Property Summary

NCBI Gene PubMed Count 21
PubMed Score 13.53
PubTator Score 378.44

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma -1.700 0.000
group 3 medulloblastoma -1.700 0.000
atypical teratoid / rhabdoid tumor -1.500 0.000
glioblastoma -1.100 0.007
medulloblastoma, large-cell -1.800 0.000
adult high grade glioma -1.200 0.000
pilocytic astrocytoma -1.200 0.000
lung carcinoma 1.100 0.000

Synonym

Accession P48751 A6H8L2 A8K1Q9 B7ZVX6 B9EGD1 Q6YIQ9 AE 3
Symbols AE3
SLC2C
CAE3/BAE3

Gene

PANTHER Protein Class (1)

Gene RIF (3)

PMID Text
27211793 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
19854014 Observational study of gene-disease association. (HuGE Navigator)
19605733 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.

AA Sequence

MANGVIPPPGGASPLPQVRVPLEEPPLSPDVEEEDDDLGKTLAVSRFGDLISKPPAWDPEKPSRSYSERD      1 - 70
FEFHRHTSHHTHHPLSARLPPPHKLRRLPPTSARHTRRKRKKEKTSAPPSEGTPPIQEEGGAGVDEEEEE     71 - 140
EEEEEGESEAEPVEPPHSGTPQKAKFSIGSDEDDSPGLPGRAAVTKPLPSVGPHTDKSPQHSSSSPSPRA    141 - 210
RASRLAGEKSRPWSPSASYDLRERLCPGSALGNPGGPEQQVPTDEAEAQMLGSADLDDMKSHRLEDNPGV    211 - 280
RRHLVKKPSRTQGGRGSPSGLAPILRRKKKKKKLDRRPHEVFVELNELMLDRSQEPHWRETARWIKFEED    281 - 350
VEEETERWGKPHVASLSFRSLLELRRTIAHGAALLDLEQTTLPGIAHLVVETMIVSDQIRPEDRASVLRT    351 - 420
LLLKHSHPNDDKDSGFFPRNPSSSSMNSVLGNHHPTPSHGPDGAVPTMADDLGEPAPLWPHDPDAKEKPL    421 - 490
HMPGGDGHRGKSLKLLEKIPEDAEATVVLVGCVPFLEQPAAAFVRLNEAVLLESVLEVPVPVRFLFVMLG    491 - 560
PSHTSTDYHELGRSIATLMSDKLFHEAAYQADDRQDLLSAISEFLDGSIVIPPSEVEGRDLLRSVAAFQR    561 - 630
ELLRKRREREQTKVEMTTRGGYTAPGKELSLELGGSEATPEDDPLLRTGSVFGGLVRDVRRRYPHYPSDL    631 - 700
RDALHSQCVAAVLFIYFAALSPAITFGGLLGEKTEGLMGVSELIVSTAVLGVLFSLLGAQPLLVVGFSGP    701 - 770
LLVFEEAFFKFCRAQDLEYLTGRVWVGLWLVVFVLALVAAEGSFLVRYISPFTQEIFAFLISLIFIYETF    771 - 840
YKLYKVFTEHPLLPFYPPEGALEGSLDAGLEPNGSALPPTEGPPSPRNQPNTALLSLILMLGTFFIAFFL    841 - 910
RKFRNSRFLGGKARRIIGDFGIPISILVMVLVDYSITDTYTQKLTVPTGLSVTSPDKRSWFIPPLGSARP    911 - 980
FPPWMMVAAAVPALLVLILIFMETQITALIVSQKARRLLKGSGFHLDLLLIGSLGGLCGLFGLPWLTAAT    981 - 1050
VRSVTHVNALTVMRTAIAPGDKPQIQEVREQRVTGVLIASLVGLSIVMGAVLRRIPLAVLFGIFLYMGVT   1051 - 1120
SLSGIQLSQRLLLILMPAKHHPEQPYVTKVKTWRMHLFTCIQLGCIALLWVVKSTAASLAFPFLLLLTVP   1121 - 1190
LRHCLLPRLFQDRELQALDSEDAEPNFDEDGQDEYNELHMPV                               1191 - 1232
//

Text Mined References (24)

PMID Year Title
27211793 2016 Investigation of SLA4A3 as a candidate gene for human retinal disease.
24811271 2014 Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.
22576912 2012 Boric acid increases the expression levels of human anion exchanger genes SLC4A2 and SLC4A3.
19854014 2010 Genetic susceptibility to febrile seizures: case-control association studies.
19605733 2009 Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12027221 The AE gene family of Cl/HCO3- exchangers.
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