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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 Ib and Epiphyseal Dysplasia, Multiple, 4. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and 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 SLC26A1.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F149903 1.1 FANTOM5 Ensembl ENCODE 22.5 -56.2 -56211 1.3 CTCF KLF1 ESRRA CEBPG RAD21 RARA ZFHX2 GATA3 NR2F6 EGR2 SLC26A2 ENSG00000200334 PDE6A HMGXB3 CSNK1A1 GC05P149904 GC05P149920
GH05F149935 1.5 FANTOM5 Ensembl ENCODE 16.8 -19.4 -19403 12.4 HDGF PKNOX1 MLX ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 SLC26A2 PPARGC1B CSNK1A1 CD74 HMGXB3 ENSG00000200334 GC05M149941 PDE6A
GH05F149956 1 FANTOM5 ENCODE 15.2 -1.1 -1088 6.7 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 YY1 ZNF143 HMGXB3 ZNF300 RPL7P1 ZNF300P1 TIGD6 ENSG00000248696 SLC26A2 LOC644762 RPS20P4 RPS14
GH05F149856 1.2 Ensembl ENCODE 11.3 -102.9 -102924 1.7 CTCF ZNF687 MNT NR3C1 RAD21 CTBP1 GATA3 POLR2A SLC26A2 HMGXB3 TIGD6 GC05P149853 GC05M149853
GH05F149912 0.8 Ensembl ENCODE 11.2 -46.7 -46737 2.2 JUN HMBOX1 MGA EGR2 SLC26A2 TIGD6 GC05P149920 GC05P149904
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001293705 363 2201 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A YY1 ZNF143 ZNF207 FOS

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

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

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.

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 IEA,TAS --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8528239
GO:0016020 membrane IEA,TAS 8528239
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23533145
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:0006810 transport IEA --
GO:0006811 ion transport IEA,TAS --
GO:0008272 sulfate transport IEA,TAS 7923357
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

(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

Unigene Clusters for SLC26A2 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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, MaxQB, and MOPED for SLC26A2 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC26A2 Gene:

SLC26A2

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

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
chimpanzee
(Pan troglodytes)
Mammalia SLC26A2 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia SLC26A2 34 35
  • 89.63 (n)
cow
(Bos Taurus)
Mammalia SLC26A2 34 35
  • 87.16 (n)
mouse
(Mus musculus)
Mammalia Slc26a2 34 16 35
  • 83.45 (n)
rat
(Rattus norvegicus)
Mammalia Slc26a2 34
  • 83.36 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC26A2 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC26A2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC26A2 34 35
  • 70.94 (n)
lizard
(Anolis carolinensis)
Reptilia SLC26A2 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494417 34
  • 66.12 (n)
Str.13442 34
zebrafish
(Danio rerio)
Actinopterygii slc26a2 34 35
  • 60.88 (n)
sbcb565 34
fruit fly
(Drosophila melanogaster)
Insecta CG5485 36
  • 29 (a)
Prestin 35
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K12G11.2 36
  • 35 (a)
W04G3.6 36
  • 35 (a)
K12G11.1 36
  • 33 (a)
W01B11.2 36
  • 33 (a)
sulp-7 35
  • 32 (a)
ManyToMany
sulp-8 35
  • 32 (a)
ManyToMany
ZK287.2 36
  • 31 (a)
sulp-5 35
  • 31 (a)
ManyToMany
F14D12.5 36
  • 29 (a)
sulp-2 35
  • 29 (a)
ManyToMany
sulp-4 35
  • 29 (a)
ManyToMany
F41D9.5 36
  • 27 (a)
sulp-3 35
  • 26 (a)
ManyToMany
sulp-6 35
  • 26 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUL1 35
  • 17 (a)
ManyToMany
SUL2 35
  • 16 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons SULTR3;4 34
  • 43.67 (n)
rice
(Oryza sativa)
Liliopsida Os06g0143700 34
  • 42.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
ManyToMany
-- 35
  • 33 (a)
ManyToMany
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

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
rs104893915 Atelosteogenesis 2 (AO2) [MIM:256050], Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900], Pathogenic 149,980,428(+) TTCCT(C/T)GGACT reference, missense
rs104893916 Achondrogenesis 1B (ACG1B) [MIM:600972], Pathogenic 149,981,626(+) CATTG(G/T)AATCC reference, missense
rs104893917 Atelosteogenesis 2 (AO2) [MIM:256050], Pathogenic 149,980,357(+) GAGTG(A/G)ATTTG reference, missense
rs104893918 Atelosteogenesis 2 (AO2) [MIM:256050], Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900], Pathogenic 149,981,737(+) TGAAG(C/T)GATGG reference, missense
rs104893920 Achondrogenesis 1B (ACG1B) [MIM:600972], Pathogenic 149,980,866(+) TTTGT(A/G)ATATC reference, missense

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)

Relevant External Links for SLC26A2 Gene

Human Gene Mutation Database (HGMD)
SLC26A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • multiple epiphyseal dysplasia 4
diastrophic dysplasia
  • diastrophic dysplasia, broad bone-platyspondylic variant
atelosteogenesis ii
  • de la chapelle dysplasia
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 -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 22 46 64
  2. Positive association of SLC26A2 gene polymorphisms with susceptibility to systemic-onset juvenile idiopathic arthritis. (PMID: 17393463) Lamb R. … Donn R. (Arthritis Rheum. 2007) 3 22 46 64
  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. (Eur. J. Hum. Genet. 2005) 3 22 46 64
  4. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. (PMID: 12966518) Maekitie O. … Cole W.G. (Am. J. Med. Genet. A 2003) 3 4 22 64
  5. Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia? (PMID: 12193993) Remes V.M. … Peltonen J.I. (Eur Spine J 2002) 3 22 46 64

Products for SLC26A2 Gene

Sources for SLC26A2 Gene

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