SLC26A4 - solute carrier family 26 member 4 Gene

Homo sapiens

Also known as EVA; PDS; DFNB4; TDH2B

Gene ID: 5172 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in iodide transport	IMP IMP: Inferred from mutant phenotype	16684826	GOA

Cellular Component GO Annotation	Evidence	Reference	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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-159706	S9-A13	Inhibitor	/	Unkown
HY-RS13138	SLC26A4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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