SLC4A11
Sign in to saveAlso known as BTR1, CDPD1, CHED2, NABC1, dJ794I6.2, CHED, solute carrier family 4 member 11
protein-coding gene in the species Homo sapiens
Gene data
SLC4A11- Name
- solute carrier family 4 member 11
- Type
- protein-coding
- Position
- 3,227,417–3,239,580 (−)
- Aliases
- BTR1, CDPD1, CHED, CHED2, NABC1, dJ794I6.2
- Ensembl
- ENSG00000088836
- RefSeq RNA
- NM_001174089.2, NM_001174090.2, NM_001363745.2, NM_001400277.1, NM_001400278.1
- RefSeq protein
- NP_001167560.1, NP_001167561.1, NP_001350674.1, NP_001387206.1, NP_001387207.1
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].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
solute carrier family 4 member 11
- Symbol
- SLC4A11
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 20:3,227,417-3,239,580
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 12931
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/83959
- chromosome
- human chromosome 20
- genomic start
- 3208063
- genomic end
- 3239559
- cytogenetic location
- 20p13
- genetic association
- Fuchs' endothelial dystrophy
via Wikidata · CC0