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SLC26A2 solute carrier family 26 member 2 [ Homo sapiens (human) ]

Gene ID: 1836, updated on 14-Nov-2024

Summary

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Official Symbol
SLC26A2provided by HGNC
Official Full Name
solute carrier family 26 member 2provided by HGNC
Primary source
HGNC:HGNC:10994
See related
Ensembl:ENSG00000155850 MIM:606718; AllianceGenome:HGNC:10994
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DTD; EDM4; DTDST; MST153; D5S1708; MSTP157
Summary
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]
Expression
Biased expression in colon (RPKM 149.1), adrenal (RPKM 20.2) and 3 other tissues See more
Orthologs
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Genomic context

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See SLC26A2 in Genome Data Viewer
Location:
5q32
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (149960758..149987400)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150497305..150523943)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149340321..149366963)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene PPARG coactivator 1 beta Neighboring gene microRNA 378a Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149138890-149139607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149143045-149143915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149152433-149153272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23389 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149183799-149184608 Neighboring gene NFE2L2 motif-containing MPRA enhancer 202 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:149195389 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149198738-149199254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23391 Neighboring gene phosphodiesterase 6A Neighboring gene Sharpr-MPRA regulatory region 12732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149318171-149318672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149318673-149319172 Neighboring gene Sharpr-MPRA regulatory region 12514 Neighboring gene NANOG hESC enhancer GRCh37_chr5:149338737-149339340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16504 Neighboring gene MFF pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23393 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:149379441-149380229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23394 Neighboring gene tigger transposable element derived 6 Neighboring gene HMG-box containing 3 Neighboring gene ribosomal protein S20 pseudogene 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation. Pecora F, et al. Biochem J, 2006 Sep 15. PMID 16719839, Free PMC Article
  2. A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. Zechi-Ceide RM, et al. Am J Med Genet A, 2013 Aug. PMID 23840040
  3. New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. Czarny-Ratajczak M, et al. Am J Med Genet A, 2010 Dec. PMID 21077204
  4. Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Dwyer E, et al. Am J Med Genet A, 2010 Dec. PMID 21077202
  5. Epigenetic silencing of the sulfate transporter gene DTDST induces sialyl Lewisx expression and accelerates proliferation of colon cancer cells. Yusa A, et al. Cancer Res, 2010 May 15. PMID 20460514

See all (77) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia].
    Title: [Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia].
  2. Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
    Title: Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
  3. Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
    Title: Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
  4. Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
    Title: Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
  5. Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.
    Title: Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.
  6. Molecular analysis revealed that patient I is heterozygous for two known pathogenic variants in SLC26A2, a splice site variant c.-26+2T > C and a missense variant c.1957T > A (p.Cys653Ser), while patient II is compound heterozygous for missense variants c.835C > T (p.Arg279Trp) and c.1535C > A (p.Thr512Lys)
    Title: Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.
  7. N-glycosylation plays three roles in the functional expression of SLC26 proteins: (1) to retain misfolded proteins in the endoplamic reticulum, (2) to stabilize the protein at the cell surface, and (3) to maintain the transport protein in a functional state.
    Title: Role of N-glycosylation in the expression of human SLC26A2 and A3 anion transport membrane glycoproteins (1).
  8. Data identified two novel mutations in SLC26A2 gene: c.824 T > C and c.1198C > T in two siblings multiple epiphyseal dysplasia 4 within a Chinese family. Both mutations were inherited from both parents, one mutation from each.
    Title: Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.
  9. Two heterozygous mutations in SLC26A2 mutations occur in a three-generational family with cases of multiple epiphyseal dysplasias.
    Title: Multiple SLC26A2 mutations occurring in a three-generational family.
  10. Molecular analysis of human solute carrier SLC26A2, SLC26A3, and SLC26A4 anion transporter disease-causing mutations using 3-dimensional homology modeling has been presented.
    Title: Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables bicarbonate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chloride transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables oxalate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables secondary active sulfate transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables solute:inorganic anion antiporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sulfate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sulfate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables sulfate transmembrane transporter activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in bicarbonate transport IEA
Inferred from Electronic Annotation
more info
  
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in chondrocyte proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in ossification IEA
Inferred from Electronic Annotation
more info
  
involved_in oxalate transport IEA
Inferred from Electronic Annotation
more info
  
involved_in sulfate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sulfate transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sulfate transmembrane transport TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in microvillus membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
sulfate transporter
Names
diastrophic dysplasia protein
solute carrier family 26 (anion exchanger), member 2
solute carrier family 26 (sulfate transporter), member 2
sulfate anion transporter 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007147.2 RefSeqGene

    Range
    1855..28518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_684

mRNA and Protein(s)

  1. NM_000112.4 → NP_000103.2  sulfate transporter

    See identical proteins and their annotated locations for NP_000103.2

    Status: REVIEWED

    Source sequence(s)
    AC008427, AW089339, BC059390
    Consensus CDS
    CCDS4300.1
    UniProtKB/Swiss-Prot
    A8K2U3, B2R6J1, P50443, Q6N051
    Related
    ENSP00000286298.4, ENST00000286298.5
    Conserved Domains (2) summary
    cd06844
    Location:570 → 707
    STAS; Sulphate Transporter and Anti-Sigma factor antagonist domain found in the C-terminal region of sulphate transporters as well as in bacterial and archaeal proteins involved in the regulation of sigma factors
    TIGR00815
    Location:94 → 715
    sulP; high affinity sulphate transporter 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    149960758..149987400
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009191.3 → XP_016864680.1  sulfate transporter isoform X1

    UniProtKB/Swiss-Prot
    A8K2U3, B2R6J1, P50443, Q6N051
    Conserved Domains (2) summary
    cd06844
    Location:570 → 707
    STAS; Sulphate Transporter and Anti-Sigma factor antagonist domain found in the C-terminal region of sulphate transporters as well as in bacterial and archaeal proteins involved in the regulation of sigma factors
    TIGR00815
    Location:94 → 715
    sulP; high affinity sulphate transporter 1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    150497305..150523943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351957.1 → XP_054207932.1  sulfate transporter isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50443.2 GenPept UniProtKB/Swiss-Prot:P50443

Gene LinkOut

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