SLC4A11 (solute carrier family 4 member 11)

2018-02-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
BTR1,CDPD1,CHED,CHED2,NABC1,dJ794I6.2

Other Information

Locus ID:

NCBI: 83959
MIM: 610206
HGNC: 16438
Ensembl: ENSG00000088836

Variants:

dbSNP: 83959
ClinVar: 83959
TCGA: ENSG00000088836
COSMIC: SLC4A11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000088836ENST00000380056Q8NBS3
ENSG00000088836ENST00000380059Q8NBS3
ENSG00000088836ENST00000437836V9GXZ2
ENSG00000088836ENST00000474451V9GYK6
ENSG00000088836ENST00000642402Q8NBS3
ENSG00000088836ENST00000644011A0A2R8Y7S1
ENSG00000088836ENST00000644692A0A2R8Y4A6
ENSG00000088836ENST00000644862A0A2R8YEG3
ENSG00000088836ENST00000645524A0A2R8Y6X5
ENSG00000088836ENST00000647296A0A2R8YFD9

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
180249642008SLC4A11 mutations in Fuchs endothelial corneal dystrophy.93
167671012006Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).81
208485552010Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.50
172202092007Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.45
168254292007Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.35
238139722013Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases.29
238646062013SLC4A11 is an EIPA-sensitive Na(+) permeable pHi regulator.25
176799352007Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy.24
173970482007Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.22
176676342007Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11.22

Citation

Dessen P

SLC4A11 (solute carrier family 4 member 11)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57323/slc4a11