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

Summary

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Expression of SLC26A9 in Airways and Its Potential Role in Asthma.
Title: Expression of SLC26A9 in Airways and Its Potential Role in Asthma.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genetic modifiers of cystic fibrosis-related diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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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 more info	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)

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
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

205913052..205943456 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060925.1 Alternate T2T-CHM13v2.0

Range

205177732..205208143 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054334141.1 → XP_054190116.1 solute carrier family 26 member 9 isoform X1
XM_054334142.1 → XP_054190117.1 solute carrier family 26 member 9 isoform X2
XM_054334143.1 → XP_054190118.1 solute carrier family 26 member 9 isoform X3
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

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.