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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 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Gene Ontology (GO) annotations related to this gene include spectrin binding and sulfate transmembrane transporter activity. An important paralog of this gene is SLC26A6.

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

Additional gene information for SLC26A5 Gene

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

Genomics for SLC26A5 Gene

GeneHancer (GH) Regulatory Elements for SLC26A5 Gene

Promoters and enhancers for SLC26A5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I103445 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 562.8 +0.3 304 1.3 SMARCE1 ZBTB6 RB1 RNF2 L3MBTL2 MAX CHD1 KLF4 E2F1 ZNF335 SLC26A5 LOC101927870 DPY19L2P2 ARMC10
GH07I103447 Enhancer 0.7 ENCODE 550.8 -1.1 -1142 0.1 ELF3 CTCF ZSCAN9 RAD21 CC2D1A ZBTB48 SCRT2 SMC3 ZNF143 ZNF444 SLC26A5 CRYZP1 ENSG00000213385 POLR2J3 PMPCB POLR2J2 LOC101927870 RN7SKP86
GH07I103406 Enhancer 1 ENCODE 11.2 +39.1 39128 0.2 HDGF CLOCK ATF1 FOXA2 ARNT ARID4B SIN3A DMAP1 RXRA NCOA1 PMPCB LOC101927870 SLC26A5 PIR37597 ENSG00000251852 GC07M103436
GH07I103485 Enhancer 0.2 FANTOM5 7.1 -39.1 -39061 0 RN7SKP86 SLC26A5 LOC101927870 LOC105375435 RELN
GH07I103704 Enhancer 0.2 FANTOM5 1.6 -258.5 -258505 0 SLC26A5 RELN GC07P103686 GC07P103723
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC26A5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC26A5 gene promoter:

Genomic Locations for SLC26A5 Gene

Genomic Locations for SLC26A5 Gene
chr7:103,352,730-103,446,177
(GRCh38/hg38)
Size:
93,448 bases
Orientation:
Minus strand
chr7:102,993,177-103,086,624
(GRCh37/hg19)

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 posLast=163163 and isoforms=2, 3, 4, 5, 6166

No data available for DME Specific Peptides for SLC26A5 Gene

Domains & Families for SLC26A5 Gene

Gene Families for SLC26A5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

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 :
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
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).

Phenotypes From GWAS Catalog for SLC26A5 Gene

Gene Ontology (GO) - Molecular Function for SLC26A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IBA --
GO:0008134 transcription factor binding IEA --
GO:0008271 secondary active sulfate transmembrane transporter activity IEA --
GO:0015106 bicarbonate transmembrane transporter activity IBA --
GO:0015116 sulfate transmembrane transporter activity IEA,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

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC26A5 gene
Compartment Confidence
plasma membrane 5
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC26A5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC26A5 Gene

Pathways & Interactions for SLC26A5 Gene

SuperPathways for SLC26A5 Gene

No Data Available

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,IEA 12719379
GO:0008272 sulfate transport IEA --
GO:0008360 regulation of cell shape IEA --
GO:0009751 response to salicylic acid 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

(6) Drugs for SLC26A5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(8) 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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for SLC26A5 Gene

  • Liver(2.4)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC26A5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
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
chimpanzee
(Pan troglodytes)
Mammalia SLC26A5 33 34
  • 99.46 (n)
cow
(Bos Taurus)
Mammalia SLC26A5 33 34
  • 92.2 (n)
dog
(Canis familiaris)
Mammalia SLC26A5 33 34
  • 91.94 (n)
mouse
(Mus musculus)
Mammalia Slc26a5 33 16 34
  • 87.86 (n)
rat
(Rattus norvegicus)
Mammalia Slc26a5 33
  • 87.1 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC26A5 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC26A5 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC26A5 33 34
  • 65.6 (n)
lizard
(Anolis carolinensis)
Reptilia SLC26A5 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc26a5 33
  • 62.42 (n)
Str.12143 33
zebrafish
(Danio rerio)
Actinopterygii slc26a5 33 34
  • 59.25 (n)
pres 33
fruit fly
(Drosophila melanogaster)
Insecta Prestin 33
  • 47.85 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010389 33
  • 25.36 (n)
worm
(Caenorhabditis elegans)
Secernentea sulp-8 33
  • 50.3 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AST91 33
  • 44.58 (n)
rice
(Oryza sativa)
Liliopsida Os04g0652400 33
  • 43.29 (n)
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 Variation AA Info Type
rs116900495 uncertain-significance, likely-benign, Deafness, autosomal recessive 61, not specified 103,421,569(-) T/C splice_acceptor_variant
rs138432667 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 103,379,330(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs141436712 likely-benign, uncertain-significance, not specified, Nonsyndromic Hearing Loss, Recessive 103,421,437(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs141952919 benign, uncertain-significance, not specified, Nonsyndromic Hearing Loss, Recessive 103,421,378(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs142159316 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 103,411,472(-) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

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

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for SLC26A5

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

No data available for Genatlas for SLC26A5 Gene

Publications for SLC26A5 Gene

  1. DNA sequence analysis of SLC26A5, encoding prestin, in a patient-control cohort: identification of fourteen novel DNA sequence variations. (PMID: 19492055) Minor JS … Alford RL (PloS one 2009) 3 22 44 58
  2. Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. (PMID: 19027966) Teek R … Ounap K (International journal of pediatric otorhinolaryngology 2009) 3 22 44 58
  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 HY … Alford RL (BMC medical genetics 2005) 3 22 44 58
  4. Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. (PMID: 12719379) Liu XZ … Chen ZY (Human molecular genetics 2003) 3 4 22 58
  5. Prestin is the motor protein of cochlear outer hair cells. (PMID: 10821263) Zheng J … Dallos P (Nature 2000) 2 3 22 58

Products for SLC26A5 Gene

Sources for SLC26A5 Gene

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