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Aliases for SLC26A2 Gene

Aliases for SLC26A2 Gene

  • Solute Carrier Family 26 Member 2 2 3 4
  • Solute Carrier Family 26 (Anion Exchanger), Member 2 2 3 5
  • Solute Carrier Family 26 (Sulfate Transporter), Member 2 2 3
  • Diastrophic Dysplasia Protein 3 4
  • DTDST 3 4
  • DTD 3 4
  • Sulfate Anion Transporter 1 3
  • D5S1708 3
  • MSTP157 3
  • MST153 3
  • EDM4 3

External Ids for SLC26A2 Gene

Previous HGNC Symbols for SLC26A2 Gene

  • DTD

Previous GeneCards Identifiers for SLC26A2 Gene

  • GC05P149428
  • GC05P149323
  • GC05P149385
  • GC05P149320
  • GC05P144488

Summaries for SLC26A2 Gene

Entrez Gene Summary for SLC26A2 Gene

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

GeneCards Summary for SLC26A2 Gene

SLC26A2 (Solute Carrier Family 26 Member 2) is a Protein Coding gene. Diseases associated with SLC26A2 include achondrogenesis ib and epiphyseal dysplasia, multiple, 4. Among its related pathways are Phase II conjugation and Glycosaminoglycan metabolism. GO annotations related to this gene include secondary active sulfate transmembrane transporter activity and sulfate transmembrane transporter activity. An important paralog of this gene is SLC26A9.

UniProtKB/Swiss-Prot for SLC26A2 Gene

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

Gene Wiki entry for SLC26A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC26A2 Gene

Genomics for SLC26A2 Gene

Regulatory Elements for SLC26A2 Gene

Enhancers for SLC26A2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC26A2 on UCSC Golden Path with GeneCards custom track

Promoters for SLC26A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC26A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC26A2 Gene

Chromosome:
5
Start:
149,960,737 bp from pter
End:
149,993,455 bp from pter
Size:
32,719 bases
Orientation:
Plus strand

Genomic View for SLC26A2 Gene

Genes around SLC26A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC26A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC26A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC26A2 Gene

Proteins for SLC26A2 Gene

  • Protein details for SLC26A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50443-S26A2_HUMAN
    Recommended name:
    Sulfate transporter
    Protein Accession:
    P50443
    Secondary Accessions:
    • A8K2U3
    • B2R6J1
    • Q6N051

    Protein attributes for SLC26A2 Gene

    Size:
    739 amino acids
    Molecular mass:
    81662 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC26A2 Gene

Proteomics data for SLC26A2 Gene at MOPED

Post-translational modifications for SLC26A2 Gene

  • Ubiquitination at Lys 40
  • Glycosylation at Asn 199, Asn 205, and Asn 357
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC26A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC26A2 Gene

Domains & Families for SLC26A2 Gene

Gene Families for SLC26A2 Gene

Protein Domains for SLC26A2 Gene

Suggested Antigen Peptide Sequences for SLC26A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P50443

UniProtKB/Swiss-Prot:

S26A2_HUMAN :
  • Contains 1 STAS domain.
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
Domain:
  • Contains 1 STAS domain.
Family:
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
genes like me logo Genes that share domains with SLC26A2: view

Function for SLC26A2 Gene

Molecular function for SLC26A2 Gene

GENATLAS Biochemistry:
solute carrier family 26,member A2,sulfate,chloride,oxalate transporter,with homology to rat sat-1,ubiquitously expressed,involved in proteoglycan sulfate activation
UniProtKB/Swiss-Prot Function:
Sulfate transporter. May play a role in endochondral bone formation.
genes like me logo Genes that share phenotypes with SLC26A2: view

Human Phenotype Ontology for SLC26A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for SLC26A2 Gene

miRTarBase miRNAs that target SLC26A2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC26A2 Gene

Localization for SLC26A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC26A2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC26A2 Gene COMPARTMENTS Subcellular localization image for SLC26A2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
peroxisome 2
vacuole 1

Gene Ontology (GO) - Cellular Components for SLC26A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA,TAS 8528239
genes like me logo Genes that share ontologies with SLC26A2: view

Pathways & Interactions for SLC26A2 Gene

genes like me logo Genes that share pathways with SLC26A2: view

Interacting Proteins for SLC26A2 Gene

Gene Ontology (GO) - Biological Process for SLC26A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0006805 xenobiotic metabolic process TAS --
GO:0019532 oxalate transport IBA --
GO:0042391 regulation of membrane potential IBA --
GO:0050427 3-phosphoadenosine 5-phosphosulfate metabolic process TAS --
genes like me logo Genes that share ontologies with SLC26A2: view

No data available for SIGNOR curated interactions for SLC26A2 Gene

Drugs & Compounds for SLC26A2 Gene

(2) Drugs for SLC26A2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for SLC26A2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Sulfate
  • Sulfate (ion 2-)
  • Sulfate anion
  • Sulfate anion(2-)
  • Sulfate dianion
  • Sulfate ion
14808-79-8
genes like me logo Genes that share compounds with SLC26A2: view

Transcripts for SLC26A2 Gene

mRNA/cDNA for SLC26A2 Gene

Unigene Clusters for SLC26A2 Gene

Solute carrier family 26 (sulfate transporter), member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A2 Gene

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

Relevant External Links for SLC26A2 Gene

GeneLoc Exon Structure for
SLC26A2
ECgene alternative splicing isoforms for
SLC26A2

Expression for SLC26A2 Gene

mRNA expression in normal human tissues for SLC26A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC26A2 Gene

This gene is overexpressed in Colon - Transverse (x21.2) and Minor Salivary Gland (x4.7).

Protein differential expression in normal tissues from HIPED for SLC26A2 Gene

This gene is overexpressed in Cerebral cortex (31.7), Colon (15.7), Placenta (7.0), and Fetal gut (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC26A2 Gene



SOURCE GeneReport for Unigene cluster for SLC26A2 Gene Hs.302738

mRNA Expression by UniProt/SwissProt for SLC26A2 Gene

P50443-S26A2_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with SLC26A2: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for SLC26A2 Gene

Orthologs for SLC26A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC26A2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC26A2 35
  • 87.16 (n)
  • 82.92 (a)
SLC26A2 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC26A2 35
  • 89.63 (n)
  • 87.28 (a)
SLC26A2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc26a2 35
  • 83.45 (n)
  • 80.92 (a)
Slc26a2 16
Slc26a2 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC26A2 35
  • 99.68 (n)
  • 99.32 (a)
SLC26A2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc26a2 35
  • 83.36 (n)
  • 81.06 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC26A2 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC26A2 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC26A2 35
  • 70.94 (n)
  • 72.3 (a)
SLC26A2 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC26A2 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494417 35
  • 66.12 (n)
  • 67.85 (a)
Str.13442 35
zebrafish
(Danio rerio)
Actinopterygii sbcb565 35
slc26a2 35
  • 60.88 (n)
  • 58.75 (a)
slc26a2 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5485 37
  • 29 (a)
Prestin 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F14D12.5 37
  • 29 (a)
F41D9.5 37
  • 27 (a)
K12G11.1 37
  • 33 (a)
K12G11.2 37
  • 35 (a)
W01B11.2 37
  • 33 (a)
W04G3.6 37
  • 35 (a)
ZK287.2 37
  • 31 (a)
sulp-2 36
  • 29 (a)
ManyToMany
sulp-3 36
  • 26 (a)
ManyToMany
sulp-4 36
  • 29 (a)
ManyToMany
sulp-5 36
  • 31 (a)
ManyToMany
sulp-6 36
  • 26 (a)
ManyToMany
sulp-7 36
  • 32 (a)
ManyToMany
sulp-8 36
  • 32 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUL1 36
  • 17 (a)
ManyToMany
SUL2 36
  • 16 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons SULTR3;4 35
  • 43.67 (n)
  • 29.19 (a)
rice
(Oryza sativa)
Liliopsida Os06g0143700 35
  • 42.66 (n)
  • 28.84 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
ManyToMany
-- 36
  • 33 (a)
ManyToMany
Species with no ortholog for SLC26A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC26A2 Gene

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

Paralogs for SLC26A2 Gene

(12) SIMAP similar genes for SLC26A2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC26A2: view

Variants for SLC26A2 Gene

Sequence variations from dbSNP and Humsavar for SLC26A2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_007434 Atelosteogenesis 2 (AO2)
rs104893915 Atelosteogenesis 2 (AO2), Multiple epiphyseal dysplasia 4 (EDM4) 149,980,428(+) TTCCT(C/T)GGACT reference, missense
VAR_007437 Achondrogenesis 1B (ACG1B)
VAR_007438 Achondrogenesis 1B (ACG1B)
VAR_007439 Atelosteogenesis 2 (AO2)

Structural Variations from Database of Genomic Variants (DGV) for SLC26A2 Gene

Variant ID Type Subtype PubMed ID
esv24664 CNV Gain+Loss 19812545
nsv830518 CNV Loss 17160897

Variation tolerance for SLC26A2 Gene

Residual Variation Intolerance Score: 39.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.28; 76.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC26A2 Gene

HapMap Linkage Disequilibrium report
SLC26A2
Human Gene Mutation Database (HGMD)
SLC26A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC26A2 Gene

Disorders for SLC26A2 Gene

MalaCards: The human disease database

(34) MalaCards diseases for SLC26A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
achondrogenesis ib
  • achondrogenesis type ib
epiphyseal dysplasia, multiple, 4
  • edm4
atelosteogenesis ii
  • de la chapelle dysplasia
diastrophic dysplasia
  • diastrophic dysplasia, broad bone-platyspondylic variant
multiple epiphyseal dysplasia, recessive
  • epiphyseal dysplasia, multiple, 4
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S26A2_HUMAN
  • 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. {ECO:0000269 PubMed:8528239}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atelosteogenesis 2 (AO2) [MIM:256050]: A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth. {ECO:0000269 PubMed:8571951}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Diastrophic dysplasia (DTD) [MIM:222600]: An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. {ECO:0000269 PubMed:10466420}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature is not frequent. {ECO:0000269 PubMed:12966518, ECO:0000269 PubMed:21922596}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC26A2

Genetic Association Database (GAD)
SLC26A2
Human Genome Epidemiology (HuGE) Navigator
SLC26A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC26A2
genes like me logo Genes that share disorders with SLC26A2: view

No data available for Genatlas for SLC26A2 Gene

Publications for SLC26A2 Gene

  1. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. (PMID: 7923357) Haestbacka J. … Lander E.S. (Cell 1994) 2 3 4 67
  2. Epigenetic silencing of the sulfate transporter gene DTDST induces sialyl Lewisx expression and accelerates proliferation of colon cancer cells. (PMID: 20460514) Yusa A. … Kannagi R. (Cancer Res. 2010) 3 23
  3. The -9247 T/C polymorphism in the SOST upstream regulatory region that potentially affects C/EBPalpha and FOXA1 binding is associated with osteoporosis. (PMID: 19371798) Huang Q.Y. … Kung A.W. (Bone 2009) 3 23
  4. A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. (PMID: 18708426) BonafAc L. … Rossi A. (J. Med. Genet. 2008) 3 23
  5. Positive association of SLC26A2 gene polymorphisms with susceptibility to systemic-onset juvenile idiopathic arthritis. (PMID: 17393463) Lamb R. … Donn R. (Arthritis Rheum. 2007) 3 23

Products for SLC26A2 Gene

Sources for SLC26A2 Gene

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