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

Summary

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: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[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].
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.
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
Title: Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 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.
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.
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.
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).
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.
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.
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

Associated conditions

Description	Tests
Achondrogenesis, type IB MedGen: C0265274 OMIM: 600972 GeneReviews: Achondrogenesis Type 1B	Compare labs
Atelosteogenesis type II MedGen: C1850554 OMIM: 256050 GeneReviews: Atelosteogenesis Type 2	Compare labs
Diastrophic dysplasia MedGen: C0220726 OMIM: 222600 GeneReviews: Diastrophic Dysplasia	Compare labs
Multiple epiphyseal dysplasia type 4 MedGen: C1847593 OMIM: 226900 GeneReviews: SLC26A2-Related Multiple Epiphyseal Dysplasia	Compare labs
Sulfate transporter-related osteochondrodysplasia MedGen: CN120497 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70569 (e-PCR)
- UniSTS:59648

RH65249 (e-PCR)
- UniSTS:77596

D8S2279 (e-PCR)
- UniSTS:473907

D5S2618 (e-PCR)
- UniSTS:77393

D5S2656 (e-PCR)
- UniSTS:20567

D10S16 (e-PCR)
- UniSTS:155756

SLC26A2_830 (e-PCR)
- UniSTS:277738

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 chloride transmembrane transport	IEA Inferred from Electronic Annotation 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 more info	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

NG_007147.2 RefSeqGene

Range

1855..28518

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_684

mRNA and Protein(s)

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

149960758..149987400

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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