SLC14A2
geneOn this page
Also known as HUT2UT2
Summary
SLC14A2 (solute carrier family 14 member 2, HGNC:10919) is a protein-coding gene on chromosome 18q12.3, encoding Urea transporter 2 (Q15849). Mediates the transport of urea driven by a concentration gradient across the cell membrane of the renal inner medullary collecting duct which is critical to the urinary concentrating mechanism.
The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 8170 — RefSeq curated summary.
At a glance
- GWAS associations: 42
- Clinical variants (ClinVar): 163 total
- MANE Select transcript:
NM_007163
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10919 |
| Approved symbol | SLC14A2 |
| Name | solute carrier family 14 member 2 |
| Location | 18q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HUT2, UT2 |
| Ensembl gene | ENSG00000132874 |
| Ensembl biotype | protein_coding |
| OMIM | 601611 |
| Entrez | 8170 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay
ENST00000255226, ENST00000323329, ENST00000586448
RefSeq mRNA: 3 — MANE Select: NM_007163
NM_001242692, NM_001371319, NM_007163
CCDS: CCDS11924
Canonical transcript exons
ENST00000255226 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000905781 | 45667833 | 45668022 |
| ENSE00000905782 | 45668349 | 45668477 |
| ENSE00000905783 | 45669306 | 45669498 |
| ENSE00000905785 | 45673683 | 45673817 |
| ENSE00000905786 | 45678975 | 45679024 |
| ENSE00001004045 | 45636990 | 45637182 |
| ENSE00001004046 | 45663785 | 45663907 |
| ENSE00001004049 | 45666137 | 45666219 |
| ENSE00001264788 | 45643986 | 45644160 |
| ENSE00001264832 | 45632350 | 45632478 |
| ENSE00001264838 | 45626958 | 45627147 |
| ENSE00001264846 | 45625683 | 45625863 |
| ENSE00001264869 | 45682319 | 45683688 |
| ENSE00001375024 | 45624631 | 45624814 |
| ENSE00001736834 | 45672900 | 45673047 |
| ENSE00001863763 | 45615476 | 45615582 |
| ENSE00003501150 | 45639746 | 45639893 |
| ENSE00003545692 | 45643132 | 45643181 |
| ENSE00003632842 | 45641209 | 45641343 |
| ENSE00003737025 | 45666935 | 45667094 |
Expression profiles
Bgee: expression breadth broad, 100 present calls, max score 79.88.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0230 / max 20.9584, expressed in 5 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 170114 | 0.0230 | 5 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.88 | gold quality |
| hair follicle | UBERON:0002073 | 69.24 | gold quality |
| right adrenal gland | UBERON:0001233 | 65.95 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 65.66 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 64.96 | gold quality |
| left adrenal gland | UBERON:0001234 | 64.20 | gold quality |
| endometrium epithelium | UBERON:0004811 | 63.31 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 61.99 | gold quality |
| metanephros cortex | UBERON:0010533 | 61.20 | gold quality |
| adrenal cortex | UBERON:0001235 | 61.18 | gold quality |
| adrenal gland | UBERON:0002369 | 60.97 | gold quality |
| calcaneal tendon | UBERON:0003701 | 60.74 | gold quality |
| ventricular zone | UBERON:0003053 | 58.06 | gold quality |
| decidua | UBERON:0002450 | 56.55 | gold quality |
| tibial artery | UBERON:0007610 | 56.08 | gold quality |
| popliteal artery | UBERON:0002250 | 56.07 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 55.80 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 55.30 | gold quality |
| lower lobe of lung | UBERON:0008949 | 55.01 | silver quality |
| quadriceps femoris | UBERON:0001377 | 54.74 | gold quality |
| metanephros | UBERON:0000081 | 54.54 | gold quality |
| kidney | UBERON:0002113 | 54.48 | gold quality |
| cerebellar vermis | UBERON:0004720 | 54.38 | gold quality |
| vermiform appendix | UBERON:0001154 | 54.16 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 54.15 | gold quality |
| kidney epithelium | UBERON:0004819 | 54.15 | gold quality |
| vastus lateralis | UBERON:0001379 | 54.12 | gold quality |
| ganglionic eminence | UBERON:0004023 | 54.12 | gold quality |
| omental fat pad | UBERON:0010414 | 53.36 | gold quality |
| peritoneum | UBERON:0002358 | 53.32 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.18 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1, KLF12, NFAT5, NR3C1, TCF3
miRNA regulators (miRDB)
21 targeting SLC14A2, 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-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-6505-3P | 99.34 | 67.39 | 1071 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-4293 | 99.22 | 65.46 | 1263 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-3161 | 98.71 | 67.14 | 816 |
| HSA-MIR-3188 | 98.58 | 65.60 | 878 |
| HSA-MIR-12127 | 97.93 | 66.67 | 793 |
Literature-anchored findings (GeneRIF, showing 10)
- a novel UT-A urea transporter; the transcript contains a novel 129-bp exon, exon 5a, which, as a result of alternative splicing, introduces a unique 19-aa segment and a stop codon. (PMID:15189812)
- results provide new evidences that suggest the involvement of AQP9 and UT-A in the urea excretion mechanism across human term placenta from mother to fetus in physiological conditions (PMID:16480766)
- This review summarizes the published work that has accrued on the structure and regulation of these genes. (PMID:17264986)
- polymorphisms in the SLC14A2 gene can predict the antihypertensive efficacy of nifedipine GITS (gastrointestinal therapeutic system) (PMID:17344938)
- HUT2 gene may play a certain role in developing metabolic syndrome and its related traits in Asian population. (PMID:20797394)
- Studies indicate that the urea transporter SLC14a2, the UT-A group, was originally isolated from kidney inner medulla. (PMID:25298338)
- Studies indicate that osmotic diuresis, where urea concentrations are low, can prompt an increase in urea transporter abundance. (PMID:25298340)
- Studies indicate that the cell signaling pathway for vasopressin-mediated urea transporters phosphorylation and activity involves two cAMP-dependent signaling pathways. (PMID:25298341)
- UT2 is a negative regulator shared across STAT3 and mTORC2 signaling cascades, functioning as a tumor suppressor in hematologic malignancies driven by those pathways. (PMID:26927669)
- The urea transporter subtypes, UT-A1 and UT-B1, were expressed in the skin basal cell layer and exocrine sweat glands. The abundance of UT-A1 and UT-B1 in uremic sweat glands was significantly increased in UP, while the expression of AQP5 was decreased. (PMID:29279852)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc14a2 | ENSDARG00000051914 |
| mus_musculus | Slc14a2 | ENSMUSG00000024552 |
| rattus_norvegicus | Slc14a2 | ENSRNOG00000061714 |
Paralogs (1): SLC14A1 (ENSG00000141469)
Protein
Protein identifiers
Urea transporter 2 — Q15849 (reviewed: Q15849)
Alternative names: Solute carrier family 14 member 2, Urea transporter, kidney
All UniProt accessions (2): E7EPU1, Q15849
UniProt curated annotations — full annotation on UniProt →
Function. Mediates the transport of urea driven by a concentration gradient across the cell membrane of the renal inner medullary collecting duct which is critical to the urinary concentrating mechanism. Mediates the transport of urea driven by a concentration gradient across the cell membrane of the kidney inner medullary collecting duct which is critical to the urinary concentrating mechanism.
Subunit / interactions. Interacts with SNAPIN which enhances its urea transport activity.
Subcellular location. Apical cell membrane. Cell membrane.
Tissue specificity. Epressed in the inner medulla of the kidney (at protein level). Expressed in the kidney.
Activity regulation. Inhibited by phloretin.
Similarity. Belongs to the urea transporter family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15849-1 | 1, UT-A1 | yes |
| Q15849-2 | 2, UT-A2 |
RefSeq proteins (3): NP_001229621, NP_001358248, NP_009094* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004937 | Urea_transporter | Family |
| IPR029020 | Ammonium/urea_transptr | Homologous_superfamily |
Pfam: PF03253
Catalyzed reactions (Rhea), 1 shown:
- urea(in) = urea(out) (RHEA:32799)
UniProt features (93 total): helix 44, transmembrane region 17, turn 10, sequence variant 6, sequence conflict 4, strand 4, region of interest 2, compositionally biased region 2, chain 1, modified residue 1, glycosylation site 1, splice variant 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8XDE | ELECTRON MICROSCOPY | 2.3 |
| 8XD7 | ELECTRON MICROSCOPY | 2.6 |
| 8XD9 | ELECTRON MICROSCOPY | 2.8 |
| 8BLO | ELECTRON MICROSCOPY | 2.9 |
| 8XDA | ELECTRON MICROSCOPY | 3 |
| 8XDC | ELECTRON MICROSCOPY | 3 |
| 8XDD | ELECTRON MICROSCOPY | 3 |
| 9LHT | ELECTRON MICROSCOPY | 3 |
| 8XDB | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15849-F1 | 81.96 | 0.71 |
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): 477
Glycosylation sites (1): 733
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-549127 | SLC-mediated transport of organic cations |
| R-HSA-425366 |
MSigDB gene sets: 75 (showing top):
GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, MORF_RAD51L3, chr18q12, MORF_CTSB, GOBP_ONE_CARBON_COMPOUND_TRANSPORT, MORF_IL4, BROWNE_HCMV_INFECTION_14HR_DN, MARTIN_NFKB_TARGETS_DN, GOCC_APICAL_PLASMA_MEMBRANE, MORF_ATF2, MODULE_20, GOBP_TRANSMEMBRANE_TRANSPORT, SHEN_SMARCA2_TARGETS_DN, GOCC_APICAL_PART_OF_CELL, GOCC_PLASMA_MEMBRANE_REGION
GO Biological Process (3): urea transport (GO:0015840), transmembrane transport (GO:0055085), urea transmembrane transport (GO:0071918)
GO Molecular Function (3): urea transmembrane transporter activity (GO:0015204), cell adhesion molecule binding (GO:0050839), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), membrane (GO:0016020), apical plasma membrane (GO:0016324)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| SLC-mediated transmembrane transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| one-carbon compound transport | 1 |
| nitrogen compound transport | 1 |
| transport | 1 |
| cellular process | 1 |
| urea transport | 1 |
| transmembrane transport | 1 |
| transmembrane transporter activity | 1 |
| urea transmembrane transport | 1 |
| protein binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
Protein interactions and networks
STRING
918 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC14A2 | AQP1 | P29972 | 641 |
| SLC14A2 | KLK1 | P06870 | 639 |
| SLC14A2 | DBH | P09172 | 631 |
| SLC14A2 | CLCNKA | P51800 | 607 |
| SLC14A2 | KLK4 | Q9Y5K2 | 581 |
| SLC14A2 | AQP2 | P41181 | 572 |
| SLC14A2 | KNG1 | P01042 | 547 |
| SLC14A2 | TTR | P02766 | 493 |
| SLC14A2 | ACSM3 | Q53FZ2 | 480 |
| SLC14A2 | CCDC172 | P0C7W6 | 473 |
| SLC14A2 | AVPR2 | P30518 | 451 |
| SLC14A2 | SLC12A1 | Q13621 | 450 |
| SLC14A2 | SPAG8 | Q99932 | 449 |
| SLC14A2 | Q3MI93 | Q3MI93 | 447 |
| SLC14A2 | ACE | P12821 | 430 |
IntAct
42 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC14A2 | TMEM97 | psi-mi:“MI:0915”(physical association) | 0.600 |
| LAT | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VAMP5 | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC14A2 | LRP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EHHADH | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNF | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLN | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC14A2 | ARLN | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC14A2 | CMTM7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC14A2 | SEC22A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TUSC5 | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC14A2 | PKP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLC14A2 | MLF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLC14A2 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| LAT | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLP2 | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ARLN | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CMTM7 | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC14A2 | LAT | psi-mi:“MI:0915”(physical association) | 0.000 |
| VAMP5 | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| LRP10 | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| EHHADH | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TNF | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLN | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SEC22A | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (143): PKP2 (Affinity Capture-MS), SLC14A2 (Two-hybrid), SLC14A2 (Two-hybrid), SLC14A2 (Two-hybrid), SLC14A2 (Two-hybrid), CMTM7 (Two-hybrid), C4orf3 (Two-hybrid), VAMP5 (Two-hybrid), TUSC5 (Two-hybrid), LRP10 (Two-hybrid), PLN (Two-hybrid), LAT (Two-hybrid), TNF (Two-hybrid), MDM2 (Affinity Capture-Western), SLC14A2 (Co-fractionation)
ESM2 similar proteins: A0A0R4IQZ2, A1KSH5, A6V3A0, A9M2A8, A9RA88, B7UZU0, C4LD54, C5MK33, D3INW7, E9PXX9, O00337, O43868, O62667, O88575, O88627, O97681, P15920, P20715, P97689, Q02PG0, Q13336, Q15849, Q28614, Q28GF5, Q4V7N7, Q5F410, Q5F6X7, Q5QF96, Q5R687, Q5U4Q2, Q62668, Q62674, Q62773, Q6C741, Q6PQZ3, Q6UPR8, Q72CX3, Q7EYH7, Q7Z2K6, Q8R4T9
Diamond homologs: C5MK33, D3INW7, P97689, Q13336, Q15849, Q28614, Q5QF96, Q62668, Q72CX3, Q8R4T9, Q8VHL0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
163 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 142 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4800 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:45213188:GACC:G | donor_gain | 1.0000 |
| 18:45213192:G:GG | donor_gain | 1.0000 |
| 18:45624624:C:CA | acceptor_gain | 1.0000 |
| 18:45624627:CTA:C | acceptor_loss | 1.0000 |
| 18:45624628:TAGTC:T | acceptor_loss | 1.0000 |
| 18:45624629:A:AG | acceptor_gain | 1.0000 |
| 18:45624629:A:C | acceptor_loss | 1.0000 |
| 18:45624630:G:GT | acceptor_gain | 1.0000 |
| 18:45624630:GT:G | acceptor_gain | 1.0000 |
| 18:45624630:GTC:G | acceptor_gain | 1.0000 |
| 18:45624630:GTCC:G | acceptor_gain | 1.0000 |
| 18:45624630:GTCCA:G | acceptor_gain | 1.0000 |
| 18:45624812:AAGG:A | donor_loss | 1.0000 |
| 18:45624815:GTG:G | donor_loss | 1.0000 |
| 18:45625678:AAAAG:A | acceptor_gain | 1.0000 |
| 18:45625862:AGGT:A | donor_loss | 1.0000 |
| 18:45625864:GTAGG:G | donor_loss | 1.0000 |
| 18:45625865:T:G | donor_loss | 1.0000 |
| 18:45626956:A:AG | acceptor_gain | 1.0000 |
| 18:45626957:G:GG | acceptor_gain | 1.0000 |
| 18:45636989:GCCCA:G | acceptor_gain | 1.0000 |
| 18:45643179:GTG:G | donor_gain | 1.0000 |
| 18:45644158:GCG:G | donor_gain | 1.0000 |
| 18:45644180:G:GT | donor_gain | 1.0000 |
| 18:45644180:G:T | donor_gain | 1.0000 |
| 18:45666129:A:AG | acceptor_gain | 1.0000 |
| 18:45666130:A:G | acceptor_gain | 1.0000 |
| 18:45666135:A:AG | acceptor_gain | 1.0000 |
| 18:45666136:G:GA | acceptor_gain | 1.0000 |
| 18:45666136:GT:G | acceptor_gain | 1.0000 |
AlphaMissense
5985 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:45667910:A:C | S599R | 0.990 |
| 18:45667912:C:A | S599R | 0.990 |
| 18:45667912:C:G | S599R | 0.990 |
| 18:45627035:A:C | S137R | 0.988 |
| 18:45627037:C:A | S137R | 0.988 |
| 18:45627037:C:G | S137R | 0.988 |
| 18:45644110:G:C | R434P | 0.988 |
| 18:45639870:G:A | G323D | 0.979 |
| 18:45641298:T:C | F361L | 0.979 |
| 18:45641300:C:A | F361L | 0.979 |
| 18:45641300:C:G | F361L | 0.979 |
| 18:45667872:G:C | R586P | 0.979 |
| 18:45673005:T:C | C779R | 0.979 |
| 18:45673739:A:C | S812R | 0.979 |
| 18:45673741:C:A | S812R | 0.979 |
| 18:45673741:C:G | S812R | 0.979 |
| 18:45639851:T:C | C317R | 0.978 |
| 18:45639869:G:C | G323R | 0.978 |
| 18:45644103:G:C | A432P | 0.976 |
| 18:45667874:G:C | G587R | 0.973 |
| 18:45673023:G:A | G785R | 0.973 |
| 18:45673023:G:C | G785R | 0.973 |
| 18:45673035:G:A | G789R | 0.973 |
| 18:45673035:G:C | G789R | 0.973 |
| 18:45626999:G:T | G125W | 0.972 |
| 18:45673024:G:A | G785E | 0.972 |
| 18:45682340:T:A | W862R | 0.972 |
| 18:45682340:T:C | W862R | 0.972 |
| 18:45626999:G:A | G125R | 0.971 |
| 18:45626999:G:C | G125R | 0.971 |
dbSNP variants (sampled 300 via entrez): RS1000004871 (18:45524307 A>C), RS1000006994 (18:45296450 G>A,C), RS1000008899 (18:45650712 A>T), RS1000013901 (18:45436460 A>G), RS1000025666 (18:45218700 A>G), RS1000035494 (18:45641149 C>G,T), RS1000037185 (18:45483840 G>A,C), RS1000042961 (18:45322128 G>A), RS1000047777 (18:45680577 T>G), RS1000047878 (18:45516840 G>A,T), RS1000054111 (18:45180353 C>T), RS1000069475 (18:45570813 A>G), RS1000071877 (18:45362163 G>A), RS1000072168 (18:45522776 A>G), RS1000079771 (18:45243827 T>C)
Disease associations
OMIM: gene MIM:601611 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
42 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000328_14 | Biochemical measures | 7.000000e-06 |
| GCST000583_20 | Hematological and biochemical traits | 2.000000e-10 |
| GCST000880_36 | Menarche (age at onset) | 3.000000e-07 |
| GCST001233_16 | Metabolite levels | 8.000000e-14 |
| GCST001610_15 | Renal function-related traits (BUN) | 7.000000e-18 |
| GCST002240_8 | Bladder cancer | 6.000000e-08 |
| GCST002643_9 | Follicular lymphoma | 4.000000e-07 |
| GCST003134_5 | Cerebrospinal fluid clusterin levels | 2.000000e-06 |
| GCST003455_3 | Spherical equivalent (joint analysis main effects and education interaction) | 8.000000e-06 |
| GCST003455_4 | Spherical equivalent (joint analysis main effects and education interaction) | 3.000000e-08 |
| GCST003983_14 | Male-pattern baldness | 8.000000e-15 |
| GCST004278_55 | Pulse pressure | 2.000000e-18 |
| GCST005986_42 | Blood urea nitrogen levels | 6.000000e-37 |
| GCST006291_43 | Spherical equivalent or myopia (age of diagnosis) | 6.000000e-12 |
| GCST006303_24 | Nicotine withdrawal symptom count | 4.000000e-08 |
| GCST006661_284 | Male-pattern baldness | 3.000000e-27 |
| GCST006869_16 | Nicotine withdrawal | 5.000000e-07 |
| GCST006979_271 | Heel bone mineral density | 9.000000e-10 |
| GCST007096_97 | Pulse pressure | 9.000000e-24 |
| GCST007097_133 | Pulse pressure | 3.000000e-12 |
| GCST007097_134 | Pulse pressure | 1.000000e-12 |
| GCST007099_83 | Systolic blood pressure | 2.000000e-08 |
| GCST007327_35 | Smoking status (ever vs never smokers) | 7.000000e-09 |
| GCST007429_88 | Lung function (FVC) | 5.000000e-07 |
| GCST007431_62 | Lung function (FEV1/FVC) | 5.000000e-10 |
| GCST007432_98 | FEV1 | 1.000000e-13 |
| GCST008062_6 | Blood urea nitrogen levels | 4.000000e-49 |
| GCST008399_5 | Cocaine dependence | 4.000000e-06 |
| GCST008759_25 | Intake of total sugars | 1.000000e-06 |
| GCST008971_127 | Urate levels | 2.000000e-06 |
EFO canonical traits (20, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004761 | uric acid measurement |
| EFO:0004703 | age at menarche |
| EFO:0004784 | self reported educational attainment |
| EFO:0005763 | pulse pressure measurement |
| EFO:0004847 | age at onset |
| EFO:0009263 | nicotine withdrawal symptom count |
| EFO:0009362 | nicotine withdrawal measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0006335 | systolic blood pressure |
| EFO:0004318 | smoking behavior |
| EFO:0004312 | vital capacity |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0004314 | forced expiratory volume |
| EFO:0010158 | sugar consumption measurement |
| EFO:0004531 | urate measurement |
| EFO:0010504 | inositol measurement |
| EFO:0006501 | carotid plaque build |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
2 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs1123617 | Efficacy | 3 | nifedipine | Hypertension |
| rs3745009 | Efficacy | 3 | nifedipine | Hypertension |
PharmGKB variants
3 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1123617 | SLC14A2 | 3 | 4.50 | 1 | nifedipine |
| rs3745009 | SLC14A2 | 3 | 4.50 | 1 | nifedipine |
| rs12456693 | SLC14A2 | 0.00 | 0 |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC14 family of facilitative urea transporters
Most potent curated ligand interactions (2 total), top 2:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| compound E3 | Inhibition | 7.72 | pIC50 |
| compound 8ay [PMID: 29589443] | Inhibition | 6.82 | pIC50 |
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, increases methylation, decreases expression, decreases methylation | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Amiodarone | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Chloroquine | decreases reaction, affects localization | 1 |
| Hydroxyurea | increases uptake | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Vanadium | increases expression | 1 |
| Zinc | increases expression | 1 |
| Coal Ash | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A6IW | MDCK-UT-A1 | Spontaneously immortalized cell line | Female |
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): alopecia, androgenetic alopecia, cocaine dependence, neoplasm of mature B-cells, refractive error, Takayasu arteritis, urinary bladder carcinoma