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Aliases for SLC26A2 Gene

Aliases for SLC26A2 Gene

  • Solute Carrier Family 26 (Anion Exchanger), Member 2 2 3
  • DTDST 3 4 6
  • DTD 3 4 6
  • Solute Carrier Family 26 (Sulfate Transporter), Member 2 2 3
  • Diastrophic Dysplasia Protein 3 4
  • D5S1708 3 6
  • EDM4 3 6
  • Solute Carrier Family 26 Member 2 4
  • Sulfate Anion Transporter 1 3
  • Sulfate Transporter 3
  • MSTP157 3
  • MST153 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 (Anion Exchanger), Member 2) is a Protein Coding gene. Diseases associated with SLC26A2 include diastrophic dysplasia and epiphyseal dysplasia, multiple, 4. Among its related pathways are Disease 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 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC26A2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys40
  • Glycosylation at Asn199, Asn205, and Asn357
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC26A2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC26A2 Gene

Domains for SLC26A2 Gene

Gene Families for SLC26A2 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

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 :
  • P50443
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:0008271 secondary active sulfate transmembrane transporter activity IEA --
GO:0015116 sulfate transmembrane transporter activity TAS 7923357
genes like me logo Genes that share ontologies with SLC26A2: view
genes like me logo Genes that share phenotypes with SLC26A2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC26A2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
plasma membrane 4
extracellular 2
peroxisome 2
cytosol 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 TAS 8528239
GO:0016021 integral component of membrane --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with SLC26A2: view

Pathways for SLC26A2 Gene

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

Pathways by source for SLC26A2 Gene

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:0005975 carbohydrate metabolic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0006811 ion transport TAS --
GO:0008272 sulfate transport TAS 7923357
genes like me logo Genes that share ontologies with SLC26A2: view

Compounds for SLC26A2 Gene

(1) HMDB Compounds for SLC26A2 Gene

Compound Synonyms Cas Number PubMed IDs
Sulfate
  • Sulfate (ion 2-)
14808-79-8

(8) Novoseek inferred chemical compound relationships for SLC26A2 Gene

Compound -log(P) Hits PubMed IDs
sulfate 86.2 69
chloride 51.9 4
oxalate 38.3 1
iodide 28.6 1
bicarbonate 28 3
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC26A2

Primer 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 (21.2) and Minor Salivary Gland (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, 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 expressions with SLC26A2: view

In Situ Assay Products

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 35
  • 99.68 (n)
  • 99.32 (a)
SLC26A2 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia SLC26A2 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC26A2 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc26a2 35
  • 83.36 (n)
  • 81.06 (a)
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 Prestin 36
  • 26 (a)
OneToMany
CG5485 37
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea 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
K12G11.2 37
  • 35 (a)
W04G3.6 37
  • 35 (a)
F14D12.5 37
  • 29 (a)
ZK287.2 37
  • 31 (a)
W01B11.2 37
  • 33 (a)
F41D9.5 37
  • 27 (a)
K12G11.1 37
  • 33 (a)
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

Selected 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 MAF
rs8073 -- 149,982,837(-) ATAGC(A/C)CTTGG utr-variant-3-prime
rs30831 -- 149,979,490(-) ATATT(A/G)GGAGG intron-variant
rs30832 - 149,981,314(-) GCTTA(A/G)TCTGA missense, reference
rs30833 -- 149,985,217(-) GGTCA(A/G/T)CCCAG utr-variant-3-prime
rs184960 -- 149,963,807(-) gccag(A/G)agttc intron-variant

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

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

(4) OMIM Diseases for SLC26A2 Gene (606718)

UniProtKB/Swiss-Prot

S26A2_HUMAN
  • 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. {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.
  • 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.

(15) Novoseek inferred disease relationships for SLC26A2 Gene

Disease -log(P) Hits PubMed IDs
diastrophic dysplasia 99 61
achondrogenesis, type ib 97.9 10
atelosteogenesis, type ii 97.2 7
multiple epiphyseal dysplasia 95.7 13
osteochondrodysplasias 89.5 3

Relevant External Links for SLC26A2

GeneTests
SLC26A2
GeneReviews
SLC26A2
Genetic Association Database (GAD)
SLC26A2
Human Genome Epidemiology (HuGE) Navigator
SLC26A2
genes like me logo Genes that share disorders with SLC26A2: view

Publications for SLC26A2 Gene

  1. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. (PMID: 8571951) Haestbacka J. … Lander E.S. (Am. J. Hum. Genet. 1996) 3 4 23
  2. Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. (PMID: 10466420) Megarbane A. … Superti-Furga A. (Clin. Genet. 1999) 3 4 23
  3. Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis. (PMID: 11558903) Ikeda T. … Ikegawa S. (J. Hum. Genet. 2001) 3 23 48
  4. 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 23 48
  5. 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 23 48

Products for SLC26A2 Gene

Sources for SLC26A2 Gene

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