SLC13A2
gene geneOn this page
Also known as NaDC-1
Summary
SLC13A2 (solute carrier family 13 member 2, HGNC:10917) is a protein-coding gene on chromosome 17q11.2, encoding Solute carrier family 13 member 2 (Q13183). Low-affinity sodium-dicarboxylate cotransporter, that mediates the entry of citric acid cycle intermediates, such as succinate, citrate, fumarate and alpha-ketoglutarate (2-oxoglutarate) into the small intestine and renal proximal tubule.
The protein encoded by this gene is a sodium-coupled citrate transporter that is regulated by the chaperone activity of cyclophilin b. The encoded protein may play a role in the formation of kidney stones.
Source: NCBI Gene 9058 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 92 total
- Druggable target: yes
- MANE Select transcript:
NM_003984
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10917 |
| Approved symbol | SLC13A2 |
| Name | solute carrier family 13 member 2 |
| Location | 17q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NaDC-1 |
| Ensembl gene | ENSG00000007216 |
| Ensembl biotype | protein_coding |
| OMIM | 604148 |
| Entrez | 9058 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000314669, ENST00000444914, ENST00000459818, ENST00000541739, ENST00000577903, ENST00000579281, ENST00000855215, ENST00000855216, ENST00000855217, ENST00000855218, ENST00000855219, ENST00000956184
RefSeq mRNA: 4 — MANE Select: NM_003984
NM_001145975, NM_001346683, NM_001346684, NM_003984
CCDS: CCDS11231, CCDS54098, CCDS92282
Canonical transcript exons
ENST00000314669 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000000258 | 28473644 | 28473814 |
| ENSE00001945006 | 28497099 | 28497781 |
| ENSE00003472809 | 28490454 | 28490590 |
| ENSE00003512120 | 28490701 | 28490906 |
| ENSE00003517668 | 28494391 | 28494512 |
| ENSE00003541012 | 28496450 | 28496587 |
| ENSE00003573228 | 28495655 | 28495816 |
| ENSE00003593222 | 28491437 | 28491617 |
| ENSE00003598661 | 28493571 | 28493789 |
| ENSE00003603081 | 28494017 | 28494105 |
| ENSE00003623178 | 28489214 | 28489342 |
| ENSE00003653359 | 28491730 | 28491852 |
Expression profiles
Bgee: expression breadth broad, 94 present calls, max score 97.39.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.8771 / max 1358.1857, expressed in 60 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 160030 | 1.7904 | 57 |
| 160031 | 0.0372 | 14 |
| 160029 | 0.0245 | 12 |
| 160028 | 0.0172 | 5 |
| 160033 | 0.0077 | 2 |
Top tissues by expression
266 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 97.39 | gold quality |
| duodenum | UBERON:0002114 | 95.11 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 87.08 | gold quality |
| small intestine | UBERON:0002108 | 86.55 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.13 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 84.42 | gold quality |
| buccal mucosa cell | CL:0002336 | 82.32 | silver quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 82.21 | gold quality |
| adult organism | UBERON:0007023 | 82.14 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 81.45 | gold quality |
| minor salivary gland | UBERON:0001830 | 80.96 | gold quality |
| mammary duct | UBERON:0001765 | 80.82 | gold quality |
| ileal mucosa | UBERON:0000331 | 79.09 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 78.75 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 78.52 | gold quality |
| parotid gland | UBERON:0001831 | 78.14 | gold quality |
| colonic mucosa | UBERON:0000317 | 77.96 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 77.88 | gold quality |
| gall bladder | UBERON:0002110 | 77.61 | gold quality |
| kidney | UBERON:0002113 | 76.61 | gold quality |
| rectum | UBERON:0001052 | 76.49 | gold quality |
| mouth mucosa | UBERON:0003729 | 76.26 | gold quality |
| jejunum | UBERON:0002115 | 76.15 | gold quality |
| triceps brachii | UBERON:0001509 | 75.85 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 74.97 | gold quality |
| trachea | UBERON:0003126 | 74.63 | gold quality |
| seminal vesicle | UBERON:0000998 | 74.32 | gold quality |
| gluteal muscle | UBERON:0002000 | 73.16 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 71.86 | silver quality |
| mammary gland | UBERON:0001911 | 71.39 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.49 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF, FOXA1, TFAP2A
miRNA regulators (miRDB)
17 targeting SLC13A2, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-548U | 99.65 | 67.78 | 1463 |
| HSA-MIR-4293 | 99.22 | 65.46 | 1263 |
| HSA-MIR-8066 | 99.05 | 68.66 | 1532 |
| HSA-MIR-3164 | 99.02 | 68.39 | 1071 |
| HSA-MIR-6820-3P | 99.02 | 68.50 | 1035 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-432-5P | 98.00 | 68.13 | 989 |
| HSA-MIR-6856-3P | 96.47 | 66.27 | 781 |
| HSA-MIR-6874-5P | 95.73 | 64.94 | 545 |
Literature-anchored findings (GeneRIF, showing 13)
- This paper describes the cloning and functional characterization of the human Na(+)-coupled citrate transporter (NaCT). (PMID:12445824)
- Data show that the sodium-dependent dicarboxylate co-transporter protein 1 is located in renal proximal tubule lumenal membranes, and that the C-terminal sequence is required for delivery and targeting and may contain the signal sequence. (PMID:15620109)
- there are conformationally sensitive residues in extracellular loop 5 of the Na+/dicarboxylate co-transporter (PMID:15774465)
- B allele of I550V polymorphism of hNaDC-1 may be associated with a reduction in urinary citrate excretion and contribute to hypocitraturia in recurrent renal stone formers. (PMID:17470169)
- The Ser or Thr at position 509 is the most important determinant of functional differences in apparent affinity for substrate and cations. The cation and substrate binding sites are located in close proximity to one another. (PMID:18161988)
- study concludes most of the naturally occurring nonsynonymous SNPs affect protein processing of NaDC1; several also affect functional properties; mutations are predicted to decrease transport activity (PMID:20610529)
- cyclophilin isoform B is likely responsible for down-regulation of carrier expression by CsA and that it does so via its chaperone activity on NaDC1 (by direct interaction) rather than its rotamase activity. (PMID:21257749)
- Results point to an epistatic interaction between the VDR and the SLC13A2 alleles in the pathogenesis of idiopathic hypocitraturia in calcium-oxalate stone formers. (PMID:27639591)
- NaDC1 is present throughout the entire proximal tubule, but was not detected in kidney tumors. (PMID:27927654)
- Mapping Functionally Important Residues in the Na(+)/Dicarboxylate Cotransporter, NaDC1. (PMID:28731330)
- Homozygous GG of rs11567842 SNP in NaDC-1 gene was a protective genotype for hypocitraturia in kidney stone patients (PMID:30155711)
- SLC26A6 and NADC1: Future direction of nephrolithiasis and calculusrelated hypertension research (Review). (PMID:34458928)
- Cryo-EM structures of the human NaS1 and NaDC1 transporters revealed the elevator transport and allosteric regulation mechanism. (PMID:38552027)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc13a2 | ENSDARG00000053853 |
| mus_musculus | Slc13a2 | ENSMUSG00000001095 |
| rattus_norvegicus | Slc13a2 | ENSRNOG00000010337 |
| drosophila_melanogaster | CG7309 | FBGN0032314 |
| drosophila_melanogaster | Indy | FBGN0036816 |
| drosophila_melanogaster | CG33934 | FBGN0064119 |
| drosophila_melanogaster | Indy-2 | FBGN0260466 |
| caenorhabditis_elegans | WBGENE00003517 | |
| caenorhabditis_elegans | WBGENE00003518 | |
| caenorhabditis_elegans | WBGENE00003519 | |
| caenorhabditis_elegans | WBGENE00007138 |
Paralogs (5): SLC13A1 (ENSG00000081800), OCA2 (ENSG00000104044), SLC13A5 (ENSG00000141485), SLC13A3 (ENSG00000158296), SLC13A4 (ENSG00000164707)
Protein
Protein identifiers
Solute carrier family 13 member 2 — Q13183 (reviewed: Q13183)
Alternative names: Na(+)/dicarboxylate cotransporter 1, Renal sodium/dicarboxylate cotransporter
All UniProt accessions (3): Q13183, J3QL78, J3QR70
UniProt curated annotations — full annotation on UniProt →
Function. Low-affinity sodium-dicarboxylate cotransporter, that mediates the entry of citric acid cycle intermediates, such as succinate, citrate, fumarate and alpha-ketoglutarate (2-oxoglutarate) into the small intestine and renal proximal tubule. Transports the dicarboxylate into the cell with a probable stoichiometry of 3 Na(+) for 1 divalent dicarboxylate, rendering the process electrogenic. Citrate is transported in protonated form as a divalent anion, rather than the trivalent form which is normally found in blood. Has a critical role in renal dicarboxylate transport.
Subcellular location. Apical cell membrane.
Tissue specificity. Expressed in kidney and intestine. In kidney expressed in the proximal tubule (at protein level).
Activity regulation. Li(+) decreases succinate transport in the presence of Na(+), by competing at one of the three cation binding sites.
Similarity. Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13183-1 | 1 | yes |
| Q13183-2 | 2 | |
| Q13183-3 | 3 |
RefSeq proteins (4): NP_001139447, NP_001333612, NP_001333613, NP_003975* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001898 | SLC13A/DASS | Family |
| IPR031312 | Na/sul_symport_CS | Conserved_site |
Pfam: PF00939
Catalyzed reactions (Rhea), 3 shown:
- succinate(out) + 3 Na(+)(out) = succinate(in) + 3 Na(+)(in) (RHEA:71919)
- fumarate(out) + 3 Na(+)(out) = fumarate(in) + 3 Na(+)(in) (RHEA:71931)
- 2-oxoglutarate(out) + 3 Na(+)(out) = 2-oxoglutarate(in) + 3 Na(+)(in) (RHEA:71939)
UniProt features (25 total): transmembrane region 12, sequence variant 7, splice variant 2, chain 1, region of interest 1, compositionally biased region 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8W6D | ELECTRON MICROSCOPY | 2.5 |
| 8W6C | ELECTRON MICROSCOPY | 2.7 |
| 8W6G | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13183-F1 | 83.42 | 0.53 |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-9955298 | SLC-mediated transport of organic anions |
| R-HSA-433137 | Sodium-coupled sulphate, di- and tri-carboxylate transporters |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425366 | |
| R-HSA-425407 | SLC-mediated transmembrane transport |
MSigDB gene sets: 111 (showing top):
GSE45365_NK_CELL_VS_BCELL_DN, MORF_RAGE, MORF_FLT1, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, MODULE_45, MODULE_64, HNF1_Q6, MORF_ESR1, chr17q11, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_RESPONSE_TO_METAL_ION, GOBP_ORGANIC_ANION_TRANSPORT, MODULE_71, GOBP_DICARBOXYLIC_ACID_TRANSPORT
GO Biological Process (8): fumarate transport (GO:0015741), alpha-ketoglutarate transport (GO:0015742), cellular response to lithium ion (GO:0071285), succinate transmembrane transport (GO:0071422), monoatomic ion transport (GO:0006811), sodium ion transport (GO:0006814), sodium ion transmembrane transport (GO:0035725), transmembrane transport (GO:0055085)
GO Molecular Function (9): fumarate transmembrane transporter activity (GO:0015138), alpha-ketoglutarate transmembrane transporter activity (GO:0015139), succinate transmembrane transporter activity (GO:0015141), low-affinity sodium:dicarboxylate symporter activity (GO:0015361), sodium:dicarboxylate symporter activity (GO:0017153), protein binding (GO:0005515), symporter activity (GO:0015293), solute:sodium symporter activity (GO:0015370), transmembrane transporter activity (GO:0022857)
GO Cellular Component (4): plasma membrane (GO:0005886), membrane (GO:0016020), apical plasma membrane (GO:0016324), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| SLC-mediated transmembrane transport | 1 |
| 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 | 2 |
| C4-dicarboxylate transmembrane transporter activity | 2 |
| dicarboxylic acid transmembrane transporter activity | 2 |
| C4-dicarboxylate transport | 1 |
| dicarboxylic acid transport | 1 |
| response to lithium ion | 1 |
| cellular response to metal ion | 1 |
| succinate transport | 1 |
| carboxylic acid transmembrane transport | 1 |
| metal ion transport | 1 |
| sodium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| cellular process | 1 |
| fumarate transport | 1 |
| alpha-ketoglutarate transport | 1 |
| succinate transmembrane transport | 1 |
| sodium:dicarboxylate symporter activity | 1 |
| organic acid:sodium symporter activity | 1 |
| binding | 1 |
| secondary active transmembrane transporter activity | 1 |
| sodium ion transmembrane transporter activity | 1 |
| solute:monoatomic cation symporter activity | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1060 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC13A2 | SLC26A2 | P50443 | 855 |
| SLC13A2 | SLC26A6 | Q9BXS9 | 775 |
| SLC13A2 | SLC15A5 | A6NIM6 | 730 |
| SLC13A2 | SLC26A3 | P40879 | 716 |
| SLC13A2 | SLC5A1 | P13866 | 541 |
| SLC13A2 | SLC36A2 | Q495M3 | 492 |
| SLC13A2 | SLC5A8 | Q8N695 | 481 |
| SLC13A2 | SLC26A4 | O43511 | 466 |
| SLC13A2 | SLC25A1 | P53007 | 459 |
| SLC13A2 | SLC46A2 | Q9BY10 | 435 |
| SLC13A2 | SLC13A3 | Q8WWT9 | 431 |
| SLC13A2 | SLC5A5 | Q92911 | 422 |
| SLC13A2 | SLC44A3 | Q8N4M1 | 412 |
| SLC13A2 | SLC9A3 | P48764 | 407 |
| SLC13A2 | SLC3A1 | Q07837 | 406 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GJA8 | SLC13A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC13A2 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC13A2 | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC13A2 | SEC24D | psi-mi:“MI:0914”(association) | 0.350 |
| SLC13A2 | PGK2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC13A2 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
| TRIM54 | SLC13A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC13A2 | GJA8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC13A2 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (42): SLC13A2 (Biochemical Activity), UBA52 (Affinity Capture-MS), UBB (Affinity Capture-MS), SEC24D (Affinity Capture-MS), PCNXL3 (Affinity Capture-MS), SARAF (Affinity Capture-MS), TCEB3 (Affinity Capture-MS), TWISTNB (Affinity Capture-MS), SCAF4 (Affinity Capture-MS), AMFR (Affinity Capture-MS), ATG9A (Affinity Capture-MS), GJA8 (Two-hybrid), CREB3L1 (Two-hybrid), SLC13A2 (Two-hybrid), GAN (Affinity Capture-MS)
ESM2 similar proteins: A0FKN5, A4IIF2, A7MBD8, D7PC76, O04722, O13134, O70531, P30823, P30825, P31596, P40879, P43004, P43005, P43006, P50443, P51906, P55017, P55018, P58743, P59158, P70545, Q07782, Q09143, Q10901, Q13183, Q1EHB4, Q25605, Q3ZMH1, Q58DD2, Q5RAL2, Q62273, Q67BT3, Q69DJ1, Q7LBE3, Q7T2C4, Q8BU91, Q8CIW6, Q8CJ44, Q8R2Z3, Q8TE54
Diamond homologs: P0AFU2, P0AFU3, P32739, P46556, P70545, Q13183, Q21339, Q28615, Q49YW0, Q67BT3, Q86YT5, Q8CJ44, Q8WWT9, Q91Y63, Q93655, Q9ES88, Q9VDQ0, Q9VVT2, Q9Z0Z5, P39535, Q07782, Q9BZW2, Q9JHI4, O59712, P25360, P72958, Q2FFH9, Q2FWY4, Q2YU56, Q5HEK4, Q6G816, Q6GFE0, Q7A4P8, Q8LG88, Q8NVS5, Q99SX1, Q9UKG4, P0A607, P39760, P9WPD8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
92 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 83 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1919 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:28473810:GTAAG:G | donor_gain | 1.0000 |
| 17:28473813:AGGT:A | donor_loss | 1.0000 |
| 17:28473814:GGTA:G | donor_loss | 1.0000 |
| 17:28473815:GTAAG:G | donor_loss | 1.0000 |
| 17:28489210:GCAG:G | acceptor_loss | 1.0000 |
| 17:28489211:CAG:C | acceptor_loss | 1.0000 |
| 17:28489211:CAGG:C | acceptor_gain | 1.0000 |
| 17:28489212:AGGA:A | acceptor_gain | 1.0000 |
| 17:28489213:GGAG:G | acceptor_gain | 1.0000 |
| 17:28489343:G:GA | donor_loss | 1.0000 |
| 17:28490873:G:GT | donor_gain | 1.0000 |
| 17:28490891:G:GT | donor_gain | 1.0000 |
| 17:28490902:GCTTG:G | donor_gain | 1.0000 |
| 17:28490903:C:G | donor_gain | 1.0000 |
| 17:28490904:TTGGT:T | donor_loss | 1.0000 |
| 17:28490908:T:A | donor_loss | 1.0000 |
| 17:28491614:ACTC:A | donor_gain | 1.0000 |
| 17:28491615:CTC:C | donor_gain | 1.0000 |
| 17:28491616:TC:T | donor_gain | 1.0000 |
| 17:28491618:G:GG | donor_gain | 1.0000 |
| 17:28491724:CTTCA:C | acceptor_loss | 1.0000 |
| 17:28491725:TTCAG:T | acceptor_loss | 1.0000 |
| 17:28491726:TCAG:T | acceptor_loss | 1.0000 |
| 17:28491727:CAGGC:C | acceptor_loss | 1.0000 |
| 17:28491728:A:AG | acceptor_gain | 1.0000 |
| 17:28491728:A:C | acceptor_loss | 1.0000 |
| 17:28491728:AG:A | acceptor_gain | 1.0000 |
| 17:28491729:G:GC | acceptor_gain | 1.0000 |
| 17:28491729:GG:G | acceptor_gain | 1.0000 |
| 17:28491729:GGC:G | acceptor_gain | 1.0000 |
AlphaMissense
3866 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:28490744:T:A | W138R | 0.998 |
| 17:28490744:T:C | W138R | 0.998 |
| 17:28491591:C:A | N243K | 0.997 |
| 17:28491591:C:G | N243K | 0.997 |
| 17:28491770:T:A | W266R | 0.997 |
| 17:28491770:T:C | W266R | 0.997 |
| 17:28493719:T:A | W343R | 0.997 |
| 17:28493719:T:C | W343R | 0.997 |
| 17:28494459:T:A | W419R | 0.997 |
| 17:28494459:T:C | W419R | 0.997 |
| 17:28491550:A:C | S230R | 0.996 |
| 17:28491552:C:A | S230R | 0.996 |
| 17:28491552:C:G | S230R | 0.996 |
| 17:28491556:G:T | G232W | 0.996 |
| 17:28491557:G:A | G232E | 0.996 |
| 17:28491577:G:C | G239R | 0.996 |
| 17:28491578:G:A | G239D | 0.996 |
| 17:28497203:G:C | W571C | 0.996 |
| 17:28497203:G:T | W571C | 0.996 |
| 17:28490750:A:C | S140R | 0.995 |
| 17:28490752:C:A | S140R | 0.995 |
| 17:28490752:C:G | S140R | 0.995 |
| 17:28490755:C:A | N141K | 0.995 |
| 17:28490755:C:G | N141K | 0.995 |
| 17:28491566:C:A | A235D | 0.995 |
| 17:28491578:G:T | G239V | 0.995 |
| 17:28493729:G:C | R346P | 0.995 |
| 17:28493752:T:A | W354R | 0.995 |
| 17:28493752:T:C | W354R | 0.995 |
| 17:28495769:A:C | S475R | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000147642 (17:28483054 C>A,T), RS1000381337 (17:28494864 C>T), RS1000405952 (17:28494655 T>C), RS1000979709 (17:28477354 C>G,T), RS1001173748 (17:28489800 C>T), RS1001190507 (17:28483153 G>T), RS1001243384 (17:28477074 C>G,T), RS1001707937 (17:28489562 A>G), RS1002043454 (17:28488170 A>G), RS1002074271 (17:28494321 A>G), RS1002135581 (17:28495428 C>T), RS1002710816 (17:28490736 T>A,C), RS1002738408 (17:28496953 G>A,T), RS1002989170 (17:28474751 G>A,C), RS1003188039 (17:28473010 T>C)
Disease associations
OMIM: gene MIM:604148 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3712851 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC13 family of sodium-dependent sulphate/carboxylate transporters
ChEMBL bioactivities
1 potent at pChembl≥5 of 2 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.00 | IC50 | 1e+04 | nM | CHEMBL3771118 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| (2R)-2-hydroxy-2-[2-(2-methoxy-5-methyl-3-pyridinyl)ethyl]butanedioic acid | 1280698: Inhibition of NaDC1 (unknown origin) expressed in HEK293 cells assessed as inhibition of [14C]citrate uptake by microbeta plate reader analysis | ic50 | 10.0000 | uM |
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| diethylene glycol | decreases response to substance, decreases activity | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| 4-amylcinnamoylanthranilic acid | decreases activity, decreases response to substance | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| diglycolic acid | affects response to substance, increases uptake | 1 |
| Arbutin | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Estradiol | affects expression | 1 |
| Lithium | increases reaction, increases uptake | 1 |
| Methapyrilene | increases methylation | 1 |
| Nickel | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Vanadium | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Citric Acid | increases reaction, increases uptake | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3773093 | Binding | Inhibition of NaDC1 (unknown origin) expressed in HEK293 cells assessed as inhibition of [14C]citrate uptake by microbeta plate reader analysis | Optimization of a Dicarboxylic Series for in Vivo Inhibition of Citrate Transport by the Solute Carrier 13 (SLC13) Family. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.