    		C,H--144486754(+) aaaaaA/Gaagaa 1 -- us2k1 trp34Minor allele frequency- G:0.00NS EA 416
    rs750633511,2
    		C,F,--144487648(+) ACATTT/CTAATT 1 -- us2k11Minor allele frequency- C:0.10WA 118
    rs770243561,2
    		C,F,--144487664(+) TTTATG/TTTTTA 1 -- us2k11Minor allele frequency- T:0.12WA 118
    rs176554901,2
    		C,F,H,--144487962(+) AGAGGT/CGGCCG 1 -- us2k122Minor allele frequency- C:0.13NA EA NS WA 2558

    HapMap Linkage Disequilibrium report for SLC26A2 (149340300 - 149373018 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SLC26A2
         1 CNV: 69220
    Human Gene Mutation Database (HGMD): SLC26A2

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SLC26A2 gene

    (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.)
    About This Section
    SLC26A2 for disorders           About GeneDecksing

    OMIM gene information: 606718   
    OMIM disorders: 222600  256050  600972  226900  
    UniProtKB/Swiss-Prot: S26A2_HUMAN, P50443
  • Defects in SLC26A2 are the cause of diastrophic dysplasia (DTD) [MIM:222600]. DTD is an autosomal recessive
    • disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and
    specific joint abnormalities
  • Defects in SLC26A2 are the cause of achondrogenesis type 1B (ACG1B) [MIM:600972]. ACG1B is a recessively
    • inherited chondrodysplasia characterized by extremely poor skeletal development and perinatal death
  • Defects in SLC26A2 are the cause of atelosteogenesis type 2 (AO2) [MIM:256050]; also known as neonatal osseous
    • dysplasia 1. AO2 is characterized by severely shortened limbs, small chest, scoliosis, club foot of the equinovarus
    type (talipes equinovarus), abducted thumbs and great toes, and cleft palate. Patients die of respiratory
    insufficiency shortly after birth because of the collapse of the airways and pulmonary hypoplasia due to the small rib
    cage
  • Defects in SLC26A2 are the cause of multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]. EDM is a
    • generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and
    short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and
    the milder Ribbing types. EDM4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia
    and recurrent patella dislocation. Short stature in EDM4 patients is not frequent

    20/41 diseases for SLC26A2 (see all 41):    About MalaCards
    diastrophic dysplasia    diastrophic dysplasia, broad bone-platyspondylic variant    achondrogenesis type ib    epiphyseal dysplasia
    multiple epiphyseal dysplasia    multiple epiphyseal dysplasia, recessive    achondrogenesis    chondrodysplasia
    chloride diarrhea    atelosteogenesis    achondrogenesis type 1b    achondrogenesis type ia
    congenital chloride diarrhea    cerebellopontine angle tumor    talipes equinovarus    pseudodiastrophic dysplasia
    atelosteogenesis ii    pendred syndrome    osteochondrodysplasia    osseous dysplasia

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

    10/15 Novoseek 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
    Achondrogenesis Type 1B
    Atelosteogenesis Type II
    Multiple Epiphyseal Dysplasia, Recessive
    Diastrophic Dysplasia

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

    Export disorders for SLC26A2 gene to outside databases

    Publications
    for SLC26A2 gene

    (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 99):
    (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. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. 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. (2004)
    10. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. (PubMed id 8528239)1, 2 Superti-Furga A.... Gitzelmann R. (1996)

    External Searches for SLC26A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing SLC26A2 gene

    (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

    Other Databases showing SLC26A2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC26A2 gene

    (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

    Intellectual Property
    for SLC26A2 gene

    (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

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