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SLC26A9 solute carrier family 26 member 9 [ Homo sapiens (human) ]

Gene ID: 115019, updated on 27-Nov-2024

Summary

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Official Symbol
SLC26A9provided by HGNC
Official Full Name
solute carrier family 26 member 9provided by HGNC
Primary source
HGNC:HGNC:14469
See related
Ensembl:ENSG00000174502 MIM:608481; AllianceGenome:HGNC:14469
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
Summary
This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing isoforms.[provided by RefSeq, Dec 2008]
Expression
Biased expression in salivary gland (RPKM 19.0), stomach (RPKM 12.3) and 5 other tissues See more
Orthologs
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Genomic context

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See SLC26A9 in Genome Data Viewer
Location:
1q32.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205913052..205943456, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (205177732..205208143, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205882180..205912584, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985250 Neighboring gene PM20D1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr1:205839492-205839993 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205889161-205889692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205889693-205890223 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205897002-205897542 Neighboring gene SLC26A9 and RAB7B antisense RNA 1 Neighboring gene uncharacterized LOC103021295 Neighboring gene RAB7B, member RAS oncogene family

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. SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR. Eastman AC, et al. J Cyst Fibros, 2021 Sep. PMID 33674211, Free PMC Article
  2. Characterization of SLC26A9 in patients with CF-like lung disease. Bakouh N, et al. Hum Mutat, 2013 Oct. PMID 24272871
  3. Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis. Miller MR, et al. J Pediatr, 2015 May. PMID 25771386, Free PMC Article
  4. Generation and functional characterization of epithelial cells with stable expression of SLC26A9 Cl- channels. Salomon JJ, et al. Am J Physiol Lung Cell Mol Physiol, 2016 Apr 1. PMID 26801567, Free PMC Article
  5. Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics. Strug LJ, et al. Hum Mol Genet, 2016 Oct 15. PMID 28171547, Free PMC Article

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation.
    Title: The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation.
  2. The role of the STAS domain in SLC26A9 for chloride ion transporter function.
    Title: The role of the STAS domain in SLC26A9 for chloride ion transporter function.
  3. Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins.
    Title: Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins.
  4. Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi(R) (Lumacaftor and Ivacaftor) response in vitro.
    Title: Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro.
  5. SLC26A9 deficiency causes gastric intraepithelial neoplasia in mice and aggressive gastric cancer in humans.
    Title: SLC26A9 deficiency causes gastric intraepithelial neoplasia in mice and aggressive gastric cancer in humans.
  6. Expression of SLC26A9 in Airways and Its Potential Role in Asthma.
    Title: Expression of SLC26A9 in Airways and Its Potential Role in Asthma.
  7. SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR.
    Title: SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR.
  8. SLC26A9 is selected for endoplasmic reticulum associated degradation (ERAD) via Hsp70-dependent targeting of the soluble STAS domain.
    Title: SLC26A9 is selected for endoplasmic reticulum associated degradation (ERAD) via Hsp70-dependent targeting of the soluble STAS domain.
  9. Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.
    Title: Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.
  10. Synergy in Cystic Fibrosis Therapies: Targeting SLC26A9.
    Title: Synergy in Cystic Fibrosis Therapies: Targeting SLC26A9.
Submit: New GeneRIF Correction See all GeneRIFs (29)

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

EBI GWAS Catalog

Description
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
EBI GWAS Catalog
Genetic modifiers of cystic fibrosis-related diabetes.
EBI GWAS Catalog
Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
EBI GWAS Catalog

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables bicarbonate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chloride channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables chloride channel activity TAS
Traceable Author Statement
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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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
  
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chloride transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in monoatomic anion transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in monoatomic ion transport TAS
Traceable Author Statement
more info
  
involved_in oxalate transport IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sulfate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
solute carrier family 26 member 9
Names
anion transporter/exchanger protein 9
anion transporter/exchanger-9
solute carrier family 26 (anion exchanger), member 9

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.

mRNA and Protein(s)

  1. NM_052934.4 → NP_443166.1  solute carrier family 26 member 9 isoform a

    See identical proteins and their annotated locations for NP_443166.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript and encodes isoform a.
    Source sequence(s)
    AF314958, AF331525, BC037978
    Consensus CDS
    CCDS30990.1
    UniProtKB/Swiss-Prot
    A7E2V6, B1AVM8, B1AVM9, B7ZKK2, Q7LBE3, Q96PK9, Q96RN0
    Related
    ENSP00000356103.3, ENST00000367135.8
    Conserved Domains (2) summary
    cd07042
    Location:662 → 730
    STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
    TIGR00815
    Location:57 → 561
    sulP; high affinity sulphate transporter 1

  2. NM_134325.3 → NP_599152.2  solute carrier family 26 member 9 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment of sequence, compared to variant 1, which causes a frameshift. It encodes a protein (isoform b) with a longer C-terminus than isoform a.
    Source sequence(s)
    AF314958, AF331525, AK127491
    Consensus CDS
    CCDS30989.1
    UniProtKB/Swiss-Prot
    Q7LBE3
    UniProtKB/TrEMBL
    B3KXK1
    Related
    ENSP00000356102.2, ENST00000367134.2
    Conserved Domains (2) summary
    cd07042
    Location:662 → 730
    STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
    pfam00916
    Location:74 → 468
    Sulfate_transp; Sulfate permease family

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    205913052..205943456 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509121.3 → XP_011507423.1  solute carrier family 26 member 9 isoform X1

    Conserved Domains (2) summary
    cd07042
    Location:573 → 641
    STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
    pfam00916
    Location:1 → 379
    Sulfate_transp; Sulfate permease family

  2. XM_011509122.3 → XP_011507424.1  solute carrier family 26 member 9 isoform X2

    Conserved Domains (2) summary
    cd07042
    Location:498 → 566
    STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
    TIGR00815
    Location:8 → 397
    sulP; high affinity sulphate transporter 1

  3. XM_047443936.1 → XP_047299892.1  solute carrier family 26 member 9 isoform X3

  4. XM_011509124.3 → XP_011507426.1  solute carrier family 26 member 9 isoform X4

    Conserved Domains (1) summary
    pfam00916
    Location:74 → 466
    Sulfate_transp; Sulfate permease family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    205177732..205208143 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334141.1 → XP_054190116.1  solute carrier family 26 member 9 isoform X1

  2. XM_054334142.1 → XP_054190117.1  solute carrier family 26 member 9 isoform X2

  3. XM_054334143.1 → XP_054190118.1  solute carrier family 26 member 9 isoform X3

  4. XM_054334144.1 → XP_054190119.1  solute carrier family 26 member 9 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001142600.1: Suppressed sequence

    Description
    NM_001142600.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7LBE3.1 GenPept UniProtKB/Swiss-Prot:Q7LBE3

Gene LinkOut

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