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
165700742006SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.62
197306832009The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.59
175033242007Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).55
118347422002Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9.54
192049072009Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?53
192049072009Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?53
177188632007A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.49
177188632007A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.49
197443342009Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.49
184247492008Identification of pendrin as a common mediator for mucus production in bronchial asthma and chronic obstructive pulmonary disease.45

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/slc26a4-(solute-carrier-family-26-member-4)