Slc26a4 solute carrier family 26, member 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc26a4provided by MGI
Official Full Name: solute carrier family 26, member 4provided by MGI
Primary source: MGI:MGI:1346029
See related: Ensembl:ENSMUSG00000020651 AllianceGenome:MGI:1346029
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pds; pendrin
Summary: Enables chloride:bicarbonate antiporter activity. Involved in regulation of pH and regulation of protein localization. Located in apical plasma membrane and brush border membrane. Is expressed in central nervous system; inner ear; and metanephros. Used to study Pendred Syndrome. Human ortholog(s) of this gene implicated in Pendred Syndrome; autosomal recessive nonsyndromic deafness 4; and goiter. Orthologous to human SLC26A4 (solute carrier family 26 member 4). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in kidney adult (RPKM 9.5), adrenal adult (RPKM 0.9) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 A2; 12 13.53 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (31569813..31610054, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (31519814..31560055, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pendrin: linking acid base to blood pressure.
Title: Pendrin: linking acid base to blood pressure.
Angiotensin II acts through Rac1 to upregulate pendrin: role of NADPH oxidase.
Title: Angiotensin II acts through Rac1 to upregulate pendrin: role of NADPH oxidase.
SLC26A4-AS1 Aggravates AngII-induced Cardiac Hypertrophy by Enhancing SLC26A4 Expression.
Title: SLC26A4-AS1 Aggravates AngII-induced Cardiac Hypertrophy by Enhancing SLC26A4 Expression.
Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4[-/-] mouse.
Title: Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4(-/-) mouse.
Pendrin abundance, subcellular distribution, and function are unaffected by either alphaENaC gene ablation or by increasing ENaC channel activity.
Title: Pendrin abundance, subcellular distribution, and function are unaffected by either αENaC gene ablation or by increasing ENaC channel activity.
The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice.
Title: The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice.
Type II alveolar epithelial cell-specific loss of RhoA exacerbates allergic airway inflammation through SLC26A4.
Title: Type II alveolar epithelial cell-specific loss of RhoA exacerbates allergic airway inflammation through SLC26A4.
Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene.
Title: Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene.
A mouse model for benign paroxysmal positional vertigo with genetic predisposition for displaced otoconia.
Title: A mouse model for benign paroxysmal positional vertigo with genetic predisposition for displaced otoconia.
Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model.
Title: Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model.

Submit: New GeneRIF Correction See all GeneRIFs (68)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (7) 1 citation
Spontaneous (1)
Targeted (5) 1 citation

General gene information

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Markers

D12Mit59 (e-PCR), detects polymorphism
- UniSTS:116630

Slc26a4 (e-PCR), detects polymorphism
- UniSTS:545998

Slc26a4 (e-PCR), detects polymorphism
- UniSTS:527066

Gene Ontology Provided by MGI

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 chloride transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables chloride:bicarbonate antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride:bicarbonate antiporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables chloride:bicarbonate antiporter activity	ISO Inferred from Sequence Orthology more info
enables iodide transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables iodide transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables monoatomic anion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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 secondary active sulfate transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables sulfate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within animal organ morphogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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 inorganic anion transport	ISO Inferred from Sequence Orthology more info
involved_in iodide transport	IEA Inferred from Electronic Annotation more info
involved_in iodide transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of pH	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sulfate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sulfate transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pendrin

Names: sodium-independent chloride/iodide transporter

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.