| Type | Description |
|---|---|
| Definition | solute carrier family 4 member 3 |
| Date | Results | Publications |
|---|---|---|
| 2018-10-06 10:19:00 | Identify a missense mutation in the anion exchanger (AE3)-encoding SLC4A3 gene in two unrelated families with short QT syndrome. The mutation causes reduced surface expression of AE3 and reduced membrane bicarbonate transport. | 29167417 |
| 2016-10-29 11:51:00 | SLC4A3 remains an excellent candidate gene for human retinal degeneration, and with the advent of whole exome and whole genome sequencing of cohorts of molecularly unsolved patients with syndromic and non-syndromic forms of retinal degeneration | 27211793 |
| 2010-01-21 00:00:00 | It was concluded that the A867D allele is a functional mutant of AE3 and that the decreased activity of this mutation may cause changes in cell volume and abnormal intracellular pH. | 19605733 |
| 2009-12-02 21:41:00 | Observational study of gene-disease association. (HuGE Navigator) | 19854014 |
| Type | IDs |
|---|---|
| Synonymous | AE3, CAE3/BAE3, SLC2C |
| Gene |
UniProtKB-ID:
B3A3_HUMAN
UniprotKB:
P48751
UniParc:
UPI0001E24F14,
UPI000022BE50,
UPI000013D998
EMBL:
L27213,
BC136384,
AC009955,
CH471063,
U05596,
BC146656,
AK289974,
BC171760,
AY142112
Ensembl:
ENSG00000114923
KO:
hsa:6508
|
| Nucleutide sequences |
EMBL-CDS:
AAI36385.1,
AAA50748.1,
AAI46657.1,
AAI71760.1,
AAN34939.1,
EAW70778.1,
BAF82663.1,
AAB05850.1
Ensembl_TRS:
ENST00000317151,
ENST00000358055,
ENST00000273063,
ENST00000373760
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000273063,
ENSP00000350756,
ENSP00000362865,
ENSP00000314006
RefSeq:
NP_001313488.2,
NP_963868.3,
XP_011509967.1,
XP_011509969.1,
XP_005246847.1,
NP_005061.3
|
| Others |
UniRef100:
UniRef100_P48751
UniRef90:
UniRef90_P48751
UniRef50:
UniRef50_P48751
UniGene:
Hs.1176
CCDS:
CCDS2445.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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