SLC26A5 - solute carrier family 26 member 5 Gene

Also Known as PRES; DFNB61

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 375611

About SLC26A5

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:103,352,730-103,446,207 (from NCBI)

This gene has 15 transcripts (splice variants), 219 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 1.9), kidney (RPKM 1.8) and 25 other tissues.

Summary

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]

SLC26A5 Products (6)

mRNA	Protein	Name
NM_001167962.2	NP_001161434.1	prestin isoform e
NM_001321787.2	NP_001308716.1	prestin isoform f
NM_198999.3	NP_945350.1	prestin isoform a
NM_206883.3	NP_996766.1	prestin isoform b
NM_206884.3	NP_996767.1	prestin isoform c
NM_206885.3	NP_996768.1	prestin isoform d

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	34390643	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	12719379	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in lateral plasma membrane	IDA IDA: Inferred from direct assay	12584604	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC26A5 Protein Structure

Sulfate_transp

STAS

0
200
400
600
744 a.a.

Protein Preferred Names	Protein Names
prestin	prestin (motor protein)

SLC26A5 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89943	Prestin Antibody (YA9287)	WB, IP, ELISA	human

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 61	DFNB61 Autosomal Recessive Nonsyndromic Deafness 61 Autosomal Recessive Deafness 61 Deafness, Autosomal Recessive, 61 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61 Deafness, Autosomal Recessive, Type 61
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Diastrophic Dysplasia	Diastrophic Dwarfism DTD Dd Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Dysplasia, Diastrophic Diastrophic Dysplasia Variant
Pendred Syndrome	Goiter-Deafness Syndrome Deafness With Goiter PDS Thyroid Dyshormonogenesis 2b Tdh2b Autosomal Recessive Sensorineural Hearing Impairment And Goiter Pendred'S Syndrome Thyroid Hormonogenesis, Genetic Defect In, 2b Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b Congenital Hypothyroidism Due To Dyshormonogenesis 2b Genetic Defect In Thyroid Hormonogenesis 2b Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter Goiter-Hearing Loss Syndrome Goitre-Deafness Syndrome Goitre Deafness
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Pollen Allergy	Hay Fever
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Peripheral Vertigo	Vertigo, Peripheral
Vestibular Disease	Vestibular Diseases Vertigo, Vestibular Disorder Vestibular Disorder Diseases Of Inner Ear
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13139	SLC26A5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC26A5	RGD	RGD:69334
Felis catus	SLC26A5	VGNC	VGNC:69041
Canis familiaris	SLC26A5	VGNC	VGNC:46325
Macaca mulatta	SLC26A5	VGNC	VGNC:77597
Mus musculus	SLC26A5	MGD	MGI:1933154
Bos taurus	SLC26A5	VGNC	VGNC:34780
Others	SLC26A5	NCBI