RHCG

Summary

RHCG (Rh family C glycoprotein, HGNC:18140) is a protein-coding gene on chromosome 15q26.1, encoding Ammonium transporter Rh type C (Q9UBD6). Ammonium transporter involved in the maintenance of acid-base homeostasis.

Enables several functions, including ammonium channel activity; ankyrin binding activity; and carbon dioxide transmembrane transporter activity. Involved in ammonium transmembrane transport; intracellular monoatomic ion homeostasis; and transepithelial ammonium transport. Located in apical plasma membrane and basolateral plasma membrane.

Source: NCBI Gene 51458 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 84 total
• MANE Select transcript: NM_016321

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18140
Approved symbol	RHCG
Name	Rh family C glycoprotein
Location	15q26.1
Locus type	gene with protein product
Status	Approved
Aliases	RHGK, PDRC2, SLC42A3
Ensembl gene	ENSG00000140519
Ensembl biotype	protein_coding
OMIM	605381
Entrez	51458

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 4 nonsense_mediated_decay, 1 retained_intron

ENST00000268122, ENST00000558030, ENST00000558184, ENST00000558360, ENST00000559638, ENST00000560081, ENST00000649642, ENST00000909203, ENST00000909204, ENST00000909205, ENST00000909206, ENST00000940753

RefSeq mRNA: 2 — MANE Select: NM_016321 NM_001321041, NM_016321

CCDS: CCDS10351

Canonical transcript exons

ENST00000268122 — 11 exons

Exon	Start	End
ENSE00000943517	89486799	89486985
ENSE00001920999	89471407	89471855
ENSE00003491290	89476755	89476828
ENSE00003501105	89477082	89477206
ENSE00003590284	89480261	89480408
ENSE00003608899	89477837	89477974
ENSE00003642490	89483067	89483217
ENSE00003685084	89479322	89479488
ENSE00003994349	89472711	89472863
ENSE00003994352	89496361	89496583
ENSE00003994354	89477517	89477653

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 99.95.

FANTOM5 (CAGE): breadth broad, TPM avg 9.5182 / max 2821.5735, expressed in 279 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
151444	9.3898	264
151445	0.1108	32
151443	0.0177	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.95	gold quality
pharyngeal mucosa	UBERON:0000355	99.82	gold quality
buccal mucosa cell	CL:0002336	99.73	gold quality
oral cavity	UBERON:0000167	99.56	gold quality
esophagus mucosa	UBERON:0002469	99.56	gold quality
esophagus squamous epithelium	UBERON:0006920	99.35	gold quality
body of tongue	UBERON:0011876	99.25	gold quality
tongue squamous epithelium	UBERON:0006919	98.96	gold quality
squamous epithelium	UBERON:0006914	98.86	gold quality
cervix epithelium	UBERON:0004801	98.67	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	98.55	gold quality
gingiva	UBERON:0001828	98.52	gold quality
epithelium of esophagus	UBERON:0001976	98.31	gold quality
gingival epithelium	UBERON:0001949	98.14	gold quality
penis	UBERON:0000989	97.78	gold quality
cervix squamous epithelium	UBERON:0006922	97.67	gold quality
tongue	UBERON:0001723	97.27	gold quality
periodontal ligament	UBERON:0008266	95.86	gold quality
tonsil	UBERON:0002372	95.36	gold quality
superior surface of tongue	UBERON:0007371	94.59	gold quality
vagina	UBERON:0000996	94.01	gold quality
adult mammalian kidney	UBERON:0000082	93.78	gold quality
mouth mucosa	UBERON:0003729	93.12	gold quality
minor salivary gland	UBERON:0001830	92.22	gold quality
mammalian vulva	UBERON:0000997	91.20	gold quality
metanephros cortex	UBERON:0010533	90.43	gold quality
amniotic fluid	UBERON:0000173	89.46	gold quality
saliva-secreting gland	UBERON:0001044	88.77	gold quality
esophagus	UBERON:0001043	85.86	gold quality
kidney	UBERON:0002113	85.72	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	15740.67
E-HCAD-1	yes	7021.81
E-MTAB-10596	yes	1964.38
E-MTAB-8142	yes	1919.85
E-ANND-3	yes	26.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting RHCG, 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-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-5187-5P	98.54	67.94	952
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-6728-5P	97.79	66.33	891
HSA-MIR-4286	97.20	64.37	1587
HSA-MIR-2114-3P	95.45	66.11	579
HSA-MIR-6823-3P	95.45	66.14	704

Literature-anchored findings (GeneRIF, showing 17)

• RhBG and RhCG facilitate ammonium movement across the plasma membrane; these results favor the hypothesis that these Rh glycoproteins, together with their homolog RhAG, constitute a family of NH3 channels in mammalian cells. (PMID:15929723)
• RhCG expression enhanced the ammonium-induced initial alkalinization (related to NH3 influx)& secondary acidification (related to NH4+ influx). Sub-millimolar NH4+ concentrations induced inward currents in voltage-clamped RhCG-expressing cells. (PMID:16564724)
• Review. Mutations at positions F74, V137 and F235 resulted in a severe reduction of NH3 transport. (PMID:16580862)
• This study concludes that under normal conditions, RhCG is the major putative ammonia transporter expressed in the human kidney and RhBG is not expressed at detectable levels. (PMID:19357182)
• Rhbg and Rhcg may contribute to bronchial epithelial cell ammonia metabolism and suggest that they do not contribute to pulmonary carbon dioxide transport. (PMID:19429772)
• major finding of this study is that RhCG protein is active as an NH(3) channel and that this function does not require any protein partner (PMID:20126667)
• X-ray crystallographic structure of human RhCG, determined at 2.1 A resolution, reveals the mechanism of ammonia transport. (PMID:20457942)
• Amt and Rh proteins are not functionally equivalent and that permeation takes place according to two distinct mechanisms. (PMID:24021113)
• RhAG, RhBG and RhCG-exhibit significant permeability to NH3 and show for the first time that RhBG and RhCG can conduct CO2. (PMID:24077989)
• Rh B Glycoprotein (Rhbg) and Rh C Glycoprotein (Rhcg) are identified as ammonia transporters. They are expressed in specific cell populations and membrane domains in distal renal epithelial cells, where they facilitate ammonia secretion. (PMID:24647713)
• The molecular mechanism of NH4(+) recruitment and NH3 transport by RHCG is described. (PMID:26190573)
• RhCG and H+ATPases are located within the same cellular protein complex in the kidney and this interaction is required for maximal urinary acidification by H+-ATPases, a prerequisite for efficient NH3 secretion and urine excretion of NH4+. (PMID:29054531)
• The results support the notion that RHCG is a novel tumor suppressor gene that plays an important role in the development and progression of ESCC. (PMID:29290801)
• RHCG was down-regulated in cervical cancers compared to that in normal cervical tissues, and further decreased in cervical cancer cell lines. Functionally, RHCG overexpression reduced cervical cancer cell proliferation and migration, as evidenced by the decreased transforming growth factor (TGF)-beta1, matrix metalloproteinase (MMP)-2 and MMP-9 expressions in cancer cells. (PMID:29852177)
• Our study reveals that RHCG acts as a tumor suppressor gene that plays a crucial role in inhibiting tumorigenicity and metastasis in head and neck squamous cell carcinoma. (PMID:31170090)
• High RhCG level was correlated with poor prognosis of gastric cancer patients. (PMID:31756312)
• Comprehensive Analysis to Identify Rh Family C Glycoprotein (RHCG) as the Causative Gene for Psoriasis and Search for Alternative Treatment Modalities. (PMID:37664450)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	rhcga	ENSDARG00000003203
danio_rerio	rhcgl1	ENSDARG00000007080
danio_rerio	rhcgb	ENSDARG00000100265
mus_musculus	Rhcg	ENSMUSG00000030549
rattus_norvegicus	Rhcg	ENSRNOG00000015526
drosophila_melanogaster	Rh50	FBGN0028699
caenorhabditis_elegans		WBGENE00004358
caenorhabditis_elegans		WBGENE00004359

Paralogs (4): RHAG (ENSG00000112077), RHBG (ENSG00000132677), RHD (ENSG00000187010), RHCE (ENSG00000188672)

Protein

Protein identifiers

Ammonium transporter Rh type C — Q9UBD6 (reviewed: Q9UBD6)

Alternative names: Rh glycoprotein kidney, Rhesus blood group family type C glycoprotein, Tumor-related protein DRC2

All UniProt accessions (6): A0A3B3IT41, Q9UBD6, H0YKQ3, H0YM79, H0YMF8, H0YMS1

UniProt curated annotations — full annotation on UniProt →

Function. Ammonium transporter involved in the maintenance of acid-base homeostasis. Transports ammonium and its related derivative methylammonium across the plasma membrane of epithelial cells likely contributing to renal transepithelial ammonia transport and ammonia metabolism. Postulated to primarily mediate an electroneutral bidirectional transport of NH3 ammonia species according to a mechanism that implies interaction of an NH4(+) ion with acidic residues of the pore entry followed by dissociation of NH4(+) into NH3 and H(+). As a result NH3 transits through the central pore and is protonated on the extracellular side reforming NH4(+). May act as a CO2 channel providing for renal acid secretion.

Subunit / interactions. Homotrimer.

Subcellular location. Cell membrane. Apical cell membrane.

Tissue specificity. Expressed in brain, testis, placenta, pancreas, esophagus and prostate. Expressed in squamous epithelial tissues (at protein level). Expressed in kidney.

Post-translational modifications. N-glycosylated.

Similarity. Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.

RefSeq proteins (2): NP_001307970, NP_057405* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002229	RhesusRHD	Family
IPR024041	NH4_transpt_AmtB-like_dom	Domain
IPR029020	Ammonium/urea_transptr	Homologous_superfamily

Pfam: PF00909

Catalyzed reactions (Rhea), 3 shown:

• NH4(+)(in) = NH4(+)(out) (RHEA:28747)
• methylamine(out) = methylamine(in) (RHEA:74391)
• CO2(out) = CO2(in) (RHEA:74891)

UniProt features (60 total): helix 19, topological domain 13, transmembrane region 12, turn 6, mutagenesis site 4, sequence conflict 2, chain 1, glycosylation site 1, sequence variant 1, strand 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3HD6	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBD6-F1	92.43	0.85

Functional residue map

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

Glycosylation sites (1): 48

Mutagenesis-validated functional residues (4):

Position	Phenotype
74	reduction of ammonia transport.
137	reduction of ammonia transport.
177	loss of function.
235	reduction of ammonia transport.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-444411	Rhesus glycoproteins mediate ammonium transport

MSigDB gene sets: 95 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, TGACCTY_ERR1_Q2, AATGGAG_MIR136, GOBP_ONE_CARBON_COMPOUND_TRANSPORT, GOBP_GAS_TRANSPORT, GOBP_TRANSEPITHELIAL_TRANSPORT, HUPER_BREAST_BASAL_VS_LUMINAL_UP, GOBP_REGULATION_OF_PH, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_MONOATOMIC_ION_HOMEOSTASIS, CCAGGGG_MIR331, GOBP_TRANSMEMBRANE_TRANSPORT, TGACCTTG_SF1_Q6, GOCC_APICAL_PART_OF_CELL, GOBP_HOMEOSTATIC_PROCESS

GO Biological Process (9): intracellular monoatomic ion homeostasis (GO:0006873), regulation of pH (GO:0006885), amine transport (GO:0015837), epithelial cell differentiation (GO:0030855), homeostatic process (GO:0042592), transepithelial ammonium transport (GO:0070634), ammonium transmembrane transport (GO:0072488), ammonium homeostasis (GO:0097272), carbon dioxide transmembrane transport (GO:0035378)

GO Molecular Function (5): ammonium channel activity (GO:0008519), ankyrin binding (GO:0030506), carbon dioxide transmembrane transporter activity (GO:0035379), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (6): plasma membrane (GO:0005886), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), cytoplasmic vesicle (GO:0031410), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Miscellaneous transport and binding events	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nitrogen compound transport	3
transmembrane transport	2
plasma membrane region	2
monoatomic ion homeostasis	1
intracellular chemical homeostasis	1
monoatomic cation homeostasis	1
biological regulation	1
cell differentiation	1
epithelium development	1
biological_process	1
transepithelial transport	1
inorganic ion homeostasis	1
carbon dioxide transport	1
channel activity	1
ammonium transmembrane transport	1
cytoskeletal protein binding	1
transmembrane transporter activity	1
carbon dioxide transmembrane transport	1
protein binding	1
binding	1
membrane	1
cell periphery	1
basal plasma membrane	1
apical part of cell	1
cytoplasm	1
intracellular vesicle	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

806 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RHCG	CD47	Q08722	787
RHCG	SLC4A1	P02730	731
RHCG	GNRH1	P01148	664
RHCG	RALYL	Q86SE5	639
RHCG	UMOD	P07911	528
RHCG	AMH	P03971	524
RHCG	SLC9A4	Q6AI14	514
RHCG	CA9	Q16790	503
RHCG	GYPB	P06028	486
RHCG	SLC9A3	P48764	484
RHCG	LHCGR	P22888	482
RHCG	CRABP2	P29373	467
RHCG	TICRR	Q7Z2Z1	467
RHCG	SLC12A1	Q13621	464
RHCG	AP5S1	Q9NUS5	435

IntAct

52 interactions, top by confidence:

A	B	Type	Score
EFNA5	RHCG	psi-mi:“MI:0915”(physical association)	0.670
RHCG	SCARB2	psi-mi:“MI:0915”(physical association)	0.590
RHCG	RHCG	psi-mi:“MI:0407”(direct interaction)	0.560
LEPROT	RHCG	psi-mi:“MI:0915”(physical association)	0.560
IGFBP5	RHCG	psi-mi:“MI:0915”(physical association)	0.560
CXCL9	RHCG	psi-mi:“MI:0915”(physical association)	0.560
FXYD6	RHCG	psi-mi:“MI:0915”(physical association)	0.560
MS4A13	RHCG	psi-mi:“MI:0915”(physical association)	0.560
C1QL4	RHCG	psi-mi:“MI:0915”(physical association)	0.560
UPK1B	RHCG	psi-mi:“MI:0915”(physical association)	0.560
TUSC5	RHCG	psi-mi:“MI:0915”(physical association)	0.560
TMEM60	RHCG	psi-mi:“MI:0915”(physical association)	0.560
YIPF6	RHCG	psi-mi:“MI:0915”(physical association)	0.560
ERMP1	RHCG	psi-mi:“MI:0915”(physical association)	0.560
TMEM97	RHCG	psi-mi:“MI:0915”(physical association)	0.560
GPR25	RHCG	psi-mi:“MI:0915”(physical association)	0.560
ARLN	RHCG	psi-mi:“MI:0915”(physical association)	0.560
SSUH2	IGLC7	psi-mi:“MI:0914”(association)	0.350
RHCG	TMEM223	psi-mi:“MI:0914”(association)	0.350
CXCL9	RHCG	psi-mi:“MI:0915”(physical association)	0.000
FXYD6	RHCG	psi-mi:“MI:0915”(physical association)	0.000
MS4A13	RHCG	psi-mi:“MI:0915”(physical association)	0.000
C1QL4	RHCG	psi-mi:“MI:0915”(physical association)	0.000
UPK1B	RHCG	psi-mi:“MI:0915”(physical association)	0.000
TUSC5	RHCG	psi-mi:“MI:0915”(physical association)	0.000
TMEM60	RHCG	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (64): SCARB2 (Affinity Capture-MS), RHCG (Two-hybrid), RHCG (Two-hybrid), RHCG (Two-hybrid), RHCG (Two-hybrid), RHCG (Two-hybrid), RHCG (Two-hybrid), RHCG (Two-hybrid), C4orf3 (Two-hybrid), GPR25 (Two-hybrid), YIPF6 (Two-hybrid), EFNA5 (Two-hybrid), TUSC5 (Two-hybrid), C1QL4 (Two-hybrid), MS4A13 (Two-hybrid)

ESM2 similar proteins: A0A072VHJ1, G7L1W7, G7LAA8, P40260, P41948, P53390, Q02094, Q0IIV2, Q18PF5, Q18PF6, Q19KH7, Q19KI0, Q20CR3, Q2T9S6, Q3BBX7, Q3BBX8, Q3BCQ4, Q3BCQ5, Q3BCQ7, Q4VUI0, Q4VUZ1, Q5NVA3, Q5U4V1, Q68FT6, Q69D47, Q69D48, Q69T29, Q6DCG4, Q6WRY0, Q6XL41, Q7T070, Q7T3R4, Q7TNK7, Q7TNN9, Q84KJ6, Q84KJ7, Q851M9, Q8BUX5, Q8JI14, Q8S230

Diamond homologs: O88298, P18577, Q02094, Q02161, Q0IIV2, Q18PF5, Q18PF6, Q19KH7, Q19KI0, Q20CR3, Q28426, Q28427, Q28446, Q28481, Q28812, Q28813, Q28814, Q28849, Q2T9S6, Q3BBX7, Q3BBX8, Q3BCQ4, Q3BCQ5, Q3BCQ7, Q4VUI0, Q4VUZ1, Q5NVA3, Q5U4V1, Q68FT6, Q69D47, Q69D48, Q6DCG4, Q6WRY0, Q6XL41, Q7T070, Q7T3R4, Q7TNK7, Q7TNN9, Q8BUX5, Q8CF94

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2287 predictions. Top by Δscore:

Variant	Effect	Δscore
15:89476748:AACTC:A	donor_loss	1.0000
15:89476749:ACTCA:A	donor_loss	1.0000
15:89476750:CTCA:C	donor_loss	1.0000
15:89476751:TCA:T	donor_loss	1.0000
15:89476752:CA:C	donor_loss	1.0000
15:89476827:CC:C	acceptor_gain	1.0000
15:89476828:CC:C	acceptor_gain	1.0000
15:89476829:C:CC	acceptor_gain	1.0000
15:89477146:T:A	donor_gain	1.0000
15:89477503:T:TA	donor_gain	1.0000
15:89477515:A:AC	donor_gain	1.0000
15:89477515:AC:A	donor_gain	1.0000
15:89477516:C:CC	donor_gain	1.0000
15:89477516:CC:C	donor_gain	1.0000
15:89477516:CCCTT:C	donor_gain	1.0000
15:89477831:ACTT:A	donor_loss	1.0000
15:89477832:CTTAC:C	donor_loss	1.0000
15:89477833:TTAC:T	donor_loss	1.0000
15:89477835:A:AC	donor_gain	1.0000
15:89477835:ACGG:A	donor_loss	1.0000
15:89477835:ACGGT:A	donor_gain	1.0000
15:89477836:C:CG	donor_gain	1.0000
15:89477836:CG:C	donor_gain	1.0000
15:89477836:CGG:C	donor_gain	1.0000
15:89477836:CGGT:C	donor_gain	1.0000
15:89477836:CGGTC:C	donor_gain	1.0000
15:89477976:T:A	acceptor_loss	1.0000
15:89479316:GCTCA:G	donor_loss	1.0000
15:89479317:CTCAC:C	donor_loss	1.0000
15:89479318:TCACC:T	donor_loss	1.0000

AlphaMissense

3152 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:89479416:C:G	R248P	0.999
15:89479451:G:C	N236K	0.999
15:89479451:G:T	N236K	0.999
15:89479454:G:C	F235L	0.999
15:89479454:G:T	F235L	0.999
15:89479456:A:G	F235L	0.999
15:89479474:A:G	W229R	0.999
15:89479474:A:T	W229R	0.999
15:89480402:C:G	D177H	0.999
15:89477586:C:T	G348D	0.998
15:89477623:C:G	D336H	0.998
15:89477883:C:T	G310D	0.998
15:89477932:C:G	G294R	0.998
15:89477944:C:A	G290W	0.998
15:89477946:C:T	G289E	0.998
15:89479455:A:G	F235S	0.998
15:89479457:G:C	S234R	0.998
15:89479457:G:T	S234R	0.998
15:89479459:T:G	S234R	0.998
15:89479461:G:T	P233H	0.998
15:89479465:A:G	W232R	0.998
15:89479465:A:T	W232R	0.998
15:89479488:C:T	G224D	0.998
15:89480261:C:G	G224R	0.998
15:89480378:G:C	H185D	0.998
15:89480395:C:T	G179E	0.998
15:89486930:G:C	F80L	0.998
15:89486930:G:T	F80L	0.998
15:89486932:A:G	F80L	0.998
15:89486952:C:T	G73D	0.998

dbSNP variants (sampled 300 via entrez): RS1000104218 (15:89475967 T>C,G), RS1000147307 (15:89493455 G>A), RS1000152735 (15:89474432 C>T), RS1000171442 (15:89477202 C>A,T), RS1000242882 (15:89497657 A>G), RS1000322341 (15:89492183 C>G), RS1000480753 (15:89492298 G>A,C,T), RS1000511415 (15:89492493 G>A), RS1000539680 (15:89476212 G>A), RS1000572428 (15:89497487 T>A), RS1000819975 (15:89487172 A>G), RS1000852293 (15:89485677 A>G), RS1000913373 (15:89481093 C>T), RS1001136059 (15:89480643 A>C,G), RS1001394799 (15:89497045 G>C)

Disease associations

OMIM: gene MIM:605381 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST008295_22	Number of decayed, missing and filled tooth surfaces or use of dentures	5.000000e-08
GCST008306_7	Dentures	8.000000e-07
GCST010989_75	Body size at age 10	4.000000e-08
GCST012490_603	Femur bone mineral density x serum urate levels interaction	4.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0010078	dentures
EFO:0009819	comparative body size at age 10, self-reported
EFO:0004531	urate measurement

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 — SLC42 family of Rhesus glycoprotein ammonium transporters

CTD chemical–gene interactions

32 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Doxorubicin	decreases expression, increases expression	2
propionaldehyde	increases expression	1
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
hydroquinone	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, affects response to substance, increases expression	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
3-iodothyronamine	affects uptake	1
abrine	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Aldehydes	increases expression	1
Ammonia	affects metabolic processing, affects secretion	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Lipopolysaccharides	increases expression, affects response to substance, affects cotreatment	1
Methapyrilene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases expression	1
Asbestos, Crocidolite	increases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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