FXYD3

Summary

FXYD3 (FXYD domain containing ion transport regulator 3, HGNC:4027) is a protein-coding gene on chromosome 19q13.12, encoding FXYD domain-containing ion transport regulator 3 (Q14802). Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell.

This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 5349 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_005971

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4027
Approved symbol	FXYD3
Name	FXYD domain containing ion transport regulator 3
Location	19q13.12
Locus type	gene with protein product
Status	Approved
Aliases	MAT-8
Ensembl gene	ENSG00000089356
Ensembl biotype	protein_coding
OMIM	604996
Entrez	5349

Gene structure

Transcript identifiers

Ensembl transcripts: 56 — 55 protein_coding, 1 retained_intron

ENST00000344013, ENST00000346446, ENST00000435734, ENST00000603181, ENST00000603449, ENST00000603524, ENST00000604255, ENST00000604404, ENST00000604504, ENST00000604621, ENST00000604804, ENST00000605550, ENST00000605552, ENST00000605677, ENST00000874694, ENST00000874695, ENST00000874696, ENST00000874697, ENST00000874698, ENST00000874699, ENST00000874700, ENST00000874701, ENST00000874702, ENST00000874703, ENST00000874704, ENST00000874705, ENST00000874706, ENST00000874707, ENST00000874708, ENST00000874709, ENST00000874710, ENST00000874711, ENST00000874712, ENST00000874713, ENST00000874714, ENST00000874715, ENST00000921323, ENST00000921324, ENST00000956835, ENST00000956836, ENST00000956837, ENST00000956838, ENST00000956839, ENST00000956840, ENST00000956841, ENST00000956842, ENST00000956843, ENST00000956844, ENST00000956845, ENST00000956846, ENST00000956847, ENST00000956848, ENST00000956849, ENST00000956850, ENST00000956851, ENST00000956852

RefSeq mRNA: 14 — MANE Select: NM_005971 NM_001136007, NM_001136008, NM_001136009, NM_001136010, NM_001136011, NM_001136012, NM_001387349, NM_001387350, NM_001387352, NM_001387353, NM_001387354, NM_001387355, NM_005971, NM_021910

CCDS: CCDS12442, CCDS12443, CCDS46048, CCDS46049, CCDS46050, CCDS92586

Canonical transcript exons

ENST00000604404 — 9 exons

Exon	Start	End
ENSE00001114491	35122918	35122954
ENSE00001158068	35121222	35121245
ENSE00001158077	35121078	35121110
ENSE00001307555	35122765	35122839
ENSE00001376912	35123271	35123308
ENSE00002304048	35116264	35116359
ENSE00003512885	35123441	35124324
ENSE00003524428	35115823	35115959
ENSE00003540104	35119363	35119416

Expression profiles

Bgee: expression breadth ubiquitous, 127 present calls, max score 99.92.

FANTOM5 (CAGE): breadth broad, TPM avg 56.4223 / max 2367.5145, expressed in 480 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175207	53.8806	372
175204	1.3591	305
175206	0.4100	206
175205	0.3149	128
175202	0.1370	72
175209	0.1352	74
175203	0.0980	51
175208	0.0664	29
175201	0.0211	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	99.92	gold quality
rectum	UBERON:0001052	99.83	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.73	gold quality
skin of abdomen	UBERON:0001416	99.32	gold quality
esophagus mucosa	UBERON:0002469	99.26	gold quality
lower esophagus mucosa	UBERON:0035834	99.25	gold quality
zone of skin	UBERON:0000014	99.17	gold quality
skin of leg	UBERON:0001511	99.06	gold quality
saliva-secreting gland	UBERON:0001044	99.00	gold quality
minor salivary gland	UBERON:0001830	98.96	gold quality
prostate gland	UBERON:0002367	98.41	gold quality
right uterine tube	UBERON:0001302	98.26	gold quality
tonsil	UBERON:0002372	98.26	gold quality
right lung	UBERON:0002167	97.83	gold quality
gall bladder	UBERON:0002110	97.48	gold quality
duodenum	UBERON:0002114	97.37	gold quality
upper lobe of left lung	UBERON:0008952	97.12	gold quality
placenta	UBERON:0001987	97.09	gold quality
transverse colon	UBERON:0001157	97.02	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.03	gold quality
vagina	UBERON:0000996	95.73	gold quality
islet of Langerhans	UBERON:0000006	95.11	gold quality
small intestine	UBERON:0002108	94.99	gold quality
body of stomach	UBERON:0001161	94.76	gold quality
lung	UBERON:0002048	94.67	gold quality
stomach	UBERON:0000945	94.54	gold quality
body of pancreas	UBERON:0001150	94.39	gold quality
pancreas	UBERON:0001264	93.94	gold quality
intestine	UBERON:0000160	93.72	gold quality
colon	UBERON:0001155	93.20	gold quality

Single-cell (SCXA)

Detected in 29 experiment(s), a significant marker in 28.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	5372.70
E-MTAB-10855	yes	3731.86
E-MTAB-6653	yes	3509.20
E-CURD-46	yes	2916.58
E-MTAB-8410	yes	2368.29
E-CURD-122	yes	1831.87
E-MTAB-8221	yes	1533.76
E-MTAB-8495	yes	1448.41
E-HCAD-1	yes	1214.55
E-HCAD-10	yes	1090.19
E-MTAB-6701	yes	1057.92
E-ANND-2	yes	643.47
E-MTAB-8530	yes	351.13
E-GEOD-81383	yes	258.59
E-GEOD-81608	yes	202.95

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, FOXO3, SMAD2, ZEB1

miRNA regulators (miRDB)

48 targeting FXYD3, 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-4455	100.00	65.48	1587
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-609	99.82	64.26	505
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-8061	99.63	69.44	1411
HSA-MIR-567	99.63	68.57	1219
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-3923	99.52	69.21	446
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-297	99.40	69.58	1418
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-1304-5P	98.90	68.58	1054
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-3150B-3P	98.81	67.21	1728

Literature-anchored findings (GeneRIF, showing 22)

• molecular cloning, protein expression, sequencing and NMR structure determination (PMID:12535606)
• Results indicate that the human MAT-8 gene contains the potential to serve as a prostate cancer expression marker and that MAT-8 plays an important role in cellular growth of prostate carcinomas. (PMID:14654946)
• overexpression of FXYD3 in pancreatic cancer may contribute to the proliferative activity of this malignancy (PMID:16003754)
• show that the helical regions and connecting segments of FXYD1, FXYD3, and FXYD4 determined in micelles by NMR spectroscopy coincide with the positions of intron-exon junctions in the genes (PMID:16288923)
• analysis of two human FXYD3 isoforms that are differentially expressed in differentiated and non-differentiated cells with different functional properties (PMID:17077088)
• FXYD3 interacts with Na(+)-K(+)-Exchanging ATPase in colorectal neoplasms. (PMID:17409496)
• structures of the FXYD proteins (with emphasis on 1-4), as well as their dynamics and their associations with the lipid (PMID:18000745)
• FXYD3 silencing prevents proper regulation of Na,K-ATPase, which leads to perturbation of cellular Na+ and K+ homeostasis and changes in the expression of Na,K-ATPase isozymes, whose functional properties are incompatible with cell differentiation. (PMID:19109419)
• FXYD3a protein is highly expressed in breast cancers, and responsible for cancer cell proliferation. (PMID:19571376)
• inactivation of FXYD3 through a gene mutation or unknown mechanism could be one cause of the atypical shapes of cancer cells and play a potential role in the progression of lung cancer. (PMID:19893046)
• FXYD3 expression is related to several biological variables including ras, p53, legumain and PCNA, and may be involved in the development of the relatively early stages of colorectal cancers (PMID:19955746)
• Upregulation of FXYD3 is associated with glioma. (PMID:20112499)
• Up-regulated expression of FXYD-3 protein may be involved in tumourgenesis and invasion of gastric adenocarcinoma. (PMID:20364041)
• ExoS facilitates P. aeruginosa penetration through the intestinal epithelial barrier by binding to FXYD3 and thereby impairing the defense function of tight junctions against bacterial penetration. (PMID:20805335)
• All three markers correlated significantly with regional lymph node metastasis: FXYD3 (p = 0.0110), S100A11 (p = 0.0071), and GSTM3 (p = 0.0173) in colon cancer lymphatic metastasis. (PMID:22430872)
• Study demonstrated that the expression of FXYD1, FXYD3 and FXYD5 is elevated in the lungs of Acute respiratory distress syndrome patients (PMID:26410457)
• Suppression of FXYD3 in MCF-7. (PMID:26740212)
• Scn1b and Fxyd1 expression was significantly downregulated in HSCR colon. (PMID:30386899)
• Control of protein palmitoylation by regulating substrate recruitment to a zDHHC-protein acyltransferase. (PMID:32737405)
• FXYD3 facilitates Na(+) and liquid absorption across human airway epithelia by increasing the transport capacity of the Na/K ATPase. (PMID:35993520)
• FXYD3 enhances IL-17A signaling to promote psoriasis by competitively binding TRAF3 in keratinocytes. (PMID:36693922)
• FXYD3 functionally demarcates an ancestral breast cancer stem cell subpopulation with features of drug-tolerant persisters. (PMID:37966117)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fxyd3	ENSMUSG00000057092
rattus_norvegicus	Fxyd3	ENSRNOG00000080106

Paralogs (6): FXYD5 (ENSG00000089327), FXYD6 (ENSG00000137726), FXYD2 (ENSG00000137731), FXYD4 (ENSG00000150201), FXYD7 (ENSG00000221946), FXYD1 (ENSG00000266964)

Protein

Protein identifiers

FXYD domain-containing ion transport regulator 3 — Q14802 (reviewed: Q14802)

Alternative names: Chloride conductance inducer protein Mat-8, Mammary tumor 8 kDa protein, Phospholemman-like, Sodium/potassium-transporting ATPase subunit FXYD3

All UniProt accessions (3): Q14802, S4R3M2, S4R445

UniProt curated annotations — full annotation on UniProt →

Function. Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes. Decreases the apparent K+ and Na+ affinity of the sodium/potassium-transporting ATPase over a large range of membrane potentials. Decreases the apparent K+ affinity of the sodium/potassium-transporting ATPase only at slightly negative and positive membrane potentials and increases the apparent Na+ affinity over a large range of membrane potentials.

Subunit / interactions. Regulatory subunit of the sodium/potassium-transporting ATPase which is composed of a catalytic alpha subunit, a non-catalytic beta subunit and an additional regulatory subunit. Interacts with catalytic alpha subunit ATP1A1. Also interacts with non-catalytic beta subunit ATP1B1. Interacts with the ATP1A1-ATP1B1, ATP1A2-ATP1B1 and ATP1A3-ATP1B1 NKA isozymes.

Subcellular location. Cell membrane.

Tissue specificity. Isoform 1: Expressed mainly in differentiated cells (at protein level). Isoform 2: Expressed mainly in undifferentiated cells (at protein level).

Post-translational modifications. Glutathionylated.

Miscellaneous. Marker of a cell type preferentially transformed by neu or ras oncoprotein.

Similarity. Belongs to the FXYD family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q14802-1	1, FXYD3-sf	yes
Q14802-2	2, FXYD3-lf
Q14802-3	3
Q14802-4	4
Q14802-5	5

RefSeq proteins (14): NP_001129479, NP_001129480, NP_001129481, NP_001129482, NP_001129483, NP_001129484, NP_001374278, NP_001374279, NP_001374281, NP_001374282, NP_001374283, NP_001374284, NP_005962, NP_068710 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000272	Ion-transport_regulator_FXYD	Family
IPR047297	FXYD_motif	Conserved_site

Pfam: PF02038

UniProt features (16 total): mutagenesis site 4, splice variant 4, topological domain 2, signal peptide 1, chain 1, sequence variant 1, sequence conflict 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14802-F1	68.22	0.06

Functional residue map

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

Mutagenesis-validated functional residues (4):

Position	Phenotype
44	abolishes glutathionylation but does not affect interaction with atp1b1; when associated with s-49; s-61 and s-63.
49	abolishes glutathionylation but does not affect interaction with atp1b1; when associated with s-43; s-61 and s-63.
61	abolishes glutathionylation but does not affect interaction with atp1b1; when associated with s-43; s-49 and s-63.
63	abolishes glutathionylation but does not affect interaction with atp1b1; when associated with s-43; s-49 and s-61.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-5578775	Ion homeostasis
R-HSA-936837	Ion transport by P-type ATPases
R-HSA-9679191	Potential therapeutics for SARS

MSigDB gene sets: 193 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_TRANSMEMBRANE_ELECTROCHEMICAL_GRADIENT, KOBAYASHI_EGFR_SIGNALING_24HR_UP, JAEGER_METASTASIS_DN, LFA1_Q6, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, MODULE_64, AREB6_01, GOBP_POTASSIUM_ION_HOMEOSTASIS, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_SODIUM_ION_TRANSPORT, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, CAGCTG_AP4_Q5, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT

GO Biological Process (7): potassium ion transport (GO:0006813), sodium ion transport (GO:0006814), chloride transport (GO:0006821), positive regulation of sodium ion export across plasma membrane (GO:1903278), monoatomic ion transport (GO:0006811), regulation of monoatomic ion transport (GO:0043269), chloride transmembrane transport (GO:1902476)

GO Molecular Function (5): chloride channel activity (GO:0005254), sodium channel regulator activity (GO:0017080), ATPase binding (GO:0051117), protein binding (GO:0005515), ion channel regulator activity (GO:0099106)

GO Cellular Component (4): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Cardiac conduction	1
Ion channel transport	1
SARS-CoV Infections	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metal ion transport	2
monoatomic anion transport	1
inorganic anion transport	1
sodium ion export across plasma membrane	1
positive regulation of sodium ion transmembrane transport	1
regulation of sodium ion export across plasma membrane	1
transport	1
monoatomic ion transport	1
regulation of transport	1
chloride transport	1
monoatomic anion transmembrane transport	1
monoatomic anion channel activity	1
chloride transmembrane transporter activity	1
sodium channel activity	1
ion channel regulator activity	1
enzyme binding	1
binding	1
monoatomic ion channel activity	1
channel regulator activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

594 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FXYD3	FXYD7	P58549	775
FXYD3	FXYD5	Q96DB9	738
FXYD3	FXYD2	P54710	680
FXYD3	ESR1	P03372	487
FXYD3	SRC	P12931	477
FXYD3	SPINK1	P00995	476
FXYD3	WDR44	Q5JSH3	451
FXYD3	TMEM63A	O94886	435
FXYD3	AGR2	O95994	361
FXYD3	PRSS8	Q16651	359
FXYD3	TECTA	O75443	355
FXYD3	A0A494C0M2	A0A494C0M2	348
FXYD3	SCNN1A	P37088	336
FXYD3	CEBPG	P53567	334
FXYD3	SLC25A40	Q8TBP6	329

IntAct

10 interactions, top by confidence:

A	B	Type	Score
CREB3	FXYD3	psi-mi:“MI:0915”(physical association)	0.550
FXYD3	CREB3	psi-mi:“MI:0915”(physical association)	0.550
FXYD3	MAPK6	psi-mi:“MI:0915”(physical association)	0.370
NUDT3	FXYD3	psi-mi:“MI:0915”(physical association)	0.370
CREB3L1	FXYD3	psi-mi:“MI:0915”(physical association)	0.370
FXYD3	TNPO2	psi-mi:“MI:0914”(association)	0.350
FBXL12	FXYD3	psi-mi:“MI:0915”(physical association)	0.000
NR4A1	FXYD3	psi-mi:“MI:0915”(physical association)	0.000
	FXYD3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (95): FXYD3 (Two-hybrid), CREB3L1 (Two-hybrid), FXYD3 (Two-hybrid), FXYD3 (Synthetic Lethality), FXYD3 (Two-hybrid), FXYD3 (Two-hybrid), FXYD3 (Two-hybrid), FXYD3 (Two-hybrid), FXYD3 (Two-hybrid), FXYD3 (Two-hybrid), FXYD3 (Two-hybrid), FXYD3 (Two-hybrid), FXYD3 (Two-hybrid), FXYD3 (Two-hybrid), MFSD11 (Two-hybrid)

ESM2 similar proteins: A0A1B0GRQ0, A0A1B0GVT2, A2RRL7, C0HJJ0, G1TZA0, I3LMB3, O00168, O08589, O13001, O75264, P04235, P0C2S0, P0DKX4, P0DTF9, P19377, P56513, P58549, P58550, P59646, P59648, P59649, Q04645, Q04646, Q08EA8, Q0VCR2, Q0VG18, Q13113, Q14802, Q1LVN1, Q28F36, Q2KIC8, Q2KIP5, Q3SZX0, Q3ZBJ3, Q569C0, Q58CU5, Q5RA41, Q63113, Q640B5, Q6ITQ4

Diamond homologs: G1TZA0, I3LMB3, O00168, O08589, O13001, O97797, P54710, P56513, P58549, P58550, P59645, P59646, P59647, P59648, P59649, Q04645, Q04646, Q04679, Q04680, Q14802, Q3MHZ5, Q3SZX0, Q3ZBJ3, Q4R566, Q5RB29, Q61835, Q63113, Q91XV6, Q96DB9, Q9D164, Q9D2W0, Q9H0Q3, Q9Z239, W5P3P0, P97808, C0HJJ0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1477 predictions. Top by Δscore:

Variant	Effect	Δscore
19:35116157:G:GT	donor_gain	1.0000
19:35116360:GTG:G	donor_loss	1.0000
19:35116361:T:A	donor_loss	1.0000
19:35122763:AGACT:A	acceptor_gain	1.0000
19:35122764:GACTG:G	acceptor_gain	1.0000
19:35122836:ATGAG:A	donor_loss	1.0000
19:35122837:TGA:T	donor_gain	1.0000
19:35122837:TGAGT:T	donor_loss	1.0000
19:35122838:GA:G	donor_gain	1.0000
19:35122838:GAG:G	donor_gain	1.0000
19:35122838:GAGT:G	donor_loss	1.0000
19:35122839:AGT:A	donor_loss	1.0000
19:35122840:G:GG	donor_gain	1.0000
19:35122840:GTG:G	donor_loss	1.0000
19:35122841:T:G	donor_loss	1.0000
19:35123269:A:AG	acceptor_gain	1.0000
19:35123270:G:GG	acceptor_gain	1.0000
19:35119413:GCAG:G	donor_gain	0.9900
19:35119415:AGG:A	donor_loss	0.9900
19:35119417:G:GC	donor_loss	0.9900
19:35119418:TGA:T	donor_loss	0.9900
19:35119419:GAG:G	donor_loss	0.9900
19:35121072:CACTA:C	acceptor_loss	0.9900
19:35121074:CTAG:C	acceptor_loss	0.9900
19:35121075:TA:T	acceptor_loss	0.9900
19:35121076:A:AG	acceptor_gain	0.9900
19:35121076:AGGCT:A	acceptor_loss	0.9900
19:35121077:G:GG	acceptor_gain	0.9900
19:35121109:AGGTG:A	donor_loss	0.9900
19:35121110:GGTG:G	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000010331 (19:35119553 A>G), RS1000019965 (19:35114459 C>A), RS1000125248 (19:35114117 C>A,T), RS1000187675 (19:35115360 C>G,T), RS1000253211 (19:35124699 G>A), RS1000518170 (19:35113836 A>G), RS1000877578 (19:35119732 G>A), RS1001193572 (19:35113973 C>T), RS1001580398 (19:35118126 T>A,G), RS1001683390 (19:35118412 G>C,T), RS1001916035 (19:35116939 G>A), RS1001968417 (19:35117196 C>T), RS1001970115 (19:35123697 T>C,G), RS1002810907 (19:35120887 G>A), RS1002885358 (19:35122310 A>G)

Disease associations

OMIM: gene MIM:604996 | 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: no

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — Na⁺/K⁺-ATPases

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, affects cotreatment, increases expression, decreases methylation	3
trichostatin A	affects expression, decreases reaction, increases expression	2
Calcitriol	increases expression, affects cotreatment	2
Estradiol	affects cotreatment, decreases expression, increases reaction	2
Aflatoxin B1	increases expression	2
Paclitaxel	increases response to substance, decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone	affects cotreatment, increases expression	1
sodium arsenite	decreases expression	1
4-hydroxy-equilenin	increases expression	1
raltitrexed	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, increases expression	1
Irinotecan	increases expression	1
Oxaliplatin	increases expression	1
Gemcitabine	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Amphotericin B	increases expression	1
Caffeine	increases phosphorylation	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Fluorouracil	increases expression	1
Nickel	affects expression, decreases reaction	1
Progesterone	increases expression	1
Smoke	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Dronabinol	decreases expression	1
Tobacco Smoke Pollution	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_YA45	IDG-HEK293T-FXYD3-V5-OE	Transformed cell line	Female

Clinical trials (associated diseases)

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