SLC26A4 (solute carrier family 26 member 4)

2007-02-01  

Identity

HGNC
SLC26A4
LOCATION
7q22.3
LOCUSID
5172
ALIAS
DFNB4,EVA,PDS,TDH2B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5172
MIM: 605646
HGNC: 8818
Ensembl: ENSG00000091137

Variants:

dbSNP: 5172
ClinVar: 5172
TCGA: ENSG00000091137
COSMIC: SLC26A4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000091137ENST00000440056C9JQG1
ENSG00000091137ENST00000644269O43511
ENSG00000091137ENST00000644846A0A2R8Y4W7

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Thyroid hormone synthesisKEGGhsa04918
Thyroid hormone synthesisKEGGko04918
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Multifunctional anion exchangersREACTOMER-HSA-427601

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
374776852024The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.0
380295952024Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.0
381107442024Pendrin: linking acid base to blood pressure.1
383786132024Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.0
384740072024Functional Studies of Deafness-Associated Pendrin and Prestin Variants.1
386737752024Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs.1
387200482024Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.0
374776852024The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.0
380295952024Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.0
381107442024Pendrin: linking acid base to blood pressure.1
383786132024Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.0
384740072024Functional Studies of Deafness-Associated Pendrin and Prestin Variants.1
386737752024Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs.1
387200482024Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.0
367481522023[Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant].0

Citation

Dessen P

SLC26A4 (solute carrier family 26 member 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45937/img/favicon/teaching-explorer/