SLC4A3

Summary

SLC4A3 (solute carrier family 4 member 3, HGNC:11029) is a protein-coding gene on chromosome 2q35, encoding Anion exchange protein 3 (P48751). Sodium-independent anion exchanger which mediates the electroneutral exchange of chloride for bicarbonate ions across the cell membrane.

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.

Source: NCBI Gene 6508 — RefSeq curated summary.

At a glance

• Gene–disease (curated): short QT syndrome 7 (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 64
• Clinical variants (ClinVar): 310 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 13
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_005070

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11029
Approved symbol	SLC4A3
Name	solute carrier family 4 member 3
Location	2q35
Locus type	gene with protein product
Status	Approved
Aliases	AE3, SLC2C
Ensembl gene	ENSG00000114923
Ensembl biotype	protein_coding
OMIM	106195
Entrez	6508

Gene structure

Transcript identifiers

Ensembl transcripts: 50 — 46 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000273063, ENST00000317151, ENST00000358055, ENST00000373760, ENST00000413743, ENST00000416910, ENST00000425141, ENST00000444906, ENST00000497589, ENST00000862529, ENST00000862530, ENST00000862531, ENST00000862532, ENST00000862533, ENST00000862534, ENST00000862535, ENST00000862536, ENST00000862537, ENST00000862538, ENST00000862539, ENST00000862540, ENST00000862541, ENST00000862542, ENST00000912189, ENST00000955478, ENST00000955479, ENST00000955480, ENST00000955481, ENST00000955482, ENST00000955483, ENST00000955484, ENST00000955485, ENST00000955486, ENST00000955487, ENST00000955488, ENST00000955489, ENST00000955490, ENST00000955491, ENST00000955492, ENST00000955493, ENST00000955494, ENST00000955495, ENST00000955496, ENST00000955497, ENST00000955498, ENST00000955499, ENST00000955500, ENST00000955501, ENST00000955502, ENST00000955503

RefSeq mRNA: 3 — MANE Select: NM_005070 NM_001326559, NM_005070, NM_201574

CCDS: CCDS2445, CCDS2446

Canonical transcript exons

ENST00000358055 — 23 exons

Exon	Start	End
ENSE00001510617	219641651	219641971
ENSE00001822552	219627630	219627745
ENSE00002470890	219630153	219630352
ENSE00002500565	219628405	219628570
ENSE00002504645	219633274	219633457
ENSE00002511761	219629580	219629695
ENSE00002520253	219632262	219632442
ENSE00002532633	219633880	219633979
ENSE00002720584	219627900	219628043
ENSE00003463130	219640789	219640962
ENSE00003467454	219636680	219636874
ENSE00003510863	219638703	219638869
ENSE00003533369	219635673	219635891
ENSE00003533762	219637581	219637811
ENSE00003538872	219639482	219639735
ENSE00003569142	219635271	219635496
ENSE00003581387	219631968	219632116
ENSE00003595267	219638164	219638253
ENSE00003596137	219634420	219634604
ENSE00003610449	219629144	219629421
ENSE00003622710	219636302	219636450
ENSE00003664343	219640430	219640599
ENSE00003789020	219632874	219633009

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 99.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.2197 / max 320.2260, expressed in 1199 samples.

FANTOM5 promoters (19 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25547	3.1021	1032
25548	1.3015	588
25555	0.3850	25
25543	0.1881	86
25546	0.1696	67
25550	0.1547	55
25544	0.1539	58
25549	0.1502	55
25545	0.1417	69
25551	0.1414	54

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.30	gold quality
right atrium auricular region	UBERON:0006631	98.72	gold quality
cardiac atrium	UBERON:0002081	98.49	gold quality
heart left ventricle	UBERON:0002084	98.42	gold quality
cardiac ventricle	UBERON:0002082	98.35	gold quality
left ovary	UBERON:0002119	97.59	gold quality
right ovary	UBERON:0002118	96.62	gold quality
left ventricle myocardium	UBERON:0006566	95.99	gold quality
heart	UBERON:0000948	95.64	gold quality
heart right ventricle	UBERON:0002080	95.28	gold quality
nucleus accumbens	UBERON:0001882	95.27	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.97	gold quality
myocardium	UBERON:0002349	94.81	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.29	gold quality
putamen	UBERON:0001874	93.71	gold quality
caudate nucleus	UBERON:0001873	93.54	gold quality
pituitary gland	UBERON:0000007	93.30	gold quality
adenohypophysis	UBERON:0002196	93.16	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.86	gold quality
ovary	UBERON:0000992	92.22	gold quality
right frontal lobe	UBERON:0002810	92.14	gold quality
cerebellar hemisphere	UBERON:0002245	91.88	gold quality
cerebellar cortex	UBERON:0002129	91.81	gold quality
anterior cingulate cortex	UBERON:0009835	91.76	gold quality
cingulate cortex	UBERON:0003027	91.74	gold quality
frontal pole	UBERON:0002795	91.71	gold quality
amygdala	UBERON:0001876	91.29	gold quality
middle frontal gyrus	UBERON:0002702	91.10	gold quality
substantia nigra pars compacta	UBERON:0001965	91.09	gold quality
lateral globus pallidus	UBERON:0002476	90.97	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	831.20
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting SLC4A3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-6730-5P	98.03	68.12	1299
HSA-MIR-4642	97.52	67.60	916
HSA-MIR-122-5P	97.23	64.92	1024
HSA-MIR-4433B-3P	97.22	63.62	663
HSA-MIR-3663-5P	97.01	64.84	713

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 5)

• 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. (PMID:19605733)
• 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 (PMID:27211793)
• 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. (PMID:29167417)
• Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome. (PMID:36806574)
• The structural insight into the functional modulation of human anion exchanger 3. (PMID:39033175)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc4a3	ENSDARG00000104005
mus_musculus	Slc4a3	ENSMUSG00000006576
rattus_norvegicus	Slc4a3	ENSRNOG00000020138
drosophila_melanogaster	Ae2	FBGN0036043
drosophila_melanogaster	Ndae1	FBGN0259111
caenorhabditis_elegans	abts-1	WBGENE00009920
caenorhabditis_elegans		WBGENE00019844

Paralogs (9): SLC4A1 (ENSG00000004939), SLC4A7 (ENSG00000033867), SLC4A8 (ENSG00000050438), SLC4A4 (ENSG00000080493), SLC4A11 (ENSG00000088836), SLC4A9 (ENSG00000113073), SLC4A10 (ENSG00000144290), SLC4A2 (ENSG00000164889), SLC4A5 (ENSG00000188687)

Protein

Protein identifiers

Anion exchange protein 3 — P48751 (reviewed: P48751)

Alternative names: CAE3/BAE3, Cardiac/brain band 3-like protein, Neuronal band 3-like protein, Solute carrier family 4 member 3

All UniProt accessions (5): P48751, E9PCP1, F8WD49, H7C160, H7C1Z2

UniProt curated annotations — full annotation on UniProt →

Function. Sodium-independent anion exchanger which mediates the electroneutral exchange of chloride for bicarbonate ions across the cell membrane. May be involved in the regulation of intracellular pH, and the modulation of cardiac action potential.

Subcellular location. Cell membrane Cell membrane.

Tissue specificity. Expressed in the heart. Expressed in the heart.

Disease relevance. Short QT syndrome 7 (SQT7) [MIM:620231] An autosomal dominant form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the anion exchanger (TC 2.A.31) family.

Isoforms (3)

UniProt ID	Names	Canonical?
P48751-1	BAE3	yes
P48751-2	CAE3
P48751-3	3

RefSeq proteins (3): NP_001313488, NP_005061, NP_963868 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001717	Anion_exchange	Family
IPR002979	Anion_exchange_3	Family
IPR003020	HCO3_transpt_euk	Family
IPR011531	HCO3_transpt-like_TM_dom	Domain
IPR013769	Band3_cytoplasmic_dom	Domain
IPR016152	PTrfase/Anion_transptr	Homologous_superfamily
IPR018241	Anion_exchange_CS	Conserved_site

Pfam: PF00955, PF07565

Catalyzed reactions (Rhea), 1 shown:

• hydrogencarbonate(in) + chloride(out) = hydrogencarbonate(out) + chloride(in) (RHEA:72363)

UniProt features (126 total): helix 43, sequence conflict 21, strand 14, compositionally biased region 11, transmembrane region 10, sequence variant 8, modified residue 5, turn 4, region of interest 3, splice variant 3, topological domain 2, chain 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
8Y85	ELECTRON MICROSCOPY	2.73
8Y86	ELECTRON MICROSCOPY	2.75
8Y8K	ELECTRON MICROSCOPY	2.89
8ZLE	ELECTRON MICROSCOPY	3.35

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P48751-F1	67.27	0.28

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 167, 170, 175, 198, 295, 1165

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-425381	Bicarbonate transporters
R-HSA-382551	Transport of small molecules
R-HSA-425393
R-HSA-425407	SLC-mediated transmembrane transport

MSigDB gene sets: 199 (showing top): MORF_RAGE, MORF_FLT1, JI_RESPONSE_TO_FSH_UP, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, MORF_MSH3, GOBP_CIRCULATORY_SYSTEM_PROCESS, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, BASSO_B_LYMPHOCYTE_NETWORK, MODULE_64, MORF_BRCA1, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOCC_CELL_SURFACE, GOBP_INORGANIC_ANION_TRANSPORT

GO Biological Process (13): bicarbonate transport (GO:0015701), pH reduction (GO:0045851), regulation of intracellular pH (GO:0051453), transmembrane transport (GO:0055085), cardiac conduction (GO:0061337), cardiac muscle cell action potential (GO:0086001), regulation of cardiac muscle cell action potential (GO:0098901), transport across blood-brain barrier (GO:0150104), monoatomic ion transport (GO:0006811), monoatomic anion transport (GO:0006820), inorganic anion transport (GO:0015698), monoatomic anion transmembrane transport (GO:0098656), chloride transmembrane transport (GO:1902476)

GO Molecular Function (7): solute:inorganic anion antiporter activity (GO:0005452), bicarbonate transmembrane transporter activity (GO:0015106), transmembrane transporter activity (GO:0022857), chloride:bicarbonate antiporter activity (GO:0140900), protein binding (GO:0005515), monoatomic anion transmembrane transporter activity (GO:0008509), antiporter activity (GO:0015297)

GO Cellular Component (3): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
SLC-mediated transport of inorganic anions	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	4
regulation of pH	2
monoatomic anion transmembrane transport	2
intracellular monoatomic cation homeostasis	1
regulation of biological quality	1
cellular process	1
regulation of heart contraction	1
action potential	1
cardiac muscle cell action potential	1
regulation of action potential	1
vascular transport	1
monoatomic ion transport	1
monoatomic anion transport	1
monoatomic ion transmembrane transport	1
chloride transport	1
antiporter activity	1
bicarbonate transport	1
transmembrane transporter activity	1
transporter activity	1
transmembrane transport	1
solute:inorganic anion antiporter activity	1
chloride transmembrane transporter activity	1
bicarbonate:monoatomic anion antiporter activity	1
binding	1
monoatomic ion transmembrane transporter activity	1
secondary active transmembrane transporter activity	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

838 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC4A3	SLC26A11	Q86WA9	644
SLC4A3	ASIC4	Q96FT7	640
SLC4A3	SLC26A6	Q9BXS9	621
SLC4A3	PNKD	Q8N490	598
SLC4A3	PRCD	Q00LT1	591
SLC4A3	SLC26A9	Q7LBE3	581
SLC4A3	AHCYL1	O43865	548
SLC4A3	SLC1A1	P43005	545
SLC4A3	SLC1A3	P43003	518
SLC4A3	SLC12A2	P55011	489
SLC4A3	SLC26A7	Q8TE54	476
SLC4A3	RABAC1	Q9UI14	472
SLC4A3	SLC9A1	P19634	463
SLC4A3	LURAP1L	Q8IV03	454
SLC4A3	PRKACA	P17612	453
SLC4A3	PRKACB	P22694	453

IntAct

8 interactions, top by confidence:

A	B	Type	Score
SLC4A3	TRAF2	psi-mi:“MI:0915”(physical association)	0.560
SLC4A3	GAPDH	psi-mi:“MI:0915”(physical association)	0.400
SLC4A3	DRD2	psi-mi:“MI:0915”(physical association)	0.370
SLC4A3	AHCYL1	psi-mi:“MI:0914”(association)	0.350
UBASH3A	SLC4A3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): SLC4A3 (Affinity Capture-MS), SLC4A3 (Proximity Label-MS), SLC4A3 (Two-hybrid), SLC4A3 (Affinity Capture-RNA), ANK1 (Affinity Capture-Western), SLC4A3 (Two-hybrid), SLC4A3 (Cross-Linking-MS (XL-MS)), SLC4A3 (Cross-Linking-MS (XL-MS)), AHCYL1 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), ERLIN1 (Affinity Capture-MS), ERLIN2 (Affinity Capture-MS), SLC4A3 (Proximity Label-MS)

ESM2 similar proteins: A0A096X8J7, B1MTL0, E9Q3M5, G3X939, M5A7P9, O13134, O18917, O88343, P04919, P13808, P16283, P19334, P23347, P23348, P23562, P23685, P26433, P32418, P32847, P34586, P48746, P48751, P48765, P48766, P48767, P48994, P70414, P90895, Q01728, Q28362, Q2Y0W8, Q32LP4, Q4U116, Q5DTL9, Q5RB85, Q5RD44, Q6RI88, Q6RVG2, Q6SJP2, Q6U841

Diamond homologs: A0A096X8J7, A0A494BA31, B1MTL0, E9Q3M5, O13134, O18917, O88343, P02730, P04919, P04920, P13808, P15575, P16283, P23347, P23348, P23562, P32847, P48746, P48751, Q2Y0W8, Q32LP4, Q4U116, Q5DTL9, Q5RB85, Q5RD44, Q6RI88, Q6RVG2, Q6SJP2, Q6U841, Q80ZA5, Q8BTY2, Q8JZR6, Q8K4V2, Q96Q91, Q9BY07, Q9GKY1, Q9GL77, Q9JI66, Q9R1N3, Q9XSZ4

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
PRKCE	“up-regulates activity”	SLC4A3	phosphorylation
SLC4A3	“down-regulates quantity”	hydrogencarbonate	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

310 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	215
Likely benign	34
Benign	24

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2443882	NM_005070.4(SLC4A3):c.1028G>A (p.Arg343His)	Pathogenic
3374734	NM_005070.4(SLC4A3):c.1027C>T (p.Arg343Cys)	Likely pathogenic

SpliceAI

4421 predictions. Top by Δscore:

Variant	Effect	Δscore
2:219627743:GAGG:G	donor_loss	1.0000
2:219627744:AGG:A	donor_loss	1.0000
2:219627746:GT:G	donor_loss	1.0000
2:219627747:T:G	donor_loss	1.0000
2:219630348:GAAGA:G	donor_gain	1.0000
2:219630351:GA:G	donor_gain	1.0000
2:219630353:G:GG	donor_gain	1.0000
2:219631962:CTGCA:C	acceptor_loss	1.0000
2:219631963:TGCA:T	acceptor_loss	1.0000
2:219631964:GCA:G	acceptor_loss	1.0000
2:219631965:CA:C	acceptor_loss	1.0000
2:219631966:A:AG	acceptor_gain	1.0000
2:219631966:A:AT	acceptor_loss	1.0000
2:219631967:G:GA	acceptor_gain	1.0000
2:219632116:GG:G	donor_loss	1.0000
2:219632122:G:GT	donor_gain	1.0000
2:219632258:CCA:C	acceptor_loss	1.0000
2:219632260:A:AC	acceptor_loss	1.0000
2:219632260:AGGT:A	acceptor_gain	1.0000
2:219632261:GGT:G	acceptor_gain	1.0000
2:219632261:GGTG:G	acceptor_gain	1.0000
2:219632349:G:GT	donor_gain	1.0000
2:219632358:G:GT	donor_gain	1.0000
2:219632378:G:GT	donor_gain	1.0000
2:219632378:G:T	donor_gain	1.0000
2:219632426:G:GT	donor_gain	1.0000
2:219632440:ATGGT:A	donor_loss	1.0000
2:219632443:G:GA	donor_loss	1.0000
2:219632443:G:GG	donor_gain	1.0000
2:219632444:T:A	donor_loss	1.0000

AlphaMissense

7969 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:219632265:T:C	F322L	1.000
2:219632266:T:C	F322S	1.000
2:219632266:T:G	F322C	1.000
2:219632267:C:A	F322L	1.000
2:219632267:C:G	F322L	1.000
2:219632275:T:C	L325P	1.000
2:219632313:T:A	W338R	1.000
2:219632313:T:C	W338R	1.000
2:219632314:G:C	W338S	1.000
2:219632315:G:C	W338C	1.000
2:219632315:G:T	W338C	1.000
2:219632321:G:C	E340D	1.000
2:219632321:G:T	E340D	1.000
2:219632325:G:C	A342P	1.000
2:219632326:C:A	A342D	1.000
2:219632328:C:A	R343S	1.000
2:219632329:G:C	R343P	1.000
2:219632331:T:A	W344R	1.000
2:219632331:T:C	W344R	1.000
2:219632332:G:C	W344S	1.000
2:219632333:G:C	W344C	1.000
2:219632333:G:T	W344C	1.000
2:219632335:T:C	I345T	1.000
2:219632335:T:G	I345S	1.000
2:219632340:T:C	F347L	1.000
2:219632342:T:A	F347L	1.000
2:219632342:T:G	F347L	1.000
2:219632345:G:C	E348D	1.000
2:219632345:G:T	E348D	1.000
2:219632373:T:A	W358R	1.000

dbSNP variants (sampled 300 via entrez): RS1000022130 (2:219636626 T>A,C), RS1000081988 (2:219633690 G>A,T), RS1001062587 (2:219640337 G>A,T), RS1001676110 (2:219630728 A>C), RS1002058234 (2:219625636 G>A), RS1002366729 (2:219637884 C>A,T), RS1002597761 (2:219626502 CTT>C), RS1002811416 (2:219631704 T>A), RS1002888139 (2:219634278 C>A,T), RS1003030656 (2:219640293 A>G), RS1003113059 (2:219631700 TGGCTGG>T), RS1003371577 (2:219639317 T>A,C), RS1003466703 (2:219639043 G>T), RS1003927424 (2:219635999 G>A,C), RS1003946957 (2:219641866 G>T)

Disease associations

OMIM: gene MIM:106195 | disease phenotypes: MIM:620231

GenCC curated gene-disease

Disease	Classification	Inheritance
short QT syndrome 7	Strong	Autosomal dominant
autosomal dominant distal renal tubular acidosis	Strong	Autosomal dominant
short QT syndrome	Moderate	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
short QT syndrome	Moderate	AD

Mondo (5): short QT syndrome 7 (MONDO:0859368), cardiac rhythm disease (MONDO:0007263), cardiomyopathy (MONDO:0004994), short QT syndrome (MONDO:0000453), autosomal dominant distal renal tubular acidosis (MONDO:0008368)

Orphanet (1): Rare cardiomyopathy (Orphanet:167848)

HPO phenotypes

13 total (13 of 13 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001279	Syncope
HP:0001645	Sudden cardiac death
HP:0001662	Bradycardia
HP:0001663	Ventricular fibrillation
HP:0001678	Atrioventricular block
HP:0001695	Cardiac arrest
HP:0001962	Palpitations
HP:0003621	Juvenile onset
HP:0004308	Ventricular arrhythmia
HP:0005110	Atrial fibrillation
HP:0011462	Young adult onset
HP:0012232	Shortened QT interval

GWAS associations

64 associations (top):

Study	Trait	p-value
GCST002441_10	Immune response to measles-mumps-rubella vaccine	2.000000e-07
GCST010796_1356	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_1357	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-09
GCST010796_1358	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_1359	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_1360	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_1361	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-10
GCST010796_1362	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_1363	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-11
GCST010796_1364	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-12
GCST010796_1365	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-12
GCST010796_1366	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_1367	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-11
GCST010796_1368	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-12
GCST010796_1369	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-12
GCST010796_1370	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-11
GCST010796_1371	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-12
GCST010796_1372	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-12
GCST010796_1373	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-13
GCST010796_1374	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-13
GCST010796_1375	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-13
GCST010796_1376	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-15
GCST010796_1377	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-15
GCST010796_1378	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-14
GCST010796_1379	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-14
GCST010796_1380	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-13
GCST010796_1381	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-13
GCST010796_1382	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-12
GCST010796_1501	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-14
GCST010796_1502	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-14

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0004327	electrocardiography
EFO:0004682	QT interval

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D009202	Cardiomyopathies	C14.280.238
C580439	Short Qt Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — Anion exchangers

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, increases expression	2
aminomethylphosphonic acid (AMPA)	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
boric acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	affects expression	1
Estradiol	affects cotreatment, increases expression	1
Folic Acid	decreases expression	1
Niclosamide	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
2,4-Dichlorophenoxyacetic Acid	increases expression	1
Cyclosporine	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4PS	HCT116-SLC4A3-KO-c12	Cancer cell line	Male
CVCL_D4PT	HCT116-SLC4A3-KO-c8	Cancer cell line	Male
CVCL_TN92	HAP1 SLC4A3 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

301 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00146822	PHASE4	COMPLETED	REFLEx Study (ENDOTAK RELIANCE G Evaluation of Handling and Electrical Performance
NCT00187239	PHASE4	COMPLETED	Reduce Ventricular Pacing in Dual Chamber Implantable Cardioverter Defibrillators Using AutoIntrinsic Conduction Search Study
NCT00247533	PHASE4	UNKNOWN	Cerebral Artery Stenosis, Coronary Artery Disease and Arrhythmia
NCT00282620	PHASE4	UNKNOWN	Magnesium to Reduce Implantable Cardioverter Defibrillator (ICD) Shocks and Improve Patient’s Quality of Life.
NCT00290056	PHASE4	UNKNOWN	Effect of Supplemental Intake of Omega-3 Polyunsaturated Fatty Acids on the Rate and Complexity of Spontaneously Occurring Ventricular and Supraventricular Arrhythmias in Patients With Implantable Cardioverter Defibrillator (ICD) - A Randomized Clinical Trial
NCT00313443	PHASE4	COMPLETED	Concentrations of Amiodarone in Fat Tissue During Chronic Treatment
NCT00457340	PHASE4	COMPLETED	Atorvastatin For The Reduction Of Ventricular Arrhythmias
NCT00507390	PHASE4	WITHDRAWN	Omega 3 Polyunsaturated Fatty Acid Supplements (PUFAs) and Microvolt T Wave Alternans (TWA) in Patients With Ventricular Arrhythmia
NCT00575523	PHASE4	COMPLETED	Atropine for Prevention of Dysrhythmias Caused by Percutaneous Ethanol Instillation for Hepatoma Therapy
NCT00579098	PHASE4	COMPLETED	The Use of Statins Following a Left Atrial Catheter Ablation Procedure to Prevent Atrial Fibrillation
NCT01613092	PHASE4	COMPLETED	Prevention of Arrhythmia Device Infection Trial (PADIT)
NCT01628666	PHASE4	COMPLETED	Prevention of Arrhythmia Device Infection Trial (PADIT)
NCT01717469	PHASE4	UNKNOWN	Safety and the Effects of Isolated Left Ventricular Pacing in Patients With Bradyarrhythmias
NCT01819064	PHASE4	COMPLETED	Heart Rate Response to Atropine Doses Less Than 0.1mg IV to Anesthetized Infants
NCT01834872	PHASE4	UNKNOWN	Safety and Feasibility of Arrhythmia Ablation Using the Amigo Remote Robotic System as Compared With Manual Ablation
NCT01841242	PHASE4	COMPLETED	Comparison of Alcoholic Chlorhexidine 2% Versus Alcoholic Povidone Iodine for Infections Prevention With Cardiac Resynchronization Therapy Device Implantation
NCT01991223	PHASE4	UNKNOWN	Dexmedetomidine for Catheter-related Bladder Discomfort
NCT02045173	PHASE4	COMPLETED	Automate Detection of Sleep Apnea by ApneascanTM
NCT02203630	PHASE4	TERMINATED	Phenylephrine Versus Norepinephrine for Septic Shock in Critically Ill Patients
NCT02565069	PHASE4	COMPLETED	Identification for the Treatment of Complex Arrhythmias
NCT03273634	PHASE4	COMPLETED	The Effect of Proton Pump Inhibition on Palpitations
NCT03289429	PHASE4	UNKNOWN	Antiarrhythmic and Cardioprotective Effects of Atorvastatin Versus Magnesium Sulfate in Cardiac Valve Replacement Surgery
NCT03895411	PHASE4	UNKNOWN	Efficacy and Safety of Sotalol in Children With Arrhythmia
NCT05486377	PHASE4	COMPLETED	Remimazolam vs Desflurane for General Anesthesia for Ablation of Arrhythmia
NCT06574555	PHASE4	COMPLETED	Norepinephrine ED90 Bolus After Spinal Anesthesia in Cesarean Section
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)