Property Summary

NCBI Gene PubMed Count 21
PubMed Score 13.53
PubTator Score 378.44

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma -1.700 2.5e-06
group 3 medulloblastoma -1.700 6.0e-05
atypical teratoid / rhabdoid tumor -1.500 9.9e-06
glioblastoma -1.100 6.6e-03
medulloblastoma, large-cell -1.800 1.1e-04
adult high grade glioma -1.200 4.9e-04
pilocytic astrocytoma -1.200 1.8e-06
lung carcinoma 1.100 8.6e-27

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.
11994299 2002 The extracellular component of a transport metabolon. Extracellular loop 4 of the human AE1 Cl-/HCO3- exchanger binds carbonic anhydrase IV.
11875273 2001 Detection of Cl--HCO3- and Na+-H+ exchangers in human airways epithelium.
11875255 2001 Regulation of Na+-independent Cl-/HCO3- exchangers by pH.
11842009 2002 Identification of an apical Cl(-)/HCO3(-) exchanger in the small intestine.
11739292 2001 Molecular basis for angiotensin II-induced increase of chloride/bicarbonate exchange in the myocardium.
11606574 2001 A transport metabolon. Functional interaction of carbonic anhydrase II and chloride/bicarbonate exchangers.
11248201 2001 Human intestinal anion exchanger isoforms: expression, distribution, and membrane localization.
11208611 2001 Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex.
10732805 1998 Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease.
10362722 1999 Expression of the Na+/H+ and Cl-/HCO-3 exchanger isoforms in proximal and distal human airways.
8227202 1993 Association of the brain anion exchanger, AE3, with the repeat domain of ankyrin.
8001971 1994 Molecular cloning and physical and genetic mapping of the human anion exchanger isoform 3 (SLC2C) gene to chromosome 2q36.
7923606 1994 Molecular cloning, expression, and chromosomal localization of two isoforms of the AE3 anion exchanger from human heart.
2686841 1989 Regulation of intracellular pH by a neuronal homolog of the erythrocyte anion exchanger.