Basic Information

Symbol
SLC4A3
RNA class
mRNA
Alias
Solute Carrier Family 4 Member 3 AE3 SLC2C Solute Carrier Family 4 (Anion Exchanger), Member 3 Cardiac/Brain Band 3-Like Protein Neuronal Band 3-Like Protein Anion Exchanger 3, Neuronal Anion Exchange Protein 3 CAE3/BAE3 Solute Carrier Family 4, Anion Exchanger, Member 3 Anion Exchanger 3 SQT7 AE 3
Location (GRCh38)
2:219627011-219641980
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis Sudden unexpected death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_005070.4
Sequence length
4151.0 nt
GC content
0.6307

Transcripts

ID Sequence Length GC content
NM_001326559.2 NCBI
AGCCCGGCUCUGCGCUGCGAGAGGCCGGACGGCAGUCGCGGCUGCGCUC… 4232 nt 0.6309
NM_005070.4 NCBI
AGCCCGGCUCUGCGCUGCGAGAGGCCGGACGGCAGUCGCGGCUGCGCUC… 4151 nt 0.6307
NM_201574.3 NCBI
AGCCCGGCUCUGCGCUGCGAGAGGCCGGACGGCAGUCGCGGCUGCGCUC… 4172 nt 0.6297
Summary

The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]

Forensic Context

A study in humans performing whole transcriptome sequencing on heart tissue from sudden unexplained death (SUD) cases and controls identified a variant (c.3117C >A, p.(Ser1039Arg)) in the SLC4A3 gene in a specific SUD case (SUDS104) associated with short QT syndrome [Neubauer et al. DOI:10.1007/S00414-025-03414-4].