SLC4A11

GENE INFORMATION

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Gene name

SLC4A11 (HGNC Symbol)

Synonyms

BTR1, CDPD1, CHED2, dJ794I6.2, FECD4, NaBC1

Description

Solute carrier family 4, sodium borate transporter, member 11 (HGNC Symbol)

Entrez gene summary

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]

Chromosome

20

Cytoband

p13

Chromosome location (bp)

3227417 - 3239190

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000088836 (version 78.38)

Entrez gene

83959

UniProt

Q8NBS3 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NBS3

Antibodypedia

SLC4A11 antibodies
 

PROTEIN VIEW

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SLC4A11-001
 
SLC4A11-002
 
SLC4A11-003
 
SLC4A11-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SLC4A11-001 ENSP00000369399
ENST00000380059
Q8NBS3
Show all »
Show » Show » 918 103.1 No >9
SLC4A11-002 ENSP00000369396
ENST00000380056
Q8NBS3
Show all »
Show » Show » 891 99.6 No >9
SLC4A11-003 ENSP00000441370
ENST00000539553
Q8NBS3
Show all »
Show » Show » 875 98.2 No >9
SLC4A11-007 ENSP00000404271
ENST00000437836
V9GXZ2
Show all »
Show » 105 11.8 No 0