SLC26A5 (solute carrier family 26 member 5)

2010-03-01 Affiliation

Identity

HGNC

SLC26A5

LOCATION

7q22.1

LOCUSID

375611

ALIAS

DFNB61,PRES

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 375611
MIM: 604943
HGNC: 9359
Ensembl: ENSG00000170615

Variants:

dbSNP: 375611
ClinVar: 375611
TCGA: ENSG00000170615
COSMIC: SLC26A5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000170615	ENST00000306312	P58743
ENSG00000170615	ENST00000339444	P58743
ENSG00000170615	ENST00000354356	Q7Z7F4
ENSG00000170615	ENST00000356767	P58743
ENSG00000170615	ENST00000393723	P58743
ENSG00000170615	ENST00000393727	Q7Z7F4
ENSG00000170615	ENST00000393729	E9PCM2
ENSG00000170615	ENST00000393730	P58743
ENSG00000170615	ENST00000393735	P58743
ENSG00000170615	ENST00000423416	Q496J3
ENSG00000170615	ENST00000432958	P58743
ENSG00000170615	ENST00000445809	F8WD50
ENSG00000170615	ENST00000454864	Q496J0
ENSG00000170615	ENST00000456463	F8WDL4

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
15660259	2005	Regulation of the voltage-gated potassium channel KCNQ4 in the auditory pathway.	25
20668687	2010	Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.	12
17786286	2007	A new mutation in the human pres gene and its effect on prestin function.	7
19027966	2009	Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.	4
19027966	2009	Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.	4
23542924	2013	Generation of somatic electromechanical force by outer hair cells may be influenced by prestin-CASK interaction at the basal junction with the Deiter's cell.	4
29777056	2018	The extracellular loop of pendrin and prestin modulates their voltage-sensing property.	4
18988928	2008	Genetic analysis of presbycusis by arrayed primer extension.	3
12719379	2003	Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.	0
16086836	2005	High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.	0

Citation

Dessen P

SLC26A5 (solute carrier family 26 member 5)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51370/slc26a5-(solute-carrier-family-26-member-5)