Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	375611
Gene name	Solute carrier family 26 member 5
Gene symbol	SLC26A5
Synonyms (NCBI Gene)	DFNB61PRES
Chromosome	7
Chromosome location	7q22.1
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 a

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs431905517	T>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs431905518	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments
MIRT2440441	hsa-miR-3545-3p	CLIP-seq
MIRT2440442	hsa-miR-4293	CLIP-seq
MIRT2440443	hsa-miR-4539	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002931	Process	Response to ischemia	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 39482536
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	ISS
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	12719379
GO:0008271	Function	Secondary active sulfate transmembrane transporter activity	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009751	Process	Response to salicylic acid	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0015116	Function	Sulfate transmembrane transporter activity	IBA
GO:0015701	Process	Bicarbonate transport	IEA
GO:0015701	Process	Bicarbonate transport	ISS
GO:0015755	Process	Fructose transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016328	Component	Lateral plasma membrane	IDA	12584604, 14553901
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0019531	Function	Oxalate transmembrane transporter activity	IBA
GO:0019532	Process	Oxalate transport	IBA
GO:0019532	Process	Oxalate transport	IEA
GO:0030507	Function	Spectrin binding	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034766	Process	Negative regulation of monoatomic ion transmembrane transport	IEA
GO:0035864	Process	Response to potassium ion	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	34390643
GO:0045793	Process	Positive regulation of cell size	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0097066	Process	Response to thyroid hormone	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0120249	Component	Lateral wall of outer hair cell	IEA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IBA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IEA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	ISS
GO:1902074	Process	Response to salt	IEA
GO:1902358	Process	Sulfate transmembrane transport	IBA
GO:1902358	Process	Sulfate transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:2000147	Process	Positive regulation of cell motility	IEA

MIM	HGNC	e!Ensembl
604943	9359	ENSG00000170615

P58743

Protein name

Prestin (Solute carrier family 26 member 5)

Protein function

Voltage-sensitive motor protein that drives outer hair cell (OHC) electromotility (eM) and participates in sound amplification in the hearing organ (By similarity). Converts changes in the transmembrane electric potential into mechanical displac

PDB

7LGU , 7LGW , 7LH2 , 7LH3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00916	Sulfate_transp	80 → 475	Sulfate permease family	Family
PF01740	STAS	526 → 709	STAS domain	Domain

Sequence

MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKLKQAFTCTPKKIRNI
IYMFLPITKWLPAYKFKEYVLGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPV
IMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPGGVNATNGTEARDALRVKVAM
SVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGI
FSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMG
TGISAGFNLKESYNVDVVGTLPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKT
LANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRSLVQEGTGGKTQLAGCLASLM
ILLVILATGFLFESLPQAVLSAIVIVNLKGMFMQFSDLPFFWRTSKIELTIWLTTFVSSL
FLGLDYGLITAVIIALLTVIYRTQSPSYKVLGKLPETDVYIDIDAYEEVKEIPGIKIFQI
NAPIYYANSDLYSNALKRKTGVNPAVIMGARRKAMRKYAKEVGNANMANATVVKADAEVD
GEDATKPEEEDGEVKYPPIVIKSTFPEEMQRFMPPGDNVHTVILDFTQVNFIDSVGVKTL
AGIVKEYGDVGIYVYLAGCSAQVVNDLTRNRFFENPALWELLFHSIHDAVLGSQLREALA
EQEASAPPSQEDLEPNATPATPEA

Sequence length

744

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 61	Pathogenic; Likely pathogenic	rs431905517, rs431905518, rs770663172, rs2485141190	RCV000083266 RCV000083267 RCV001619766 RCV003234842	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 61	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEARING LOSS	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing loss, autosomal recessive	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic genetic hearing loss	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC26A5-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Achondrogenesis, type IB (disorder)	Achondrogenesis	BEFREE	15720248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29395751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	12719379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	CTD_human_DG	12719379		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 61	Deafness	GENOMICS_ENGLAND_DG	26969326		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 61	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 61	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	11247665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28042689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	20668687, 24164807, 27041369, 35064195	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	20146813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	29990959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	29395751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17876546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	29990959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	15720248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	28281110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	10821263, 11423665, 12239568, 12719379, 17786286, 17998209, 18466744, 21954035, 24164807, 26969326, 27091614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	23782927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior reversible encephalopathy syndrome	Leukoencephalopathy	BEFREE	29990959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	12719379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	BEFREE	26824437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	30657092		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC26A5 (solute carrier family 26 member 5)