SLC26A4 - solute carrier family 26 member 4 Gene

Also Known as EVA; PDS; DFNB4; TDH2B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5172

About SLC26A4

Cytogenetic location: 7q22.3 Genomic coordinates (GRCh38): 7:107,660,828-107,717,809 (from NCBI)

This gene has 8 transcripts (splice variants), 176 orthologues, 9 paralogues and is associated with 6 phenotypes. Restricted expression toward thyroid (RPKM 117.6).

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]

SLC26A4 Products (1)

mRNA	Protein	Name
NM_000441.2	NP_000432.1	pendrin

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chloride transmembrane transporter activity	IDA IDA: Inferred from direct assay	12107249	GOA
enables chloride transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	24051746	GOA
enables chloride:bicarbonate antiporter activity	IDA IDA: Inferred from direct assay	35601831	GOA
enables chloride:bicarbonate antiporter activity	IMP IMP: Inferred from mutant phenotype	24051746	GOA
enables iodide transmembrane transporter activity	IDA IDA: Inferred from direct assay	12107249	GOA
enables iodide transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	11932316	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	35601831	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in iodide transport	IMP IMP: Inferred from mutant phenotype	16684826	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	11274445	GOA
located in extracellular exosome	IDA IDA: Inferred from direct assay	21082674	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	11932316	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

SLC26A4 Protein Structure

Sulfate_transp

STAS

0
200
400
600
780 a.a.

Protein Preferred Names	Protein Names
pendrin	sodium-independent chloride/iodide transporter

Related Diseases

Diseases	Alias
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
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
Ear Malformation	Cup Ear
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
Deafness, Autosomal Recessive
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Athyreosis
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid Dysgenesis CHNG2 Thyroid Hypoplasia Thyroid Hemiagenesis Thyroid Agenesis Athyreotic Hypothyroidism Rtsh Thyrotropin Resistance Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia Congenital Nongoitrous Hypothyroidism 2 Thyroid, Ectopic Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Hypothyroidism, Athyreotic Thyrotropin Resistance To Thyrotropin Congenital Hypothyroidism Due To Thyroid Dysgenesis Or Hypoplasia Hypothyroidism, Congenital, Non-Goitrous, 2 Congenital Hypothyroidism Due To Thyroid Dysgenesis Thyroid-Stimulating Hormone Resistance Thyroid Ectopic Ectopic Thyroid Hypothyroidism, Congenital, Nongoitrous, 3 Thyroid Hormone Resistance Syndrome Hypothyroidism, Congenital, Nongoitrous, 1
Rare Genetic Deafness	Rare Genetic Hearing Loss
Goiter	Goitre
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
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
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Multinodular Goiter
Vestibular Disease	Vestibular Diseases Vertigo, Vestibular Disorder Vestibular Disorder Diseases Of Inner Ear
Diastrophic Dysplasia	Diastrophic Dwarfism DTD Dd Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Dysplasia, Diastrophic Diastrophic Dysplasia Variant
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Pattern Wpw Syndrome Anomalous Atrioventricular Excitation Anomalous A-V Excitation Ventricular Pre-Excitation With Arrhythmia WPWS Ventricular Familial Preexcitation Syndrome Preexcitation Syndrome Ventricular Preexcitation Wpw - [Wolff-Parkinson- White] Syndrome Pre-Excitation Syndrome
Cochlear Disease	Cochlear Diseases
Hashimoto Thyroiditis	Autoimmune Thyroiditis Hashimoto Struma Hashimoto'S Thyroiditis Chronic Lymphocytic Thyroiditis Lymphocytic Thyroiditis Hashimoto Disease Ht Hashimoto'S Disease Hashimoto'S Syndrome Hypothyroidism, Autoimmune Autoimmune Chronic Lymphocytic Thyroiditis Chronic Lymphocytic Thyroiditides Hashimoto Syndrome Hashimotos Thyroiditis Hashimoto Thyroiditis, Susceptibility To Thyroiditis, Autoimmune Lymphomatous Thyroiditis Lymphoid Thyroiditis Chronic Lymphadenoid Thyroiditis Autoimmune Lymphocytic Chronic Thyroiditis Goitre Lymphomatosa Hashitoxicosis Hashimoto Hypothyroidism Lymphadenoid Goitre Struma Lymphomatosa Hyperthyroidism With Hashimoto Disease Hashimoto Thyrotoxicosis Thyrotoxicosis Due To Hashimoto Thyroiditis Struma Lymphomatosis Lymphadenoid Struma
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Toxic Labyrinthitis
Dyshormonogenic Goiter	Dyshormonogenic Goitre
Peripheral Vertigo	Vertigo, Peripheral
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Superior Semicircular Canal Dehiscence	Superior Canal Dehiscence Syndrome Superior Semicircular Canal Dehiscence Syndrome Canal Dehiscence Syndrome Superior Canal Dehiscence Superior Canal Syndrome Third Mobile Window Syndrome Scds Anemia, Sickle Cell
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate	Bamforth-Lazarus Syndrome Bamforth Syndrome Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome Hypothyroidism-Cleft Palate Syndrome BLS Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate
Follicular Adenoma	Follicular Adenoma Of The Thyroid Gland Thyroid Follicular Adenoma Adenoma Follicular Follicular Thyroid Adenoma Thyroid Gland Follicular Adenoma
Autosomal Recessive Nonsyndromic Deafness 3	Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3 Dfnb3 Nrsd3 Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 77	DFNB77 Autosomal Recessive Nonsyndromic Deafness 77 Autosomal Recessive Deafness 77 Deafness, Autosomal Recessive, 77 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 77 Deafness, Autosomal Recessive, Type 77
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
Deafness, Autosomal Recessive 1a	DFNB1A Deafness, Digenic, Gjb2/Gjb3 Autosomal Recessive Nonsyndromic Deafness 1a Deafness, Digenic, Gjb2/Gjb6 Deafness, Digenic Gjb2/Gjb6 Autosomal Recessive Deafness 1a Deafness, Autosomal Recessive, 1a Deafness Digenic Gjb2/Gjb3 Deafness Digenic Gjb2/Gjb6 Deafness Neurosensory Autosomal Recessive 1 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 Nsrd1 Deafness, Autosomal Recessive, Type 1a
Deafness, Autosomal Recessive 9	Auditory Neuropathy, Autosomal Recessive, 1 Neurosensory Nonsyndromic Recessive Deafness 9 DFNB9 Nsrd9 Autosomal Recessive Nonsyndromic Deafness 9 Autosomal Recessive Deafness 9 Nrsd9 AUNB1 Nonsyndromic Auditory Neuropathy Autosomal Recessive Nsran Deafness, Autosomal Recessive, 9 Deafness Neurosensory Autosomal Recessive 9 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 Non-Syndromic Recessive Hearing Loss 9 Deafness, Autosomal Recessive, Type 9 Auditory Neuropathy, Nonsyndromic Recessive
Diarrhea 1, Secretory Chloride, Congenital	DIAR1 Chloride Diarrhea, Congenital, Finnish Type Congenital Secretory Chloride Diarrhea 1 Congenital Chloride Diarrhea Finnish Type Congenital Chloride Diarrhea Chloridorrhea, Congenital Congenital Chloride Diarrhoea Finnish Type Congenital Chloridorrhea Congenital Secretory Chloride Diarrhoea 1 Chloridorrhea Congenital Cld Diarrhea 1 Secretory Chloride Congenital Diarrhea, Type 1, Chloride, Secretory, Congenital
Labyrinthitis	Labyrinthine Disorder Inner Ear Inflammation Otitis Interna Labyrinth Hyperaemia
Renal Tubular Acidosis	Acidosis Renal Tubular Acidosis, Renal Tubular Lightwood-Albright Syndrome Lightwood Syndrome Idiopathic Infantile Hypercalcemia - Mild Form Kidney Tubular Acidosis Renal Tubule Acidosis Kidney Acidosis Renal Acidosis Renal Hyperchloremic Acidosis Rta - [Renal Tubular Acidosis]
Deafness, Autosomal Recessive 16	DFNB16 Autosomal Recessive Nonsyndromic Deafness 16 Autosomal Recessive Deafness 16 Deafness, Autosomal Recessive, 16 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16 Deafness, Autosomal Recessive, Type 16
Deafness, Autosomal Dominant 56	DFNA56 Autosomal Dominant Nonsyndromic Deafness 56 Autosomal Dominant Deafness 56 Deafness, Autosomal Dominant, 56 Deafness, Autosomal Dominant, Type 56
Thyroid Gland Anaplastic Carcinoma	Anaplastic Thyroid Carcinoma Anaplastic Thyroid Cancer Thyroid Cancer, Anaplastic Thyroid Carcinoma, Anaplastic Thyroid Carcinoma Anaplastic
X-Linked Nonsyndromic Deafness	X-Linked Deafness Deafness, X-Linked
Drug-Induced Hearing Loss	Drug Induced Hearing Loss
Deafness, Autosomal Dominant 2b	DFNA2B Autosomal Dominant Nonsyndromic Deafness 2b Autosomal Dominant Deafness 2b Deafness, Autosomal Dominant, 2b Deafness, Autosomal Dominant, Type 2b
Deafness, X-Linked 2	Progressive Deafness With Stapes Fixation DFNX2 Dfn3 Nance Deafness Perilymphatic Gusher-Deafness Syndrome Stapedo-Vestibular Ankylosis Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear X-Linked Deafness 2 X-Linked Mixed Conductive And Neurosensory Deafness X-Linked Mixed Conductive And Sensorineural Deafness Deafness 3 Conductive With Stapes Fixation Deafness Conductive With Stapes Fixation Deafness Mixed With Perilymphatic Gusher Thies-Reis Syndrome Deafness, Conductive, With Stapes Fixation Deafness 3, Conductive, With Stapes Fixation Deafness, Mixed, With Perilymphatic Gusher Conductive Deafness 3 With Stapes Fixation Conductive Deafness With Stapes Fixation Mixed Deafness With Perilymphatic Gusher X-Linked Deafness Type 2 X-Linked Mixed Conductive And Neurosensory Hearing Loss X-Linked Mixed Conductive And Sensorineural Hearing Loss X-Linked Sensorineural Deafness X-Linked Stapes Gusher Syndrome Deafness Mixed With Perilymphatic Gusher, X-Linked Dfn 3 Nonsyndromic Hearing Loss And Deafness Gusher Syndrome Thies Reis Syndrome Progressive Hearing Loss With Stapes Fixation Deafness, X-Linked, 2 Deafness Mixed With Perilymph Gusher X-Linked Deafness, X-Linked, Type 2 Progressive Hearing Loss Stapes Fixation
Deafness, Autosomal Recessive 2	DFNB2 Neurosensory Nonsyndromic Recessive Deafness 2 Nsrd2 Autosomal Recessive Nonsyndromic Deafness 2 Deafness, Autosomal Recessive, Type 2 Autosomal Recessive Deafness 2 Deafness, Autosomal Recessive, 2 Deafness Neurosensory Autosomal Recessive 2 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2 Deafness, Autosomal Recessive 2, Neurosensory
Endemic Goiter	Iodine-Deficiency-Related Endemic Goitre Simple Goitre Goiter, Endemic Euthyroid Goiter
Deafness, Autosomal Recessive 8	Neurosensory Nonsyndromic Recessive Deafness 8 DFNB8 Dfnb10 Deafness, Autosomal Recessive 10 Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 Nsrd8 Autosomal Recessive Nonsyndromic Deafness 8 Deafness, Autosomal Recessive 8/10 Autosomal Recessive Deafness 10 Autosomal Recessive Deafness 8 Childhood-Onset Neurosensory Autosomal Recessive Deafness 8 Nrsd8 Deafness, Autosomal Recessive, 8 Childhood-Onset Neurosensory Deafness Autosomal Recessive 8 Deafness Autosomal Recessive 10 Deafness Autosomal Recessive 8/10 Deafness Neurosensory Autosomal Recessive 8 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8 Deafness, Autosomal Recessive, Type 8/10
Deafness, Autosomal Recessive 12	DFNB12 Deafness, Autosomal Recessive 12, Modifier Of Autosomal Recessive Nonsyndromic Deafness 12 Autosomal Recessive Deafness 12 Deafness, Autosomal Recessive, 12 Congenital Neurosensory Deafness Autosomal Recessive 12 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 Deafness, Autosomal Recessive, Type 12
Deafness, Autosomal Dominant 6	DFNA6 Dfna14 Dfna38 Deafness, Autosomal Dominant 6/14/38 Autosomal Dominant Nonsyndromic Deafness 6 Deafness, Autosomal Dominant 14 Deafness, Autosomal Dominant 38 Autosomal Dominant Deafness 14 Autosomal Dominant Deafness 38 Autosomal Dominant Deafness 6 Deafness, Autosomal Dominant, 6 Deafness Autosomal Dominant 14 Deafness Autosomal Dominant 38 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6
Baraitser-Winter Syndrome	Fryns-Aftimos Syndrome Brws Cerebro-Frontofacial Syndrome, Type 3 Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability Trigonocephaly Ptosis Coloboma Trigonocephaly Ptosis Intellectual Disability Cerebrofrontofacial Syndrome Type 3
Meniere Disease	Meniere'S Disease Otogenic Vertigo Ménière Disease Ménière'S Disease Mnire'S Vertigo Auditory Vertigo Aural Vertigo Meniere'S Syndrome Ménière'S Vertigo Primary Endolymphatic Hydrops Menieres Disease Vertigo, Aural Labyrinth Hydrops Labyrinthine Hydrops Labyrinthine Vertigo Ménière Syndrome Ménière Vertigo Idiopathic Endolymphatic Hydrops
Deafness, Autosomal Dominant 15	DFNA15 Autosomal Dominant Nonsyndromic Deafness 15 Autosomal Dominant Deafness 15 Deafness, Autosomal Dominant, 15 Deafness, Autosomal Dominant, Type 15
Y-Linked Deafness	Dfny
Deafness, Autosomal Dominant 9	DFNA9 Autosomal Dominant Nonsyndromic Deafness 9 Autosomal Dominant Deafness 9 Deafness, Autosomal Dominant, 9 Deafness, Autosomal Dominant, Type 9
Deafness, Autosomal Recessive 1b	DFNB1B Autosomal Recessive Nonsyndromic Deafness 1b Autosomal Recessive Deafness 1b Deafness, Autosomal Recessive, 1b Deafness Digenic Gjb2/Gjb6 Deafness Neurosensory Autosomal Recessive 1 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 Nsrd1 Deafness, Autosomal Recessive, Type 1b
Deafness, Aminoglycoside-Induced	Streptomycin Ototoxicity Deafness, Mitochondrial, Modifier Of Aminoglycoside-Induced Deafness Deafness, Streptomycin-Induced Streptomycin-Induced Deafness DFNI
Deafness, Autosomal Dominant 11	DFNA11 Autosomal Dominant Nonsyndromic Deafness 11 Autosomal Dominant Deafness 11 Deafness, Autosomal Dominant, 11 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11 Deafness, Autosomal Dominant, Type 11
Thyroid Dyshormonogenesis 6	TDH6 Genetic Defect In Thyroid Hormonogenesis 6 Thyroid Hormonogenesis, Genetic Defect In, 6 Hypothyroidism, Congenital, Due To Dyshormonogenesis, 6 Chdh6 Congenital Hypothyroidism Due To Dyshormonogenesis Type 6
Waardenburg'S Syndrome	Waardenburg Syndrome Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome Van Der Hoeve Halbertsona Waardenburg Syndrome Waardenburg Shah Syndrome Waardenburg, Types I And/Or Ii Mende Syndrome Waardenburgs Syndrome Waardenburg Syndrome, Type 4a
Deafness, Autosomal Recessive 83	DFNB83 Autosomal Recessive Nonsyndromic Deafness 83 Autosomal Recessive Deafness 83
Deafness, Autosomal Recessive 21	DFNB21 Autosomal Recessive Nonsyndromic Deafness 21 Autosomal Recessive Deafness 21 Deafness, Autosomal Recessive, 21 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21 Deafness, Autosomal Recessive, Type 21
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Sesame Syndrome East Syndrome SESAMES Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Epilepsy Ataxia Sensorineural Deafness And Tubulopathy Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome
Thyroid Gland Disease	Abnormality Of The Thyroid Gland Thyroid Diseases
Branchiootorenal Syndrome	Branchio-Oto-Renal Syndrome Bor Syndrome Branchiootorenal Dysplasia Melnick-Fraser Syndrome Branchiootorenal Spectrum Disorders Branchio-Otorenal Dysplasia Branchio Oto Renal Syndrome Branchiootorenal/Branchiootic Syndrome Bo Syndrome Bor Bos Branchio-Otorenal Syndrome Branchiootic Syndrome Branchiootorenal Syndrome Branchiootic Syndrome 1
Usher Syndrome, Type Id	Usher Syndrome Type 1d USH1D Usher Syndrome, Type 1d Usher Syndrome Type Id Usher Syndrome, Type Id/F, Digenic Usher Syndrome, Type 1d/F Digenic Usher Syndrome 1d Usher'S Syndrome Type 1d Usher Syndrome 1d/F USH1DF Ush1d/F Usher'S Syndrome Type 1h Usher Syndrome 1h Usher Syndrome Type Ih Usher Syndrome, Type 1d/F
Vertigo, Benign Recurrent	Benign Paroxysmal Positional Vertigo Bppv Vestibulopathy, Familial BRV Vertigo, Benign Paroxysmal Positional Benign Paroxysmal Positional Nystagmus Benign Recurrent Vertigo Familial Benign Recurrent Vertigo Familial Vestibulopathy Benign Paroxysmal Nystagmus Bppv - [Benign Positional Paroxysmal Vertigo]
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Deafness, Autosomal Dominant 4a	Deafness, Autosomal Dominant 4 DFNA4A Dfna4 Autosomal Dominant Nonsyndromic Deafness 4a Autosomal Dominant Deafness 4a Deafness, Autosomal Dominant, 4a Deafness Autosomal Dominant 4 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4 Deafness, Autosomal Dominant, Type 4a
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Jervell And Lange-Nielsen Syndrome 1	Jervell And Lange-Nielsen Syndrome Jervell-Lange Nielsen Syndrome Prolonged Qt Interval In Ekg And Sudden Death Cardioauditory Syndrome Of Jervell And Lange-Nielsen Surdo-Cardiac Syndrome JLNS1 Deafness, Congenital, And Functional Heart Disease Jlns Long Qt Interval-Deafness Syndrome Jervell And Lange-Nielson Syndrome Jervell Lange-Nielsen Syndrome Autosomal Recessive Long Qt Syndrome Cardio-Auditory-Syncope Syndrome Long Qt Interval-Hearing Loss Syndrome Congenital Deafness And Functional Heart Disease Long Qt Interval-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
Bartter Disease	Bartter Syndrome Bartter'S Syndrome Aldosteronism With Hyperplasia Of The Adrenal Cortex Hypokalemic Alkalosis With Hypercalciuria Potassium Wasting Juxtaglomerular Hyperplasia With Secondary Aldosteronism Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria Salt-Losing Tubular Disorder, Henle'S Loop Type Salt-Wasting Tubulopathy, Henle'S Loop Type Bartters Syndrome
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Liddle Syndrome 1	Liddle Syndrome Pseudoaldosteronism Liddle'S Syndrome LIDLS1 Lidls Pseudohyperaldosteronism Pseudoprimary Hyperaldosteronism Pseudohyperaldosteronism Type 1 Liddles Syndrome
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Otosclerosis	Otospongiosis
Thyroid Gland Follicular Carcinoma	Follicular Thyroid Carcinoma Follicular Adenocarcinoma Follicular Adenocarcinoma, Well Differentiated Follicular Carcinoma Thyroid Adenocarcinoma Adenocarcinoma, Follicular
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Sensory System Disease
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

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 (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-159706	S9-A13	Inhibitor	/	Unkown
HY-168735	SLC26A4-IN-1	Inhibitor	99.01%	Unkown
HY-184897	YS-01	Inhibitor	/	Unkown
HY-184898	PDSinh-C01	Inhibitor	/	Unkown
HY-RS13138	SLC26A4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-Y1269D	Ammonium chloride, for molecular biology		/	Unkown
HY-RS21256	Slc26a4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27775	Slc26a4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLC26A4	VGNC	VGNC:34779
Felis catus	SLC26A4	VGNC	VGNC:68778
Rattus norvegicus	SLC26A4	RGD	RGD:3293
Macaca mulatta	SLC26A4	VGNC	VGNC:77595
Mus musculus	SLC26A4	MGD	MGI:1346029
Canis familiaris	SLC26A4	VGNC	VGNC:46324
Others	SLC26A4	NCBI