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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]
SLC4A11 (Solute Carrier Family 4 Member 11) is a Protein Coding gene. Diseases associated with SLC4A11 include Corneal Dystrophy And Perceptive Deafness and Corneal Endothelial Dystrophy. Gene Ontology (GO) annotations related to this gene include transporter activity and symporter activity. An important paralog of this gene is SLC4A4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005272 | sodium channel activity | IDA | 15525507 |
GO:0005452 | inorganic anion exchanger activity | IEA | -- |
GO:0015106 | bicarbonate transmembrane transporter activity | IDA | 15525507 |
GO:0015252 | proton channel activity | IDA | 15525507 |
GO:0015293 | symporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IBA,ISS | 17715183 |
GO:0012506 | vesicle membrane | ISS | 17715183 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016323 | basolateral plasma membrane | TAS | 15525507 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006814 | sodium ion transport | IDA | 15525507 |
GO:0006820 | anion transport | IEA | -- |
GO:0015698 | inorganic anion transport | IEA | -- |
GO:0015701 | bicarbonate transport | IDA | 15525507 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Boron | Experimental | Pharma | 28 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | · | 16c | · | 16d | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | 19b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
ExUns: | 20 | ^ | 21 | ^ | 22a | · | 22b |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | |||||||
SP3: | |||||||
SP4: | |||||||
SP5: | |||||||
SP6: | |||||||
SP7: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC4A11 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Slc4a11 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc4a11 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC4A11 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC4A11 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC4A11 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC4A11 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC4A11 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc4a11 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slc4a11 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | abts-3 30 31 |
|
OneToMany | |
abts-2 31 |
|
OneToMany | |||
F52D10.1 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BOR1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9446 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
842384 | Likely Pathogenic: not provided | 3,228,836(-) |
AC/A NM_001174089.2(SLC4A11):c.2192+1del |
SPLICE_DONOR | |
843673 | Pathogenic: not provided | 3,233,618(-) |
G/A NM_001174089.2(SLC4A11):c.625C>T (p.Gln209Ter) |
NONSENSE,NON_CODING_TRANSCRIPT | |
846827 | Pathogenic: not provided | 3,237,656(-) |
TC/T NM_001174089.2(SLC4A11):c.44-69del |
FRAMESHIFT_VARIANT,INTRON | |
854242 | Likely Pathogenic: not provided | 3,229,778(-) |
T/C NM_001174089.2(SLC4A11):c.1490-2A>G |
SPLICE_ACCEPTOR | |
855486 | Likely Pathogenic: not provided | 3,228,837(-) |
C/T NM_001174089.2(SLC4A11):c.2192+1G>A |
SPLICE_DONOR |
Disorder | Aliases | PubMed IDs |
---|---|---|
corneal dystrophy and perceptive deafness |
|
|
corneal endothelial dystrophy |
|
|
corneal dystrophy, fuchs endothelial, 4 |
|
|
fuchs' endothelial dystrophy |
|
|
corneal endothelial dystrophy type 2 |
|