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P50443

- S26A2_HUMAN

UniProt

P50443 - S26A2_HUMAN

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Protein
Sulfate transporter
Gene
SLC26A2, DTD, DTDST
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 111111Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei112 – 13221Helical; Reviewed prediction
Add
BLAST
Topological domaini133 – 1364Extracellular Reviewed prediction
Transmembranei137 – 15721Helical; Reviewed prediction
Add
BLAST
Topological domaini158 – 1592Cytoplasmic Reviewed prediction
Transmembranei160 – 18021Helical; Reviewed prediction
Add
BLAST
Topological domaini181 – 21838Extracellular Reviewed prediction
Add
BLAST
Transmembranei219 – 23921Helical; Reviewed prediction
Add
BLAST
Topological domaini240 – 2412Cytoplasmic Reviewed prediction
Transmembranei242 – 26221Helical; Reviewed prediction
Add
BLAST
Topological domaini263 – 29634Extracellular Reviewed prediction
Add
BLAST
Transmembranei297 – 31721Helical; Reviewed prediction
Add
BLAST
Topological domaini318 – 32811Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei329 – 34921Helical; Reviewed prediction
Add
BLAST
Topological domaini350 – 37728Extracellular Reviewed prediction
Add
BLAST
Transmembranei378 – 39821Helical; Reviewed prediction
Add
BLAST
Topological domaini399 – 42022Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei421 – 44121Helical; Reviewed prediction
Add
BLAST
Topological domaini442 – 45413Extracellular Reviewed prediction
Add
BLAST
Transmembranei455 – 47521Helical; Reviewed prediction
Add
BLAST
Topological domaini476 – 52348Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei524 – 54421Helical; Reviewed prediction
Add
BLAST
Topological domaini545 – 64399Extracellular Reviewed prediction
Add
BLAST
Transmembranei644 – 66421Helical; Reviewed prediction
Add
BLAST
Topological domaini665 – 73975Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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 transporter
PRO_0000080158Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini568 – 719152STAS
Add
BLAST

Sequence similaritiesi

Contains 1 STAS domain.

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

« Hide

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti619 – 6191R → G in CAE45819. 1 Publication
Sequence conflicti622 – 6221K → R in BAG35488. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 146 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

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