Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC26A2 Gene

Aliases for SLC26A2 Gene

  • Solute Carrier Family 26 Member 2 2 3 4 5
  • Solute Carrier Family 26 (Sulfate Transporter), Member 2 2 3
  • Solute Carrier Family 26 (Anion Exchanger), Member 2 2 3
  • Diastrophic Dysplasia Protein 3 4
  • DTDST 3 4
  • DTD 3 4
  • Sulfate Anion Transporter 1 3
  • Sulfate Transporter 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, Type Ib and Epiphyseal Dysplasia, Multiple, 4. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (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 SLC26A1.

UniProtKB/Swiss-Prot for SLC26A2 Gene

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

Gene Wiki entry for SLC26A2 Gene

Additional gene information for SLC26A2 Gene

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

Genomics for SLC26A2 Gene

GeneHancer (GH) Regulatory Elements for SLC26A2 Gene

Promoters and enhancers for SLC26A2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I149956 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 565.2 -1.1 -1088 6.7 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 SLC26A2 PDE6A HMGXB3 TCOF1 ZNF300 ZNF300P1 TIGD6 RPL7P1 CSNK1A1 RPS20P4
GH05I149935 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.8 -19.4 -19403 12.4 PKNOX1 SMAD1 FOXA2 ARNT SIN3A FEZF1 POLR2B ZNF766 FOS JUNB ENSG00000200334 GC05M149941 PDE6A SLC26A2 PPARGC1B CSNK1A1 CD74 HMGXB3
GH05I149903 Enhancer 1 FANTOM5 ENCODE 22.5 -56.2 -56238 1.3 CTCF KLF1 CEBPG RARA ZFHX2 CTBP1 GATA3 NR2F6 ZNF444 EGR2 GC05P149903 GC05P149904 SLC26A2 TCOF1 ENSG00000200334 PDE6A HMGXB3 CSNK1A1 GC05P149920
GH05I149631 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.1 -326.6 -326569 5.8 HDGF ATF1 ARNT SIN3A IRF4 TCF12 ZNF121 ZNF766 GATA2 ZNF143 PIR47540 RNU6-588P SLC26A2 HMGXB3 TIGD6 ENSG00000200334 PDE6A CSF1R MIR143 CARMN
GH05I149930 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.9 -29.9 -29902 0.9 HDAC1 PKNOX1 ATF1 ARNT NFRKB ATF7 PHF21A ZBTB2 ZEB2 ATF4 SLC26A2 LOC644762 GC05P149922 PDE6A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC26A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC26A2 gene promoter:

Genomic Locations for SLC26A2 Gene

Genomic Locations for SLC26A2 Gene
32,719 bases
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:
    Recommended name:
    Sulfate transporter
    Protein Accession:
    Secondary Accessions:
    • A8K2U3
    • B2R6J1
    • Q6N051

    Protein attributes for SLC26A2 Gene

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

neXtProt entry for SLC26A2 Gene

Post-translational modifications for SLC26A2 Gene

  • Ubiquitination at posLast=4040
  • Glycosylation at isoforms=199, isoforms=205, and isoforms=357
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC26A2 Gene

No data available for DME Specific Peptides for SLC26A2 Gene

Domains & Families for SLC26A2 Gene

Gene Families for SLC26A2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for SLC26A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) 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.

Phenotypes From GWAS Catalog for SLC26A2 Gene

Gene Ontology (GO) - Molecular Function for SLC26A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IBA --
GO:0008271 secondary active sulfate transmembrane transporter activity IEA --
GO:0015106 bicarbonate transmembrane transporter activity IBA --
GO:0015116 sulfate transmembrane transporter activity TAS,IEA --
GO:0015301 anion:anion antiporter activity IBA --
genes like me logo Genes that share ontologies with SLC26A2: view
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

miRNA for SLC26A2 Gene

miRTarBase miRNAs that target SLC26A2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC26A2 Gene

Localization for SLC26A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC26A2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC26A2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC26A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP,TAS 7923357
GO:0016020 membrane IEA,TAS 8528239
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
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

Gene Ontology (GO) - Biological Process for SLC26A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA,TAS --
GO:0008272 sulfate transport IEA --
GO:0015701 bicarbonate transport IBA --
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

(3) Drugs for SLC26A2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

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

Transcripts for SLC26A2 Gene

Unigene Clusters for SLC26A2 Gene

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

Clone Products

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

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

Relevant External Links for SLC26A2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC26A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SLC26A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC26A2 Gene:


SOURCE GeneReport for Unigene cluster for SLC26A2 Gene:


mRNA Expression by UniProt/SwissProt for SLC26A2 Gene:

Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for SLC26A2 Gene

  • Nervous system(4.5)
  • Intestine(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC26A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • epiglottis
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • vocal cord
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
  • abdominal wall
  • intestine
  • kidney
  • liver
  • pelvis
  • placenta
  • uterus
  • vagina
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SLC26A2: view

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
(Pan troglodytes)
Mammalia SLC26A2 33 34
  • 99.68 (n)
(Canis familiaris)
Mammalia SLC26A2 33 34
  • 89.63 (n)
(Bos Taurus)
Mammalia SLC26A2 33 34
  • 87.16 (n)
(Mus musculus)
Mammalia Slc26a2 33 16 34
  • 83.45 (n)
(Rattus norvegicus)
Mammalia Slc26a2 33
  • 83.36 (n)
(Monodelphis domestica)
Mammalia SLC26A2 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia SLC26A2 34
  • 74 (a)
(Gallus gallus)
Aves SLC26A2 33 34
  • 70.94 (n)
(Anolis carolinensis)
Reptilia SLC26A2 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494417 33
  • 66.12 (n)
Str.13442 33
(Danio rerio)
Actinopterygii slc26a2 33 34
  • 60.88 (n)
sbcb565 33
fruit fly
(Drosophila melanogaster)
Insecta CG5485 35
  • 29 (a)
Prestin 34
  • 26 (a)
(Caenorhabditis elegans)
Secernentea K12G11.2 35
  • 35 (a)
W04G3.6 35
  • 35 (a)
K12G11.1 35
  • 33 (a)
W01B11.2 35
  • 33 (a)
sulp-7 34
  • 32 (a)
sulp-8 34
  • 32 (a)
ZK287.2 35
  • 31 (a)
sulp-5 34
  • 31 (a)
F14D12.5 35
  • 29 (a)
sulp-2 34
  • 29 (a)
sulp-4 34
  • 29 (a)
F41D9.5 35
  • 27 (a)
sulp-3 34
  • 26 (a)
sulp-6 34
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUL1 34
  • 17 (a)
SUL2 34
  • 16 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SULTR3;4 33
  • 43.67 (n)
(Oryza sativa)
Liliopsida Os06g0143700 33
  • 42.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
-- 34
  • 33 (a)
Species where no ortholog for SLC26A2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for SLC26A2 (if available)
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 Variation AA Info Type
rs1024069805 uncertain-significance, Osteochondrodysplasia, Multiple epiphyseal dysplasia 4, Atelosteogenesis, Diastrophic dysplasia, Achondrogenesis 149,982,266(+) G/A 3_prime_UTR_variant
rs1028298398 uncertain-significance, Osteochondrodysplasia, Achondrogenesis, Diastrophic dysplasia, Multiple epiphyseal dysplasia 4, Atelosteogenesis 149,981,866(+) C/G 3_prime_UTR_variant, intron_variant
rs1032072498 uncertain-significance, Multiple epiphyseal dysplasia 4, Achondrogenesis, Atelosteogenesis, Diastrophic dysplasia, Osteochondrodysplasia 149,984,256(+) A/G 3_prime_UTR_variant
rs1036276950 uncertain-significance, Multiple epiphyseal dysplasia 4, Diastrophic dysplasia, Osteochondrodysplasia, Achondrogenesis, Atelosteogenesis 149,983,816(+) A/G 3_prime_UTR_variant
rs1046710 likely-benign, Diastrophic dysplasia, Osteochondrodysplasia, Atelosteogenesis, Achondrogenesis, Multiple epiphyseal dysplasia 4 149,982,403(+) C/T 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
esv24664 CNV gain+loss 19812545
nsv476292 CNV novel sequence insertion 20440878
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)

Additional Variant Information for SLC26A2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SLC26A2 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards


  • 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.

Additional Disease Information for SLC26A2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 -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 QY … Kung AW (Bone 2009) 3 22 44 58
  2. Positive association of SLC26A2 gene polymorphisms with susceptibility to systemic-onset juvenile idiopathic arthritis. (PMID: 17393463) Lamb R … Donn R (Arthritis and rheumatism 2007) 3 22 44 58
  3. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. (PMID: 15523498) Jakkula E … Ala-Kokko L (European journal of human genetics : EJHG 2005) 3 22 44 58
  4. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. (PMID: 12966518) Mäkitie O … Cole WG (American journal of medical genetics. Part A 2003) 3 4 22 58
  5. Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? (PMID: 12193993) Remes VM … Peltonen JI (European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society 2002) 3 22 44 58

Products for SLC26A2 Gene

Sources for SLC26A2 Gene

Loading form....