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Aliases for SLC26A5 Gene

Aliases for SLC26A5 Gene

  • Solute Carrier Family 26 Member 5 2 3 4 5
  • Solute Carrier Family 26 (Anion Exchanger), Member 5 2 3
  • Prestin (Motor Protein) 2 3
  • PRES 3 4
  • Deafness, Neurosensory, Autosomal Recessive, 61 2
  • Prestin 3
  • DFNB61 3

External Ids for SLC26A5 Gene

Previous HGNC Symbols for SLC26A5 Gene

  • PRES

Previous GeneCards Identifiers for SLC26A5 Gene

  • GC07M102588
  • GC07M102780
  • GC07M102993
  • GC07M097355

Summaries for SLC26A5 Gene

Entrez Gene Summary for SLC26A5 Gene

  • This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]

GeneCards Summary for SLC26A5 Gene

SLC26A5 (Solute Carrier Family 26 Member 5) is a Protein Coding gene. Diseases associated with SLC26A5 include Deafness, Autosomal Recessive 61 and Dfnb61 Nonsyndromic Hearing Loss And Deafness. GO annotations related to this gene include spectrin binding and sulfate transmembrane transporter activity. An important paralog of this gene is MIR6824.

UniProtKB/Swiss-Prot for SLC26A5 Gene

  • Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ. Prestin is a bidirectional voltage-to-force converter, it can operate at microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the cytoplasmic side in response to depolarization. As a consequence, this translocation triggers conformational changes in the protein that ultimately alter its surface area in the plane of the plasma membrane. The area decreases when the anion is near the cytoplasmic face of the membrane (short state), and increases when the ion has crossed the membrane to the outer surface (long state). So, it acts as an incomplete transporter. It swings anions across the membrane, but does not allow these anions to dissociate and escape to the extracellular space. Salicylate, an inhibitor of outer hair cell motility, acts as competitive antagonist at the prestin anion-binding site (By similarity).

Gene Wiki entry for SLC26A5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC26A5 Gene

Genomics for SLC26A5 Gene

Regulatory Elements for SLC26A5 Gene

Enhancers for SLC26A5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SLC26A5 on UCSC Golden Path with GeneCards custom track

Promoters for SLC26A5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for SLC26A5 Gene

Chromosome:
7
Start:
103,352,730 bp from pter
End:
103,446,177 bp from pter
Size:
93,448 bases
Orientation:
Minus strand

Genomic View for SLC26A5 Gene

Genes around SLC26A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC26A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC26A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC26A5 Gene

Proteins for SLC26A5 Gene

  • Protein details for SLC26A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58743-S26A5_HUMAN
    Recommended name:
    Prestin
    Protein Accession:
    P58743
    Secondary Accessions:
    • Q496J2
    • Q7Z7F3
    • Q86UF8
    • Q86UF9
    • Q86UG0

    Protein attributes for SLC26A5 Gene

    Size:
    744 amino acids
    Molecular mass:
    81264 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC26A5 Gene

neXtProt entry for SLC26A5 Gene

Post-translational modifications for SLC26A5 Gene

  • Glycosylation at Asn 163 and Asn 166
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC26A5 Gene

Domains & Families for SLC26A5 Gene

Gene Families for SLC26A5 Gene

Protein Domains for SLC26A5 Gene

Suggested Antigen Peptide Sequences for SLC26A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P58743

UniProtKB/Swiss-Prot:

S26A5_HUMAN :
  • Contains 1 STAS domain.
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
Domain:
  • Contains 1 STAS domain.
Family:
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
genes like me logo Genes that share domains with SLC26A5: view

Function for SLC26A5 Gene

Molecular function for SLC26A5 Gene

UniProtKB/Swiss-Prot Function:
Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ. Prestin is a bidirectional voltage-to-force converter, it can operate at microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the cytoplasmic side in response to depolarization. As a consequence, this translocation triggers conformational changes in the protein that ultimately alter its surface area in the plane of the plasma membrane. The area decreases when the anion is near the cytoplasmic face of the membrane (short state), and increases when the ion has crossed the membrane to the outer surface (long state). So, it acts as an incomplete transporter. It swings anions across the membrane, but does not allow these anions to dissociate and escape to the extracellular space. Salicylate, an inhibitor of outer hair cell motility, acts as competitive antagonist at the prestin anion-binding site (By similarity).

Gene Ontology (GO) - Molecular Function for SLC26A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IBA --
GO:0005515 protein binding IEA --
GO:0008134 transcription factor binding IEA --
GO:0008271 secondary active sulfate transmembrane transporter activity IEA --
GO:0015106 bicarbonate transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC26A5: view
genes like me logo Genes that share phenotypes with SLC26A5: view

Human Phenotype Ontology for SLC26A5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC26A5 Gene

MGI Knock Outs for SLC26A5:

Animal Model Products

CRISPR Products

miRNA for SLC26A5 Gene

miRTarBase miRNAs that target SLC26A5

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC26A5 Gene

Localization for SLC26A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC26A5 Gene

Cell membrane; Multi-pass membrane protein. Note=Lateral wall of outer hair cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC26A5 Gene COMPARTMENTS Subcellular localization image for SLC26A5 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
nucleus 2
peroxisome 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC26A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016323 basolateral plasma membrane IEA --
GO:0016328 lateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC26A5: view

Pathways & Interactions for SLC26A5 Gene

SuperPathways for SLC26A5 Gene

No Data Available

Interacting Proteins for SLC26A5 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000304783%0d%0a9606.ENSP00000007516%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000431822%0d%0a9606.ENSP00000358674%0d%0a9606.ENSP00000003084%0d%0a
Selected Interacting proteins: P58743-S26A5_HUMAN ENSP00000304783 for SLC26A5 Gene via IID STRING

Gene Ontology (GO) - Biological Process for SLC26A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002931 response to ischemia IEA --
GO:0007605 sensory perception of sound IMP 12719379
GO:0008360 regulation of cell shape IEA --
GO:0009751 response to salicylic acid IEA --
GO:0010996 response to auditory stimulus IEA --
genes like me logo Genes that share ontologies with SLC26A5: view

No data available for Pathways by source and SIGNOR curated interactions for SLC26A5 Gene

Drugs & Compounds for SLC26A5 Gene

(5) Drugs for SLC26A5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for SLC26A5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
71-52-3
genes like me logo Genes that share compounds with SLC26A5: view

Transcripts for SLC26A5 Gene

mRNA/cDNA for SLC26A5 Gene

Unigene Clusters for SLC26A5 Gene

Solute carrier family 26, member 5 (prestin):
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1:
SP2: -

Relevant External Links for SLC26A5 Gene

GeneLoc Exon Structure for
SLC26A5
ECgene alternative splicing isoforms for
SLC26A5

Expression for SLC26A5 Gene

mRNA expression in normal human tissues for SLC26A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC26A5 Gene

This gene is overexpressed in Bladder (x5.4), Brain - Cerebellum (x5.3), and Brain - Cerebellar Hemisphere (x5.3).

Protein differential expression in normal tissues from HIPED for SLC26A5 Gene

This gene is overexpressed in Heart (44.9), Retina (12.4), and Adipocyte (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC26A5 Gene



Protein tissue co-expression partners for SLC26A5 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC26A5 Gene:

SLC26A5

SOURCE GeneReport for Unigene cluster for SLC26A5 Gene:

Hs.585146
genes like me logo Genes that share expression patterns with SLC26A5: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SLC26A5 Gene

Orthologs for SLC26A5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC26A5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC26A5 34
  • 92.2 (n)
  • 96.21 (a)
SLC26A5 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC26A5 34
  • 91.94 (n)
  • 96.77 (a)
SLC26A5 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc26a5 34
  • 87.86 (n)
  • 95.03 (a)
Slc26a5 16
Slc26a5 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC26A5 34
  • 99.46 (n)
  • 99.6 (a)
SLC26A5 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc26a5 34
  • 87.1 (n)
  • 94.49 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC26A5 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC26A5 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC26A5 34
  • 65.6 (n)
  • 60.39 (a)
SLC26A5 35
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC26A5 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc26a5 34
  • 62.42 (n)
  • 58.17 (a)
Str.12143 34
zebrafish
(Danio rerio)
Actinopterygii pres 34
slc26a5 34
  • 59.25 (n)
  • 55.1 (a)
slc26a5 35
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010389 34
  • 25.36 (n)
  • 4.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta Prestin 34
  • 47.85 (n)
  • 35.54 (a)
worm
(Caenorhabditis elegans)
Secernentea sulp-8 34
  • 50.3 (n)
  • 39.96 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AST91 34
  • 44.58 (n)
  • 35.13 (a)
rice
(Oryza sativa)
Liliopsida Os04g0652400 34
  • 43.29 (n)
  • 30.08 (a)
Species where no ortholog for SLC26A5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC26A5 Gene

ENSEMBL:
Gene Tree for SLC26A5 (if available)
TreeFam:
Gene Tree for SLC26A5 (if available)

Paralogs for SLC26A5 Gene

genes like me logo Genes that share paralogs with SLC26A5: view

Variants for SLC26A5 Gene

Sequence variations from dbSNP and Humsavar for SLC26A5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2108264 -- 103,441,416(-) ATTAC(A/G)TTGTA intron-variant
rs2108265 -- 103,436,244(-) AATTT(G/T)CAGAC intron-variant
rs2190419 -- 103,432,640(-) GATCA(C/G)AAGTG intron-variant
rs2190420 -- 103,432,551(-) TTTCA(A/C)AAAGT intron-variant
rs2190421 -- 103,431,883(-) ACTTG(A/G)TAAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC26A5 Gene

Variant ID Type Subtype PubMed ID
dgv3912e59 CNV duplication 20981092
esv3334511 CNV duplication 20981092
nsv1119232 CNV duplication 24896259
nsv1141555 CNV duplication 24896259
nsv1146187 CNV duplication 26484159
nsv472420 CNV novel sequence insertion 20440878
nsv5884 CNV insertion 18451855
nsv5885 CNV insertion 18451855

Variation tolerance for SLC26A5 Gene

Residual Variation Intolerance Score: 13.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC26A5 Gene

Human Gene Mutation Database (HGMD)
SLC26A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC26A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC26A5 Gene

Disorders for SLC26A5 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SLC26A5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 61
  • deafness, autosomal recessive, 61
dfnb61 nonsyndromic hearing loss and deafness
  • deafness, neurosensory, autosomal recessive 61
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
hypertensive encephalopathy
diastrophic dysplasia
  • diastrophic dysplasia, broad bone-platyspondylic variant
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S26A5_HUMAN
  • Deafness, autosomal recessive, 61 (DFNB61) [MIM:613865]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:12719379}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC26A5

Genetic Association Database (GAD)
SLC26A5
Human Genome Epidemiology (HuGE) Navigator
SLC26A5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC26A5
genes like me logo Genes that share disorders with SLC26A5: view

No data available for Genatlas for SLC26A5 Gene

Publications for SLC26A5 Gene

  1. Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. (PMID: 19027966) Teek R. … Ounap K. (Int. J. Pediatr. Otorhinolaryngol. 2009) 3 22 46 65
  2. DNA sequence analysis of SLC26A5, encoding prestin, in a patient-control cohort: identification of fourteen novel DNA sequence variations. (PMID: 19492055) Minor J.S. … Alford R.L. (PLoS ONE 2009) 3 22 46 65
  3. High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss. (PMID: 16086836) Tang H.Y. … Alford R.L. (BMC Med. Genet. 2005) 3 22 46 65
  4. Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. (PMID: 12719379) Liu X.Z. … Chen Z.-Y. (Hum. Mol. Genet. 2003) 3 4 22 65
  5. Prestin is the motor protein of cochlear outer hair cells. (PMID: 10821263) Zheng J. … Dallos P. (Nature 2000) 2 3 22 65

Products for SLC26A5 Gene

Sources for SLC26A5 Gene

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