SLC26A4 solute carrier family 26 member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC26A4provided by HGNC
Official Full Name: solute carrier family 26 member 4provided by HGNC
Primary source: HGNC:HGNC:8818
See related: Ensembl:ENSG00000091137 MIM:605646; AllianceGenome:HGNC:8818
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: EVA; PDS; DFNB4; TDH2B
Summary: Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward thyroid (RPKM 117.6) See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (107660828..107717809)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (108976971..109033936)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (107301273..107358254)

Chromosome 7 - NC_000007.14 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4].
Title: [Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4].
SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac.
Title: SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac.
Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs.
Title: Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs.
Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
Title: Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
Pendrin: linking acid base to blood pressure.
Title: Pendrin: linking acid base to blood pressure.
Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Title: Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.
Title: Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.
The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.
Title: The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.
Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.
Title: Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Title: Dispersed DNA variants underlie hearing loss in South Florida's minority population.

Submit: New GeneRIF Correction See all GeneRIFs (273)

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
Autosomal recessive nonsyndromic hearing loss 4 MedGen: C3538946 OMIM: 600791 GeneReviews: Genetic Hearing Loss Overview, Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct	Compare labs
Pendred syndrome MedGen: C0271829 OMIM: 274600 GeneReviews: Genetic Hearing Loss Overview, Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct	Compare labs

EBI GWAS Catalog

Description
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. 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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Markers

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

D7S2459 (e-PCR), detects polymorphism
- UniSTS:25418

D7S2459 (e-PCR), detects polymorphism
- UniSTS:3694

G36378 (e-PCR)
- UniSTS:55693

D11S3114 (e-PCR)
- UniSTS:152207

SLC26A4_832 (e-PCR)
- UniSTS:277739

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 chloride transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
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 iodide transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables iodide transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables iodide transmembrane transporter activity	TAS Traceable Author Statement 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 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
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 inorganic anion transport	TAS Traceable Author Statement more info	PubMed
involved_in iodide transport	IMP Inferred from Mutant Phenotype 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 regulation of pH	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in sensory perception of sound	TAS Traceable Author Statement more info	PubMed
involved_in sulfate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in brush border membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
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: pendrin

Names: sodium-independent chloride/iodide transporter; solute carrier family 26 (anion exchanger), member 4

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_008489.1 RefSeqGene

Range

5194..62175

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000441.2 → NP_000432.1 pendrin

Status: REVIEWED

Source sequence(s)

AF030880

Consensus CDS

CCDS5746.1

UniProtKB/Swiss-Prot

B7Z266, O43170, O43511

UniProtKB/TrEMBL

A0A291FIV6

Related

ENSP00000494017.1, ENST00000644269.2

Conserved Domains (3) summary

cd07042
Location:536 → 722

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:70 → 725

sulP; high affinity sulphate transporter 1

cl21588
Location:583 → 654

Snf7; Snf7