SLC24A3
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Summary
SLC24A3 (solute carrier family 24 member 3, HGNC:10977) is a protein-coding gene on chromosome 20p11.23, encoding Sodium/potassium/calcium exchanger 3 (Q9HC58). Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).
Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).
Source: NCBI Gene 57419 — RefSeq curated summary.
At a glance
- GWAS associations: 56
- Clinical variants (ClinVar): 98 total
- MANE Select transcript:
NM_020689
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10977 |
| Approved symbol | SLC24A3 |
| Name | solute carrier family 24 member 3 |
| Location | 20p11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000185052 |
| Ensembl biotype | protein_coding |
| OMIM | 609839 |
| Entrez | 57419 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000328041, ENST00000962751
RefSeq mRNA: 1 — MANE Select: NM_020689
NM_020689
CCDS: CCDS13140
Canonical transcript exons
ENST00000328041 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001294995 | 19717528 | 19717593 |
| ENSE00001299918 | 19693259 | 19693425 |
| ENSE00001300255 | 19280959 | 19281087 |
| ENSE00001304840 | 19681858 | 19681991 |
| ENSE00001305231 | 19685100 | 19685361 |
| ENSE00001306774 | 19515488 | 19515564 |
| ENSE00001308601 | 19665864 | 19665889 |
| ENSE00001311193 | 19654062 | 19654136 |
| ENSE00001311618 | 19698568 | 19698680 |
| ENSE00001314541 | 19673601 | 19673654 |
| ENSE00001319993 | 19720991 | 19722926 |
| ENSE00001320557 | 19684176 | 19684336 |
| ENSE00001328703 | 19584971 | 19585055 |
| ENSE00001594215 | 19585441 | 19585544 |
| ENSE00001669029 | 19696797 | 19696911 |
| ENSE00001704017 | 19212642 | 19212984 |
| ENSE00001747414 | 19580000 | 19580074 |
Expression profiles
Bgee: expression breadth ubiquitous, 272 present calls, max score 97.87.
FANTOM5 (CAGE): breadth broad, TPM avg 4.1154 / max 339.1804, expressed in 624 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 183706 | 2.0174 | 412 |
| 183703 | 1.1265 | 421 |
| 183705 | 0.5792 | 255 |
| 183704 | 0.3923 | 198 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lateral nuclear group of thalamus | UBERON:0002736 | 97.87 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 95.06 | gold quality |
| saphenous vein | UBERON:0007318 | 93.51 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 93.27 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 93.20 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 93.11 | gold quality |
| squamous epithelium | UBERON:0006914 | 92.89 | gold quality |
| triceps brachii | UBERON:0001509 | 92.45 | gold quality |
| gingiva | UBERON:0001828 | 92.32 | gold quality |
| quadriceps femoris | UBERON:0001377 | 92.25 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.24 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.16 | gold quality |
| myometrium | UBERON:0001296 | 91.44 | gold quality |
| decidua | UBERON:0002450 | 91.24 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 90.95 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 90.91 | gold quality |
| left uterine tube | UBERON:0001303 | 90.87 | gold quality |
| body of uterus | UBERON:0009853 | 90.71 | gold quality |
| gluteal muscle | UBERON:0002000 | 90.67 | gold quality |
| urethra | UBERON:0000057 | 90.66 | gold quality |
| cervix epithelium | UBERON:0004801 | 89.95 | gold quality |
| Ammon’s horn | UBERON:0001954 | 89.91 | gold quality |
| right coronary artery | UBERON:0001625 | 89.36 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 89.24 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 89.12 | gold quality |
| cerebellar vermis | UBERON:0004720 | 88.34 | gold quality |
| uterus | UBERON:0000995 | 88.17 | gold quality |
| deltoid | UBERON:0001476 | 88.04 | gold quality |
| popliteal artery | UBERON:0002250 | 87.94 | gold quality |
| tibial artery | UBERON:0007610 | 87.93 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 4909.78 |
| E-HCAD-30 | yes | 356.11 |
| E-HCAD-35 | yes | 63.39 |
| E-ANND-3 | yes | 16.48 |
| E-GEOD-81383 | no | 15.18 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
6 targets.
| Target | Regulation |
|---|---|
| CALB1 | Repression |
| NR3C1 | Repression |
| PTH1R | Activation |
| S100G | Activation |
| TRPV5 | Repression |
| TRPV6 | Activation |
Upstream regulators (CollecTRI, top): GATA3
miRNA regulators (miRDB)
142 targeting SLC24A3, 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-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
Literature-anchored findings (GeneRIF, showing 2)
- Plasma membrane ion transporter.Displayed K(+)-dependent Na(+)/Ca(2+) exchanger activity when assayed in heterologous expression systems, using digital imaging of fura-2 fluorescence, electrophysiology, or radioactive (45)Ca(2+) uptake. (PMID:11294880)
- NCKX3 is abundantly expressed within the human endometrium at the transcriptional and translational levels, and its level is regulated by steroid hormones (particularly estradiol) during the human menstrual cycle. (PMID:21321244)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc24a3 | ENSDARG00000006760 |
| mus_musculus | Slc24a3 | ENSMUSG00000063873 |
| rattus_norvegicus | Slc24a3 | ENSRNOG00000060687 |
| drosophila_melanogaster | CG17167 | FBGN0039941 |
| drosophila_melanogaster | CG12061 | FBGN0040031 |
| drosophila_melanogaster | zyd | FBGN0265767 |
Paralogs (4): SLC24A1 (ENSG00000074621), SLC24A4 (ENSG00000140090), SLC24A2 (ENSG00000155886), SLC24A5 (ENSG00000188467)
Protein
Protein identifiers
Sodium/potassium/calcium exchanger 3 — Q9HC58 (reviewed: Q9HC58)
Alternative names: Na(+)/K(+)/Ca(2+)-exchange protein 3, Solute carrier family 24 member 3
All UniProt accessions (1): Q9HC58
UniProt curated annotations — full annotation on UniProt →
Function. Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).
Subcellular location. Cell membrane.
Tissue specificity. Abundant in the brain. Expressed at low levels in the aorta, uterus and intestine.
Similarity. Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily.
RefSeq proteins (1): NP_065740* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004481 | K/Na/Ca-exchanger | Family |
| IPR004837 | NaCa_Exmemb | Domain |
| IPR044880 | NCX_ion-bd_dom_sf | Homologous_superfamily |
Pfam: PF01699
Catalyzed reactions (Rhea), 1 shown:
- Ca(2+)(out) + K(+)(out) + 4 Na(+)(in) = Ca(2+)(in) + K(+)(in) + 4 Na(+)(out) (RHEA:69967)
UniProt features (34 total): topological domain 11, transmembrane region 10, sequence variant 4, repeat 2, glycosylation site 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HC58-F1 | 70.31 | 0.29 |
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 (1): 308
Glycosylation sites (2): 71, 86
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-425561 | Sodium/Calcium exchangers |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425393 | |
| R-HSA-425407 | SLC-mediated transmembrane transport |
MSigDB gene sets: 223 (showing top):
GOBP_POTASSIUM_ION_TRANSPORT, RNGTGGGC_UNKNOWN, CLAUS_PGR_POSITIVE_MENINGIOMA_UP, ELVIDGE_HYPOXIA_DN, RRAGTTGT_UNKNOWN, AAGCAAT_MIR137, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GCANCTGNY_MYOD_Q6, AREB6_03, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, CAGCTG_AP4_Q5, GOBP_MONOATOMIC_CATION_TRANSPORT
GO Biological Process (13): monoatomic ion transport (GO:0006811), intracellular calcium ion homeostasis (GO:0006874), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), bone mineralization (GO:0030282), sodium ion transmembrane transport (GO:0035725), calcium ion transmembrane transport (GO:0070588), potassium ion transmembrane transport (GO:0071805), transport across blood-brain barrier (GO:0150104), potassium ion transport (GO:0006813), sodium ion transport (GO:0006814), calcium ion transport (GO:0006816), transmembrane transport (GO:0055085)
GO Molecular Function (4): calcium channel activity (GO:0005262), calcium, potassium:sodium antiporter activity (GO:0008273), symporter activity (GO:0015293), antiporter activity (GO:0015297)
GO Cellular Component (3): plasma membrane (GO:0005886), cell periphery (GO:0071944), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metal ion SLC transporters | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| monoatomic cation transmembrane transport | 3 |
| metal ion transport | 3 |
| transport | 2 |
| gene expression | 2 |
| regulation of gene expression | 2 |
| secondary active transmembrane transporter activity | 2 |
| cellular anatomical structure | 2 |
| intracellular monoatomic cation homeostasis | 1 |
| calcium ion homeostasis | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| negative regulation of macromolecule biosynthetic process | 1 |
| ossification | 1 |
| biomineral tissue development | 1 |
| sodium ion transport | 1 |
| calcium ion transport | 1 |
| potassium ion transport | 1 |
| vascular transport | 1 |
| cellular process | 1 |
| monoatomic cation channel activity | 1 |
| calcium ion transmembrane transporter activity | 1 |
| calcium:sodium antiporter activity | 1 |
| solute:potassium antiporter activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1301 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC24A3 | OR8G5 | Q8NG78 | 514 |
| SLC24A3 | ZNF133 | P52736 | 494 |
| SLC24A3 | RBBP9 | O75884 | 488 |
| SLC24A3 | DENND5B | Q6ZUT9 | 443 |
| SLC24A3 | ITFG1 | Q8TB96 | 433 |
| SLC24A3 | TMEM212 | A6NML5 | 428 |
| SLC24A3 | KCNK18 | Q7Z418 | 421 |
| SLC24A3 | KAT14 | Q9H8E8 | 418 |
| SLC24A3 | KCNK5 | O95279 | 417 |
| SLC24A3 | CDC42EP1 | Q00587 | 401 |
| SLC24A3 | KCNK10 | P57789 | 395 |
| SLC24A3 | CCDC15 | Q0P6D6 | 390 |
| SLC24A3 | CFAP61 | Q8NHU2 | 389 |
| SLC24A3 | SPATC1 | Q76KD6 | 380 |
| SLC24A3 | AKT3 | Q9Y243 | 371 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC24A3 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| SLC24A3 | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (48): FADS1 (Affinity Capture-MS), SLC30A5 (Affinity Capture-MS), UBXN8 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), GPR89A (Affinity Capture-MS), ELOVL4 (Affinity Capture-MS), SLC35B2 (Affinity Capture-MS), LDHC (Affinity Capture-MS), MTX3 (Affinity Capture-MS), PXMP2 (Affinity Capture-MS), LPCAT3 (Affinity Capture-MS), HMGCR (Affinity Capture-MS), SYVN1 (Affinity Capture-MS), DPY19L1 (Affinity Capture-MS), SLC30A6 (Affinity Capture-MS)
ESM2 similar proteins: A2WR31, A2X5B4, A2XGM7, A2YQB8, A2ZIM4, A8XI14, B8A833, B8AYH1, B8BKP4, F4IJ08, O45102, O82587, P0DI37, P0DKJ4, P0DKJ5, P93332, Q0D2K0, Q0DJY3, Q10LI8, Q10LN5, Q19VE6, Q2QR07, Q2QWX8, Q2R3P9, Q5JJY5, Q5N8J1, Q5NAZ9, Q60EC2, Q6K602, Q6L8F9, Q6NQN5, Q6YZF3, Q6Z1Y7, Q7RTP0, Q84WN3, Q8BZF2, Q8LBF7, Q8LFH5, Q8RZQ8, Q99PD7
Diamond homologs: B8K1V7, O22252, O54701, P23685, P32418, P48765, P48766, P48767, P48768, P57103, P70414, P70549, Q01728, Q2R041, Q6H641, Q8BUN9, Q8CGQ8, Q8K596, Q8NFF2, Q99PD7, Q9EPQ0, Q9HC58, Q9UI40, Q9UPR5, Q9VDG5, Q9VN12, S4R2P9, F1NXU8, O04034, O16242, P87122, Q49SH1, Q6AXS0, Q71RS6, Q925Q3, Q9FKP1, Q9FKP2, Q9U6A0, P34315, P34322
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SLC24A3 | “down-regulates quantity” | calcium(2+) | relocalization |
| SLC24A3 | “down-regulates quantity” | potassium(1+) | relocalization |
| SLC24A3 | “up-regulates quantity” | sodium(1+) | relocalization |
Disease & clinical
Clinical variants and AI predictions
ClinVar
98 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 83 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5086 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:19212980:GAAGG:G | donor_gain | 1.0000 |
| 20:19212983:GG:G | donor_gain | 1.0000 |
| 20:19212984:GG:G | donor_gain | 1.0000 |
| 20:19212985:G:GA | donor_loss | 1.0000 |
| 20:19212986:T:A | donor_loss | 1.0000 |
| 20:19280954:CCCA:C | acceptor_loss | 1.0000 |
| 20:19280956:CAGA:C | acceptor_loss | 1.0000 |
| 20:19280957:A:AG | acceptor_gain | 1.0000 |
| 20:19280958:G:GA | acceptor_gain | 1.0000 |
| 20:19280958:GA:G | acceptor_gain | 1.0000 |
| 20:19280958:GAGC:G | acceptor_gain | 1.0000 |
| 20:19280958:GAGCT:G | acceptor_gain | 1.0000 |
| 20:19281083:ACCAG:A | donor_loss | 1.0000 |
| 20:19281084:CCAG:C | donor_loss | 1.0000 |
| 20:19281085:CAG:C | donor_loss | 1.0000 |
| 20:19281086:AG:A | donor_loss | 1.0000 |
| 20:19281087:GG:G | donor_loss | 1.0000 |
| 20:19281088:GTAAC:G | donor_loss | 1.0000 |
| 20:19281089:T:A | donor_loss | 1.0000 |
| 20:19515486:A:AG | acceptor_gain | 1.0000 |
| 20:19515487:G:GG | acceptor_gain | 1.0000 |
| 20:19579994:TTCCA:T | acceptor_loss | 1.0000 |
| 20:19579995:TCCAG:T | acceptor_loss | 1.0000 |
| 20:19579996:CCA:C | acceptor_loss | 1.0000 |
| 20:19579997:CAG:C | acceptor_loss | 1.0000 |
| 20:19579998:A:AG | acceptor_gain | 1.0000 |
| 20:19579998:AG:A | acceptor_gain | 1.0000 |
| 20:19579998:AGGC:A | acceptor_loss | 1.0000 |
| 20:19579999:G:A | acceptor_loss | 1.0000 |
| 20:19579999:G:GA | acceptor_gain | 1.0000 |
AlphaMissense
4263 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:19515500:T:G | F95C | 1.000 |
| 20:19580022:T:C | L124P | 1.000 |
| 20:19580034:G:A | C128Y | 1.000 |
| 20:19580035:T:G | C128W | 1.000 |
| 20:19584996:C:A | A150D | 1.000 |
| 20:19584998:G:A | G151R | 1.000 |
| 20:19584998:G:C | G151R | 1.000 |
| 20:19584998:G:T | G151W | 1.000 |
| 20:19584999:G:A | G151E | 1.000 |
| 20:19585005:C:A | T153K | 1.000 |
| 20:19585012:G:A | M155I | 1.000 |
| 20:19585012:G:C | M155I | 1.000 |
| 20:19585012:G:T | M155I | 1.000 |
| 20:19585019:G:A | G158R | 1.000 |
| 20:19585019:G:C | G158R | 1.000 |
| 20:19585020:G:A | G158E | 1.000 |
| 20:19585022:A:C | S159R | 1.000 |
| 20:19585024:T:A | S159R | 1.000 |
| 20:19585024:T:G | S159R | 1.000 |
| 20:19585029:C:A | A161D | 1.000 |
| 20:19585032:C:A | P162Q | 1.000 |
| 20:19585038:T:C | L164P | 1.000 |
| 20:19585485:G:C | G185R | 1.000 |
| 20:19585486:G:A | G185D | 1.000 |
| 20:19585497:T:C | F189L | 1.000 |
| 20:19585499:C:A | F189L | 1.000 |
| 20:19585499:C:G | F189L | 1.000 |
| 20:19585502:C:A | N190K | 1.000 |
| 20:19585502:C:G | N190K | 1.000 |
| 20:19585519:G:A | G196D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005342 (20:19507318 G>C), RS1000007644 (20:19513753 C>G,T), RS1000017187 (20:19305864 C>T), RS1000023847 (20:19696596 T>C), RS1000026385 (20:19475863 T>G), RS1000028680 (20:19583449 G>A), RS1000029248 (20:19360333 C>G), RS1000033106 (20:19661661 A>G), RS1000034434 (20:19267673 C>A,G,T), RS1000037094 (20:19340218 C>T), RS1000037433 (20:19644026 A>G), RS1000037931 (20:19347699 T>C), RS1000048307 (20:19306108 C>A), RS1000049637 (20:19260435 C>G), RS1000061549 (20:19715190 G>A)
Disease associations
OMIM: gene MIM:609839 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
56 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000450_3 | Matrix metalloproteinase levels | 3.000000e-07 |
| GCST001113_9 | Age at smoking initiation in chronic obstructive pulmonary disease | 3.000000e-06 |
| GCST001444_18 | Pulmonary function decline | 3.000000e-06 |
| GCST002211_5 | Psychosis (atypical) | 1.000000e-06 |
| GCST003720_27 | Migraine | 2.000000e-19 |
| GCST003811_3 | Response to citalopram or escitalopram and depression | 7.000000e-07 |
| GCST003986_6 | Migraine | 2.000000e-15 |
| GCST004031_7 | QT interval (sulfonylurea treatment interaction) | 1.000000e-07 |
| GCST004141_1 | Body fat mass | 2.000000e-09 |
| GCST004278_10 | Pulse pressure | 2.000000e-13 |
| GCST004599_209 | Mean platelet volume | 4.000000e-11 |
| GCST006009_11 | Pulse pressure | 1.000000e-08 |
| GCST006035_18 | Breast cancer and/or colorectal cancer | 9.000000e-06 |
| GCST006431_13 | Plasma parathyroid hormone levels | 7.000000e-07 |
| GCST006631_27 | Nicotine dependence and major depression (severity of comorbidity) | 9.000000e-06 |
| GCST007096_246 | Pulse pressure | 3.000000e-15 |
| GCST007097_86 | Pulse pressure | 6.000000e-06 |
| GCST007268_68 | Diastolic blood pressure | 9.000000e-11 |
| GCST007269_140 | Pulse pressure | 9.000000e-24 |
| GCST007637_5 | Diffusing capacity of carbon monoxide | 9.000000e-06 |
| GCST007705_4 | Pulse pressure | 3.000000e-06 |
| GCST007705_6 | Pulse pressure | 1.000000e-06 |
| GCST007705_60 | Pulse pressure | 6.000000e-08 |
| GCST008141_7 | HDL cholesterol | 4.000000e-06 |
| GCST008512_39 | Multisite chronic pain | 4.000000e-10 |
| GCST009391_451 | Metabolite levels | 2.000000e-06 |
| GCST009963_20 | Cataracts (operation) | 7.000000e-40 |
| GCST010105_204 | Nicotine dependence symptom count | 3.000000e-06 |
| GCST010105_50 | Nicotine dependence symptom count | 3.000000e-06 |
| GCST012013_18 | Cataracts | 2.000000e-51 |
EFO canonical traits (15, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004744 | matrix metalloproteinase measurement |
| EFO:0005670 | smoking initiation |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0004682 | QT interval |
| EFO:0007922 | response to sulfonylurea |
| EFO:0005763 | pulse pressure measurement |
| EFO:0007006 | depressive symptom measurement |
| EFO:0009262 | nicotine dependence symptom count |
| EFO:0006336 | diastolic blood pressure |
| EFO:0009369 | diffusing capacity of the lung for carbon monoxide |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0010100 | multisite chronic pain |
| EFO:0010521 | phosphocreatine measurement |
| EFO:0004309 | platelet count |
| EFO:0008039 | BMI-adjusted hip circumference |
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 — SLC24 family of sodium/potassium/calcium exchangers
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects expression, affects methylation, decreases expression | 3 |
| Valproic Acid | increases expression, affects expression, affects cotreatment | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Estradiol | decreases expression, affects cotreatment | 2 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression, increases expression | 2 |
| fluorene-9-bisphenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation | 1 |
| sodium arsenite | affects methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| Decitabine | decreases expression, decreases reaction | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Allergens | increases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | decreases expression, affects cotreatment | 1 |
| Smoke | decreases expression, decreases reaction | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Triclosan | increases expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast carcinoma, cataract, major depressive disorder, migraine disorder, mood disorder, psychotic disorder