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Protein

Sulfate transporter

Gene

SLC26A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000155850-MONOMER.
ReactomeiR-HSA-174362. Transport and synthesis of PAPS.
R-HSA-427601. Multifunctional anion exchangers.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:10994. SLC26A2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 111CytoplasmicSequence analysisAdd BLAST111
Transmembranei112 – 132HelicalSequence analysisAdd BLAST21
Topological domaini133 – 136ExtracellularSequence analysis4
Transmembranei137 – 157HelicalSequence analysisAdd BLAST21
Topological domaini158 – 159CytoplasmicSequence analysis2
Transmembranei160 – 180HelicalSequence analysisAdd BLAST21
Topological domaini181 – 218ExtracellularSequence analysisAdd BLAST38
Transmembranei219 – 239HelicalSequence analysisAdd BLAST21
Topological domaini240 – 241CytoplasmicSequence analysis2
Transmembranei242 – 262HelicalSequence analysisAdd BLAST21
Topological domaini263 – 296ExtracellularSequence analysisAdd BLAST34
Transmembranei297 – 317HelicalSequence analysisAdd BLAST21
Topological domaini318 – 328CytoplasmicSequence analysisAdd BLAST11
Transmembranei329 – 349HelicalSequence analysisAdd BLAST21
Topological domaini350 – 377ExtracellularSequence analysisAdd BLAST28
Transmembranei378 – 398HelicalSequence analysisAdd BLAST21
Topological domaini399 – 420CytoplasmicSequence analysisAdd BLAST22
Transmembranei421 – 441HelicalSequence analysisAdd BLAST21
Topological domaini442 – 454ExtracellularSequence analysisAdd BLAST13
Transmembranei455 – 475HelicalSequence analysisAdd BLAST21
Topological domaini476 – 523CytoplasmicSequence analysisAdd BLAST48
Transmembranei524 – 544HelicalSequence analysisAdd BLAST21
Topological domaini545 – 643ExtracellularSequence analysisAdd BLAST99
Transmembranei644 – 664HelicalSequence analysisAdd BLAST21
Topological domaini665 – 739CytoplasmicSequence analysisAdd BLAST75

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • membrane Source: ProtInc
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Diastrophic dysplasia (DTD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities.
See also OMIM:222600
Achondrogenesis 1B (ACG1B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600972
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007436340Missing in ACG1B. 1 Publication1
Natural variantiVAR_007437425N → D in ACG1B. 1 PublicationCorresponds to variant rs104893920dbSNPEnsembl.1
Natural variantiVAR_007438678G → V in ACG1B. 1 PublicationCorresponds to variant rs104893916dbSNPEnsembl.1
Atelosteogenesis 2 (AO2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth.
See also OMIM:256050
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007434255G → E in AO2. 1 PublicationCorresponds to variant rs104893917dbSNPEnsembl.1
Natural variantiVAR_007435279R → W in AO2 and EDM4. 2 PublicationsCorresponds to variant rs104893915dbSNPEnsembl.1
Natural variantiVAR_007439715A → V in AO2 and EDM4. 2 PublicationsCorresponds to variant rs104893918dbSNPEnsembl.1
Multiple epiphyseal dysplasia 4 (EDM4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:226900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066835256F → S in EDM4. 1 Publication1
Natural variantiVAR_007435279R → W in AO2 and EDM4. 2 PublicationsCorresponds to variant rs104893915dbSNPEnsembl.1
Natural variantiVAR_018655653C → S in EDM4. 2 PublicationsCorresponds to variant rs104893924dbSNPEnsembl.1
Natural variantiVAR_007439715A → V in AO2 and EDM4. 2 PublicationsCorresponds to variant rs104893918dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi1836.
MalaCardsiSLC26A2.
MIMi222600. phenotype.
226900. phenotype.
256050. phenotype.
600972. phenotype.
OpenTargetsiENSG00000155850.
Orphaneti93298. Achondrogenesis type 1B.
56304. Atelosteogenesis type II.
628. Diastrophic dwarfism.
93307. Multiple epiphyseal dysplasia type 4.
PharmGKBiPA149.

Polymorphism and mutation databases

BioMutaiSLC26A2.
DMDMi254763328.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000801581 – 739Sulfate transporterAdd BLAST739

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei12PhosphoserineCombined sources1
Modified residuei16PhosphoserineCombined sources1
Glycosylationi199N-linked (GlcNAc...)Sequence analysis1
Glycosylationi205N-linked (GlcNAc...)Sequence analysis1
Glycosylationi357N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP50443.
MaxQBiP50443.
PaxDbiP50443.
PeptideAtlasiP50443.
PRIDEiP50443.

PTM databases

iPTMnetiP50443.
PhosphoSitePlusiP50443.
SwissPalmiP50443.

Expressioni

Tissue specificityi

Ubiquitously expressed.

Gene expression databases

BgeeiENSG00000155850.
CleanExiHS_SLC26A2.
ExpressionAtlasiP50443. baseline and differential.
GenevisibleiP50443. HS.

Organism-specific databases

HPAiHPA041957.
HPA058090.

Interactioni

Protein-protein interaction databases

BioGridi108169. 13 interactors.
IntActiP50443. 1 interactor.
MINTiMINT-5001062.
STRINGi9606.ENSP00000286298.

Structurei

3D structure databases

ProteinModelPortaliP50443.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini568 – 719STASPROSITE-ProRule annotationAdd BLAST152

Sequence similaritiesi

Contains 1 STAS domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0236. Eukaryota.
COG0659. LUCA.
GeneTreeiENSGT00760000119026.
HOGENOMiHOG000006546.
HOVERGENiHBG000639.
InParanoidiP50443.
KOiK14701.
OMAiYPRIHME.
OrthoDBiEOG091G07RT.
PhylomeDBiP50443.
TreeFamiTF313784.

Family and domain databases

Gene3Di3.30.750.24. 2 hits.
InterProiIPR018045. S04_transporter_CS.
IPR011547. SLC26A/SulP_dom.
IPR001902. SLC26A/SulP_fam.
IPR030280. SLC26A2.
IPR002645. STAS_dom.
[Graphical view]
PANTHERiPTHR11814. PTHR11814. 3 hits.
PTHR11814:SF16. PTHR11814:SF16. 3 hits.
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

        10         20         30         40         50
MSSESKEQHN VSPRDSAEGN DSYPSGIHLE LQRESSTDFK QFETNDQCRP
60 70 80 90 100
YHRILIERQE KSDTNFKEFV IKKLQKNCQC SPAKAKNMIL GFLPVLQWLP
110 120 130 140 150
KYDLKKNILG DVMSGLIVGI LLVPQSIAYS LLAGQEPVYG LYTSFFASII
160 170 180 190 200
YFLLGTSRHI SVGIFGVLCL MIGETVDREL QKAGYDNAHS APSLGMVSNG
210 220 230 240 250
STLLNHTSDR ICDKSCYAIM VGSTVTFIAG VYQVAMGFFQ VGFVSVYLSD
260 270 280 290 300
ALLSGFVTGA SFTILTSQAK YLLGLNLPRT NGVGSLITTW IHVFRNIHKT
310 320 330 340 350
NLCDLITSLL CLLVLLPTKE LNEHFKSKLK APIPIELVVV VAATLASHFG
360 370 380 390 400
KLHENYNSSI AGHIPTGFMP PKVPEWNLIP SVAVDAIAIS IIGFAITVSL
410 420 430 440 450
SEMFAKKHGY TVKANQEMYA IGFCNIIPSF FHCFTTSAAL AKTLVKESTG
460 470 480 490 500
CHTQLSGVVT ALVLLLVLLV IAPLFYSLQK SVLGVITIVN LRGALRKFRD
510 520 530 540 550
LPKMWSISRM DTVIWFVTML SSALLSTEIG LLVGVCFSIF CVILRTQKPK
560 570 580 590 600
SSLLGLVEES EVFESVSAYK NLQIKPGIKI FRFVAPLYYI NKECFKSALY
610 620 630 640 650
KQTVNPILIK VAWKKAAKRK IKEKVVTLGG IQDEMSVQLS HDPLELHTIV
660 670 680 690 700
IDCSAIQFLD TAGIHTLKEV RRDYEAIGIQ VLLAQCNPTV RDSLTNGEYC
710 720 730
KKEEENLLFY SVYEAMAFAE VSKNQKGVCV PNGLSLSSD
Length:739
Mass (Da):81,662
Last modified:July 28, 2009 - v2
Checksum:i577984D0E973087F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti619R → G in CAE45819 (PubMed:17974005).Curated1
Sequence conflicti622K → R in BAG35488 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007434255G → E in AO2. 1 PublicationCorresponds to variant rs104893917dbSNPEnsembl.1
Natural variantiVAR_066835256F → S in EDM4. 1 Publication1
Natural variantiVAR_007435279R → W in AO2 and EDM4. 2 PublicationsCorresponds to variant rs104893915dbSNPEnsembl.1
Natural variantiVAR_007436340Missing in ACG1B. 1 Publication1
Natural variantiVAR_007437425N → D in ACG1B. 1 PublicationCorresponds to variant rs104893920dbSNPEnsembl.1
Natural variantiVAR_018654454Q → P in diatrophic dysplasia; broad bone-platyspondylic variant. 1 PublicationCorresponds to variant rs104893921dbSNPEnsembl.1
Natural variantiVAR_058415574I → T.3 PublicationsCorresponds to variant rs30832dbSNPEnsembl.1
Natural variantiVAR_018655653C → S in EDM4. 2 PublicationsCorresponds to variant rs104893924dbSNPEnsembl.1
Natural variantiVAR_007438678G → V in ACG1B. 1 PublicationCorresponds to variant rs104893916dbSNPEnsembl.1
Natural variantiVAR_020402689T → S.Corresponds to variant rs3776070dbSNPEnsembl.1
Natural variantiVAR_007439715A → V in AO2 and EDM4. 2 PublicationsCorresponds to variant rs104893918dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
XP_016864680.1. XM_017009191.1.
UniGeneiHs.302738.

Genome annotation databases

EnsembliENST00000286298; ENSP00000286298; ENSG00000155850.
GeneIDi1836.
KEGGihsa:1836.
UCSCiuc003lrh.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
XP_016864680.1. XM_017009191.1.
UniGeneiHs.302738.

3D structure databases

ProteinModelPortaliP50443.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108169. 13 interactors.
IntActiP50443. 1 interactor.
MINTiMINT-5001062.
STRINGi9606.ENSP00000286298.

Protein family/group databases

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

PTM databases

iPTMnetiP50443.
PhosphoSitePlusiP50443.
SwissPalmiP50443.

Polymorphism and mutation databases

BioMutaiSLC26A2.
DMDMi254763328.

Proteomic databases

EPDiP50443.
MaxQBiP50443.
PaxDbiP50443.
PeptideAtlasiP50443.
PRIDEiP50443.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000286298; ENSP00000286298; ENSG00000155850.
GeneIDi1836.
KEGGihsa:1836.
UCSCiuc003lrh.4. human.

Organism-specific databases

CTDi1836.
DisGeNETi1836.
GeneCardsiSLC26A2.
GeneReviewsiSLC26A2.
H-InvDBHIX0005307.
HGNCiHGNC:10994. SLC26A2.
HPAiHPA041957.
HPA058090.
MalaCardsiSLC26A2.
MIMi222600. phenotype.
226900. phenotype.
256050. phenotype.
600972. phenotype.
606718. gene.
neXtProtiNX_P50443.
OpenTargetsiENSG00000155850.
Orphaneti93298. Achondrogenesis type 1B.
56304. Atelosteogenesis type II.
628. Diastrophic dwarfism.
93307. Multiple epiphyseal dysplasia type 4.
PharmGKBiPA149.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0236. Eukaryota.
COG0659. LUCA.
GeneTreeiENSGT00760000119026.
HOGENOMiHOG000006546.
HOVERGENiHBG000639.
InParanoidiP50443.
KOiK14701.
OMAiYPRIHME.
OrthoDBiEOG091G07RT.
PhylomeDBiP50443.
TreeFamiTF313784.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000155850-MONOMER.
ReactomeiR-HSA-174362. Transport and synthesis of PAPS.
R-HSA-427601. Multifunctional anion exchangers.

Miscellaneous databases

ChiTaRSiSLC26A2. human.
GeneWikiiSLC26A2.
GenomeRNAii1836.
PROiP50443.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000155850.
CleanExiHS_SLC26A2.
ExpressionAtlasiP50443. baseline and differential.
GenevisibleiP50443. HS.

Family and domain databases

Gene3Di3.30.750.24. 2 hits.
InterProiIPR018045. S04_transporter_CS.
IPR011547. SLC26A/SulP_dom.
IPR001902. SLC26A/SulP_fam.
IPR030280. SLC26A2.
IPR002645. STAS_dom.
[Graphical view]
PANTHERiPTHR11814. PTHR11814. 3 hits.
PTHR11814:SF16. PTHR11814:SF16. 3 hits.
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]
ProtoNetiSearch...

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: November 30, 2016
This is version 169 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.