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P50443

- S26A2_HUMAN

UniProt

P50443 - S26A2_HUMAN

Protein

Sulfate transporter

Gene

SLC26A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 2 (28 Jul 2009)
      Previous versions | rss
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    Functioni

    Sulfate transporter. May play a role in endochondral bone formation.

    GO - Molecular functioni

    1. secondary active sulfate transmembrane transporter activity Source: InterPro
    2. sulfate transmembrane transporter activity Source: ProtInc

    GO - Biological processi

    1. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process Source: Reactome
    2. 3'-phosphoadenosine 5'-phosphosulfate metabolic process Source: Reactome
    3. carbohydrate metabolic process Source: Reactome
    4. glycosaminoglycan metabolic process Source: Reactome
    5. ion transport Source: Reactome
    6. ossification Source: Ensembl
    7. small molecule metabolic process Source: Reactome
    8. sulfate transmembrane transport Source: GOC
    9. sulfate transport Source: ProtInc
    10. transmembrane transport Source: Reactome
    11. xenobiotic metabolic process Source: Reactome

    Keywords - Biological processi

    Transport

    Enzyme and pathway databases

    ReactomeiREACT_19357. Multifunctional anion exchangers.
    REACT_6840. Transport and synthesis of PAPS.

    Protein family/group databases

    TCDBi2.A.53.2.1. the sulfate permease (sulp) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sulfate transporter
    Alternative name(s):
    Diastrophic dysplasia protein
    Solute carrier family 26 member 2
    Gene namesi
    Name:SLC26A2
    Synonyms:DTD, DTDST
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:10994. SLC26A2.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. membrane Source: ProtInc
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti340 – 3401Missing in ACG1B. 1 Publication
    VAR_007436
    Natural varianti425 – 4251N → D in ACG1B. 1 Publication
    VAR_007437
    Natural varianti678 – 6781G → V in ACG1B. 1 Publication
    VAR_007438
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti255 – 2551G → E in AO2. 1 Publication
    VAR_007434
    Natural varianti279 – 2791R → W in AO2 and EDM4. 2 Publications
    Corresponds to variant rs104893915 [ dbSNP | Ensembl ].
    VAR_007435
    Natural varianti715 – 7151A → V in AO2 and EDM4. 2 Publications
    VAR_007439
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti256 – 2561F → S in EDM4. 1 Publication
    VAR_066835
    Natural varianti279 – 2791R → W in AO2 and EDM4. 2 Publications
    Corresponds to variant rs104893915 [ dbSNP | Ensembl ].
    VAR_007435
    Natural varianti653 – 6531C → S in EDM4. 2 Publications
    VAR_018655
    Natural varianti715 – 7151A → V in AO2 and EDM4. 2 Publications
    VAR_007439

    Keywords - Diseasei

    Disease mutation, Dwarfism

    Organism-specific databases

    MIMi222600. phenotype.
    226900. phenotype.
    256050. phenotype.
    600972. phenotype.
    Orphaneti93298. Achondrogenesis type 1B.
    56304. Atelosteogenesis type II.
    628. Diastrophic dwarfism.
    93307. Multiple epiphyseal dysplasia type 4.
    PharmGKBiPA149.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 739739Sulfate transporterPRO_0000080158Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei12 – 121Phosphoserine1 Publication
    Modified residuei16 – 161Phosphoserine1 Publication
    Glycosylationi199 – 1991N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi205 – 2051N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi357 – 3571N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP50443.
    PaxDbiP50443.
    PRIDEiP50443.

    PTM databases

    PhosphoSiteiP50443.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed.

    Gene expression databases

    ArrayExpressiP50443.
    BgeeiP50443.
    CleanExiHS_SLC26A2.
    GenevestigatoriP50443.

    Organism-specific databases

    HPAiHPA041957.

    Interactioni

    Protein-protein interaction databases

    BioGridi108169. 3 interactions.
    MINTiMINT-5001062.
    STRINGi9606.ENSP00000286298.

    Structurei

    3D structure databases

    ProteinModelPortaliP50443.
    SMRiP50443. Positions 549-723.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 111111CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini133 – 1364ExtracellularSequence Analysis
    Topological domaini158 – 1592CytoplasmicSequence Analysis
    Topological domaini181 – 21838ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini240 – 2412CytoplasmicSequence Analysis
    Topological domaini263 – 29634ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini318 – 32811CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini350 – 37728ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini399 – 42022CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini442 – 45413ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini476 – 52348CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini545 – 64399ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini665 – 73975CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei112 – 13221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei137 – 15721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei160 – 18021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei219 – 23921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei242 – 26221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei297 – 31721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei329 – 34921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei378 – 39821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei421 – 44121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei455 – 47521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei524 – 54421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei644 – 66421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini568 – 719152STASPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 STAS domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0659.
    HOGENOMiHOG000006546.
    HOVERGENiHBG000639.
    InParanoidiP50443.
    KOiK14701.
    OMAiFKQFVIK.
    OrthoDBiEOG76T9QT.
    PhylomeDBiP50443.
    TreeFamiTF313784.

    Family and domain databases

    Gene3Di3.30.750.24. 2 hits.
    InterProiIPR018045. S04_transporter_CS.
    IPR002645. STAS_dom.
    IPR001902. SulP_transpt.
    IPR011547. Sulph_transpt.
    [Graphical view]
    PfamiPF01740. STAS. 1 hit.
    PF00916. Sulfate_transp. 1 hit.
    [Graphical view]
    SUPFAMiSSF52091. SSF52091. 2 hits.
    TIGRFAMsiTIGR00815. sulP. 1 hit.
    PROSITEiPS01130. SLC26A. 1 hit.
    PS50801. STAS. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P50443-1 [UniParc]FASTAAdd to Basket

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    MSSESKEQHN VSPRDSAEGN DSYPSGIHLE LQRESSTDFK QFETNDQCRP    50
    YHRILIERQE KSDTNFKEFV IKKLQKNCQC SPAKAKNMIL GFLPVLQWLP 100
    KYDLKKNILG DVMSGLIVGI LLVPQSIAYS LLAGQEPVYG LYTSFFASII 150
    YFLLGTSRHI SVGIFGVLCL MIGETVDREL QKAGYDNAHS APSLGMVSNG 200
    STLLNHTSDR ICDKSCYAIM VGSTVTFIAG VYQVAMGFFQ VGFVSVYLSD 250
    ALLSGFVTGA SFTILTSQAK YLLGLNLPRT NGVGSLITTW IHVFRNIHKT 300
    NLCDLITSLL CLLVLLPTKE LNEHFKSKLK APIPIELVVV VAATLASHFG 350
    KLHENYNSSI AGHIPTGFMP PKVPEWNLIP SVAVDAIAIS IIGFAITVSL 400
    SEMFAKKHGY TVKANQEMYA IGFCNIIPSF FHCFTTSAAL AKTLVKESTG 450
    CHTQLSGVVT ALVLLLVLLV IAPLFYSLQK SVLGVITIVN LRGALRKFRD 500
    LPKMWSISRM DTVIWFVTML SSALLSTEIG LLVGVCFSIF CVILRTQKPK 550
    SSLLGLVEES EVFESVSAYK NLQIKPGIKI FRFVAPLYYI NKECFKSALY 600
    KQTVNPILIK VAWKKAAKRK IKEKVVTLGG IQDEMSVQLS HDPLELHTIV 650
    IDCSAIQFLD TAGIHTLKEV RRDYEAIGIQ VLLAQCNPTV RDSLTNGEYC 700
    KKEEENLLFY SVYEAMAFAE VSKNQKGVCV PNGLSLSSD 739
    Length:739
    Mass (Da):81,662
    Last modified:July 28, 2009 - v2
    Checksum:i577984D0E973087F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti619 – 6191R → G in CAE45819. (PubMed:17974005)Curated
    Sequence conflicti622 – 6221K → R in BAG35488. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti255 – 2551G → E in AO2. 1 Publication
    VAR_007434
    Natural varianti256 – 2561F → S in EDM4. 1 Publication
    VAR_066835
    Natural varianti279 – 2791R → W in AO2 and EDM4. 2 Publications
    Corresponds to variant rs104893915 [ dbSNP | Ensembl ].
    VAR_007435
    Natural varianti340 – 3401Missing in ACG1B. 1 Publication
    VAR_007436
    Natural varianti425 – 4251N → D in ACG1B. 1 Publication
    VAR_007437
    Natural varianti454 – 4541Q → P in diatrophic dysplasia; broad bone-platyspondylic variant. 1 Publication
    VAR_018654
    Natural varianti574 – 5741I → T.3 Publications
    Corresponds to variant rs30832 [ dbSNP | Ensembl ].
    VAR_058415
    Natural varianti653 – 6531C → S in EDM4. 2 Publications
    VAR_018655
    Natural varianti678 – 6781G → V in ACG1B. 1 Publication
    VAR_007438
    Natural varianti689 – 6891T → S.
    Corresponds to variant rs3776070 [ dbSNP | Ensembl ].
    VAR_020402
    Natural varianti715 – 7151A → V in AO2 and EDM4. 2 Publications
    VAR_007439

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U14528 mRNA. Translation: AAA70081.1.
    AK290358 mRNA. Translation: BAF83047.1.
    AK312596 mRNA. Translation: BAG35488.1.
    AC008427 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW61755.1.
    BC059390 mRNA. Translation: AAH59390.1.
    BX640696 mRNA. Translation: CAE45819.1.
    CCDSiCCDS4300.1.
    PIRiA54808.
    RefSeqiNP_000103.2. NM_000112.3.
    UniGeneiHs.302738.

    Genome annotation databases

    EnsembliENST00000286298; ENSP00000286298; ENSG00000155850.
    GeneIDi1836.
    KEGGihsa:1836.
    UCSCiuc003lrh.3. human.

    Polymorphism databases

    DMDMi254763328.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U14528 mRNA. Translation: AAA70081.1 .
    AK290358 mRNA. Translation: BAF83047.1 .
    AK312596 mRNA. Translation: BAG35488.1 .
    AC008427 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW61755.1 .
    BC059390 mRNA. Translation: AAH59390.1 .
    BX640696 mRNA. Translation: CAE45819.1 .
    CCDSi CCDS4300.1.
    PIRi A54808.
    RefSeqi NP_000103.2. NM_000112.3.
    UniGenei Hs.302738.

    3D structure databases

    ProteinModelPortali P50443.
    SMRi P50443. Positions 549-723.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108169. 3 interactions.
    MINTi MINT-5001062.
    STRINGi 9606.ENSP00000286298.

    Protein family/group databases

    TCDBi 2.A.53.2.1. the sulfate permease (sulp) family.

    PTM databases

    PhosphoSitei P50443.

    Polymorphism databases

    DMDMi 254763328.

    Proteomic databases

    MaxQBi P50443.
    PaxDbi P50443.
    PRIDEi P50443.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000286298 ; ENSP00000286298 ; ENSG00000155850 .
    GeneIDi 1836.
    KEGGi hsa:1836.
    UCSCi uc003lrh.3. human.

    Organism-specific databases

    CTDi 1836.
    GeneCardsi GC05P149320.
    GeneReviewsi SLC26A2.
    H-InvDB HIX0005307.
    HGNCi HGNC:10994. SLC26A2.
    HPAi HPA041957.
    MIMi 222600. phenotype.
    226900. phenotype.
    256050. phenotype.
    600972. phenotype.
    606718. gene.
    neXtProti NX_P50443.
    Orphaneti 93298. Achondrogenesis type 1B.
    56304. Atelosteogenesis type II.
    628. Diastrophic dwarfism.
    93307. Multiple epiphyseal dysplasia type 4.
    PharmGKBi PA149.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0659.
    HOGENOMi HOG000006546.
    HOVERGENi HBG000639.
    InParanoidi P50443.
    KOi K14701.
    OMAi FKQFVIK.
    OrthoDBi EOG76T9QT.
    PhylomeDBi P50443.
    TreeFami TF313784.

    Enzyme and pathway databases

    Reactomei REACT_19357. Multifunctional anion exchangers.
    REACT_6840. Transport and synthesis of PAPS.

    Miscellaneous databases

    ChiTaRSi SLC26A2. human.
    GeneWikii SLC26A2.
    GenomeRNAii 1836.
    NextBioi 7495.
    PROi P50443.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P50443.
    Bgeei P50443.
    CleanExi HS_SLC26A2.
    Genevestigatori P50443.

    Family and domain databases

    Gene3Di 3.30.750.24. 2 hits.
    InterProi IPR018045. S04_transporter_CS.
    IPR002645. STAS_dom.
    IPR001902. SulP_transpt.
    IPR011547. Sulph_transpt.
    [Graphical view ]
    Pfami PF01740. STAS. 1 hit.
    PF00916. Sulfate_transp. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52091. SSF52091. 2 hits.
    TIGRFAMsi TIGR00815. sulP. 1 hit.
    PROSITEi PS01130. SLC26A. 1 hit.
    PS50801. STAS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping."
      Haestbacka J., de la Chapelle A., Mahtani M.M., Clines G., Reeve-Daly M.P., Daly M., Hamilton B.A., Kusumi K., Trivedi B., Weaver A., Coloma A., Lovett M., Buckler A., Kaitila I., Lander E.S.
      Cell 78:1073-1087(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-574.
      Tissue: Brain.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-574.
      Tissue: Tongue.
    3. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-574.
      Tissue: Placenta.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 614-739.
      Tissue: Prostate.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12 AND SER-16, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene."
      Superti-Furga A., Haestbacka J., Wilcox W.R., Cohn D.H., van der Harten H.J., Rossi A., Blau N., Rimoin D.L., Steinmann B., Lander E.S., Gitzelmann R.
      Nat. Genet. 12:100-102(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ACG1B VAL-340 DEL; ASP-425 AND VAL-678.
    9. "Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias."
      Haestbacka J., Superti-Furga A., Wilcox W.R., Rimoin D.L., Cohn D.H., Lander E.S.
      Am. J. Hum. Genet. 58:255-262(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS AO2 GLU-255; TRP-279 AND VAL-715.
    10. "Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia."
      Megarbane A., Haddad F.A., Haddad-Zebouni S., Achram M., Eich G., Le Merrer M., Superti-Furga A.
      Clin. Genet. 56:71-76(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DIATROPHIC DYSPLASIA PRO-454.
    11. "Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign."
      Maekitie O., Savarirayan R., Bonafe L., Robertson S., Susic M., Superti-Furga A., Cole W.G.
      Am. J. Med. Genet. A 122:187-192(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EDM4 SER-653.
    12. "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."
      Jackson G.C., Mittaz-Crettol L., Taylor J.A., Mortier G.R., Spranger J., Zabel B., Le Merrer M., Cormier-Daire V., Hall C.M., Offiah A., Wright M.J., Savarirayan R., Nishimura G., Ramsden S.C., Elles R., Bonafe L., Superti-Furga A., Unger S., Zankl A., Briggs M.D.
      Hum. Mutat. 33:144-157(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EDM4 SER-256; TRP-279; SER-653 AND VAL-715.

    Entry informationi

    Entry nameiS26A2_HUMAN
    AccessioniPrimary (citable) accession number: P50443
    Secondary accession number(s): A8K2U3, B2R6J1, Q6N051
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: July 28, 2009
    Last modified: October 1, 2014
    This is version 147 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3