HTN3

Summary

HTN3 (histatin 3, HGNC:5284) is a protein-coding gene on chromosome 4q13.3, encoding Histatin-3 (P15516). Histatins are cationic and histidine-rich peptides mainly found in the saliva of higher primates.

This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing.

Source: NCBI Gene 3347 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 5 total
• Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
• MANE Select transcript: NM_000200

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5284
Approved symbol	HTN3
Name	histatin 3
Location	4q13.3
Locus type	gene with protein product
Status	Approved
Aliases	HIS2
Ensembl gene	ENSG00000205649
Ensembl biotype	protein_coding
OMIM	142702
Entrez	3347

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 3 retained_intron

ENST00000381057, ENST00000528003, ENST00000529625, ENST00000530128, ENST00000533547, ENST00000673563

RefSeq mRNA: 1 — MANE Select: NM_000200 NM_000200

CCDS: CCDS33999

Canonical transcript exons

ENST00000672568 — 0 exons

Expression profiles

Bgee: expression breadth broad, 59 present calls, max score 81.93.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 324.1222 / max 367268.3433, expressed in 22 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47865	323.5357	21
47867	0.5073	3
47864	0.0479	5
47866	0.0313	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.93	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.95	gold quality
placenta	UBERON:0001987	70.31	gold quality
tonsil	UBERON:0002372	61.03	gold quality
bone marrow	UBERON:0002371	60.30	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	60.10	gold quality
adenohypophysis	UBERON:0002196	54.54	gold quality
pituitary gland	UBERON:0000007	54.30	gold quality
hindlimb stylopod muscle	UBERON:0004252	45.79	gold quality
colonic epithelium	UBERON:0000397	44.91	silver quality
skeletal muscle tissue	UBERON:0001134	43.47	gold quality
bone marrow cell	CL:0002092	41.38	gold quality
ventricular zone	UBERON:0003053	40.95	gold quality
granulocyte	CL:0000094	40.56	gold quality
saliva-secreting gland	UBERON:0001044	40.46	gold quality
muscle tissue	UBERON:0002385	39.62	gold quality
ganglionic eminence	UBERON:0004023	39.55	gold quality
urinary bladder	UBERON:0001255	38.24	gold quality
rectum	UBERON:0001052	37.72	silver quality
gastrocnemius	UBERON:0001388	37.67	gold quality
sural nerve	UBERON:0015488	37.42	gold quality
muscle of leg	UBERON:0001383	37.29	gold quality
liver	UBERON:0002107	37.09	silver quality
cortical plate	UBERON:0005343	36.47	gold quality
minor salivary gland	UBERON:0001830	34.62	gold quality
mucosa of transverse colon	UBERON:0004991	33.90	gold quality
left adrenal gland cortex	UBERON:0035825	33.49	gold quality
primary visual cortex	UBERON:0002436	33.00	gold quality
adrenal gland	UBERON:0002369	32.93	gold quality
leukocyte	CL:0000738	32.51	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-CURD-89	no	27.58
E-ANND-3	no	3.07

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting HTN3, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-4804-3P	99.65	67.78	866
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-4519	99.48	66.10	859
HSA-MIR-4317	98.49	67.09	987

Functional genomics

ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 27)

• Killing of Candida albicans requires cellular uptake and energy metabolism (Histatin 5) (PMID:11816973)
• caused a loss of cell viability concomitant with a decrease in cellular volume as determined both by a classical candidacidal assay with exogenous Hst 5 and by using a genetically engineered C. albicans strain expressing Hst 5 (salivary histatin 5) (PMID:12183519)
• study provides evidence for a novel function for yeast Ssa1/2 heat-shock proteins as cell envelope binding receptors for histatin 5 that mediate fungicidal activity (PMID:12761219)
• results suggest that the genesis of histatin 3-related peptides, being under the principal action of trypsin-like activities, is probably not a random process but rather follows a sequential fragmentation pathway; cleavage sites are identified (PMID:15272024)
• A 20-residue-derived histatin 5 peptide preserves anticandidal activity, binds DNA, and has nuclease activity in the presence of copper and zinc ions. (PMID:17176059)
• Two cationic lysine residues at positions 2 and 10 in the P-113 peptide of Histatin 5 are important for transport into the cytosol of Candida albicans and that binding and transport are independent functional events. (PMID:17999963)
• key steps of its lethal mechanism against parasites (PMID:18230684)
• histatin 1 (Hst1) and histatin 2 (Hst2) as major wound-closing factors in human saliva (PMID:18650243)
• These findings suggest that histatin 3 may be involved in cell proliferation through the regulation of HSC70 and p27(Kip1) in oral cells. (PMID:19321452)
• Gene polymorphism at codon 23 of the histatin 3 gene was not associated with periodontitis in the Japanese population. Rather it appeared to be associated with resistance to periodontitis. (PMID:19753800)
• Hst 5 binding to beta-glucans on the cell wall of C. albicans is salt-sensitive. Uptake of Hst 5 shows dose-dependent translocation and intracellular accumulation precede vacuole expansion and propidium iodide uptake. (PMID:20487276)
• Histatin-5 is a likely transport molecule for toxic Ni(II) in human saliva.Its binding constant to nickel is five time higher than that of albumin. (PMID:21741339)
• analysis of histatin 5 uptake by Candida albicans utilizes polyamine transporters Dur3 and Dur31 proteins (PMID:22033918)
• Hst 5 may affect mitochondrial functions and cause oxidative stress; however, the ultimate cause of cell death is by volume dysregulation and ion imbalance triggered by osmotic stress. [Review] (PMID:24951439)
• High intensity of caries is associated with increased levels of some salivary components - sIgA, histatin-5 and lactoperoxidase. (PMID:24974109)
• Histatin 5 Salivary Complexes (PMID:26544073)
• These findings provide further evidence that histatin 3 may be involved in the regulation of cell proliferation, particularly during G1/S transition, via the ubiquitin-proteasome system of p27(Kip1) and HSC70. (PMID:26775844)
• The aim of this study was to achieve a molecular understanding and a physico-chemical insight of the obtained small angle X-ray scattering and to gain information of the conformational changes of Histatin 5 due to altering salt content, charge distribution, and net charge. (PMID:26914439)
• This aim of this study was to identify novel biomarkers using comparative global proteome analysis to improve the risk assessment for recurrent coronary events. Beta -defensin-128 and histatin-3 may be potential biomarkers whch may be used to improve risk the stratification for recurrent coronary events. (PMID:28627688)
• the availability of Cu during exposure of Candida albicans to histatin-5 (Hist-5) modulates its antifungal activity. (PMID:28763199)
• Since Pdr5p is homologous to Candida albicans CaCdr1p and CaCdr2p, data obtained might be extrapolated to these transporters, inferring that associating fluconazole and histatin-5 may be a useful tool to circumvent failure treatments of infections caused by Candida MDR strains. (PMID:29217144)
• Three AMP genes, histatin 3 (HTN3), alpha-defensin 4 (DEFA4) and lysozyme C (LYZ), presented different expression levels in periodontitis patients compared with healthy subjects. The relative expression level of DEFA4 appeared to be a protective factor against periodontitis. (PMID:29446150)
• we find the HTN3-MSANTD3 gene fusion to be a recurrent event in acinic cell carcinoma with prominent serous differentiation and an indolent clinical course (PMID:30520817)
• Salivary Histatin 1 and 2 Are Targeted to Mitochondria and Endoplasmic Reticulum in Human Cells. (PMID:32225006)
• Histatin 5 variant reduces Candida albicans biofilm viability and inhibits biofilm formation. (PMID:33596477)
• Association Between PD-L1 and Histatin1, 3 Expression in Advanced Head and Neck Squamous Cell Carcinoma. (PMID:35489730)
• Salivary Antimicrobial Peptide Histatin-5 Does Not Display Zn(II)-Dependent or -Independent Activity against Streptococci. (PMID:36826226)

Cross-species orthologs

0 orthologs

Paralogs (2): STATH (ENSG00000126549), HTN1 (ENSG00000126550)

Protein

Protein identifiers

Histatin-3 — P15516 (reviewed: P15516)

Alternative names: Basic histidine-rich protein, Histatin 3, Histidine-rich protein 3, PB

All UniProt accessions (2): P15516, X6RAH8

UniProt curated annotations — full annotation on UniProt →

Function. Histatins are cationic and histidine-rich peptides mainly found in the saliva of higher primates. They are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). Hsts can be divided into two major groups according to their biological functions: antimicrobial Hsts (e.g. Hst 5/HTN3) and cell-activating Hsts (e.g. Hst 1/HTN1, Hst 2/HTN1 and Hst 3/HTN3). Histatin 3 (Hst 3) is mostly involved in cell migration and wound healing in the oral cavity. Also stimulates cell proliferation after binding to heat shock protein HSC70, which enhances HSC70-CDKN1B complex formation and subsequent ubiquitination during G1/S transition. Also displays antifungal activity against pathogenic yeast Candida albicans, however with less effectiveness than Hst 5. Histatin 5 (Hst 5), a fragment of Hst 3, is the major histatin exhibiting antifungal and antibacterial activities. It is effective against pathogenic yeast C.albicans, C.neoformans, C.glabrata and S.cerevisiae as well as ESKAPE bacterial pathogens. Secreted Hst 5 mediates a multi-step intracellular mechanism of action against the pathogen. Depending on peptide concentration and pathogen, uptake across the membrane can occur through transporters, direct interaction with plasma membrane and/or receptor-mediated endocytosis. Binds C.albicans cell wall proteins SSA1 and SSA2 and glycans in an energy-independent manner, then is taken up by the cells through fungal polyamine transporters DUR3 and DUR31 in an energy-dependent manner. Internalized Hst5 is then targeted to the energized mitochondrion to induce reactive oxygen species (ROS) formation and subsequent release of intracellular non-lytic ATP which ultimately leads to fungal cell death. In addition, inhibits C.albicans TRK1 potassium-transporter which causes exudation of intracellular K(+), generating an osmotic imbalance leading to delayed membrane lysis and cell death. Also acts as a potent inhibitor of bacterial proteases such as Lys-gingipain and Arg-gingipain (rgpB) from P.gingivalis as well as human metalloproteases MMP2 and MMP9. The binding of metals such as zinc, copper or nickel with Hst 5 results in the protection of the enamel and antimicrobial activities such as the inhibition of microbial growth by decreasing the metal concentration, the formation of ROS commonly associated with redox-active metals, the induction of membrane disruption mediated by zinc binding. Also involved in coating oral surfaces in the form of a salivary film which reduces colonization by C.albicans on epithelial cell surfaces. Secreted Hst 5 can also internalize mammalian epithelial cells and target the mitochondria although it does not exert cytotoxic effects in these cells. In contrast with Hst 3, not able to promote wound healing in mammalian host cells.

Subunit / interactions. Homodimer. Interacts with HSPA8; the interaction increases binding affinity of HSPA8 to CDKN1B. Homodimer. Interacts with Candida albicans SSA1 and SSA2 proteins.

Subcellular location. Secreted Secreted. Mitochondrion.

Post-translational modifications. 24 proteolytic products are found in saliva.

Activity regulation. Metal binding such as zinc and copper increases antimicrobial activity. Conjugation with spermidine increases bactericidal efficiency against ESKAPE pathogens. Calcium inhibits antifungal activity against C.albicans at physiological concentrations by disrupting Hst 5 binding with C.albicans. Antifungal activity is also reduced by some salivary ions as Mg(2+), Cl(-) and CO(3-). Fe(3+) also decreases antifungal activity. Antifungal activity is also decreased at pH above 8 and below 4.

Domain organisation. The ATCUN motif mediates Cu(2+) binding and the Bis-His motif mediates Cu(1+) binding and are necessary for antifungal activity. The HExxH motif mediates binding to Zin(2+) which is important for the stabilization of a helical conformation in a hydrophobic environment, Hst5 dimerization and antifungal activity.

Polymorphism. There are two alleles of HTN3, HIS2(1) (shown here) and HIS2(2) that codes for the variant histatin-3-2 found primarily and in high frequencies in black populations.

Miscellaneous. The recommended nomenclature of salivary peptides follows published guidelines. In agreement with the authors, it has been decided to indicate the boundaries of the peptides according to the positions within the precursor, and not in the mature protein, as has formerly been proposed. Proteolytically cleaved by C. albicans SAP proteases with the decreased cleavage rate order of SAP2>SAP9>SAP3>SAP7>SAP4>SAP1>SAP8, leading to Hst 5 degradation and antifungal activity inactivation. Histatin 1, histatin 3 and histatin 5 constitute more than 80% of the total histatin concentration.

Similarity. Belongs to the histatin/statherin family.

RefSeq proteins (1): NP_000191* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR030773	Histatin/statherin	Family

UniProt features (56 total): peptide 25, mutagenesis site 15, site 5, short sequence motif 3, region of interest 2, sequence variant 2, signal peptide 1, chain 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P15516-F1	65.39	0.08

Functional residue map

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

Catalytic / active sites (5): 32 (important for candidacidal activity); 41 (important for candidacidal activity); 43 (not sulfated); 47 (not sulfated); 49 (not sulfated)

Ligand- & substrate-binding residues (1): 34

Mutagenesis-validated functional residues (15):

Position	Phenotype
22	decreased antifungal activity of his3-(20-43)-peptide against c.albicans in the presense of copper.
26–27	loss of antifungal activity of his3-(20-43)-peptide against c.albicans in the presense of copper.
30	decreased proteolysis of his3-(20-43)-peptide by c.albicans sap2 and sap9; when associated with r-36. increased antifung
31	no effect on candidacidal activity of his3-(20-43)-peptide.
32	increased proteolysis of his3-(20-43)-peptide by c.albicans sap9. no susceptibility to c.albicans sap2. decreased antifu
32	increased proteolysis of his3-(20-43)-peptide by c.albicans sap9. no susceptibility to c.albicans sap2. no change in ant
32	3-fold reduction in candidacidal activity of his3-(20-43)-peptide.
35	increased proteolysis of his3-(20-43)-peptide by c.albicans sap2 and sap9. increased antifungal activity of his3-(20-43)
35	decreased proteolysis of his3-(20-43)-peptide by c.albicans sap2; increased proteolysis by c.albicans sap9. increased an
36	no effect on candidacidal activity of his3-(20-43)-peptide.
36	decreased proteolysis of his3-(20-43)-peptide by c.albicans sap2 and sap9; when associated with r-30. increased antifung
37–38	no change in antifungal activity of his3-(20-43)-peptide against c.albicans in the presense of copper.
38	no effect on candidacidal activity of his3-(20-43)-peptide.
40	no effect on candidacidal activity of his3-(20-43)-peptide.
41	10-fold reduction in candidacidal activity of his3-(20-43)-peptide; when associated with e-32.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6803157	Antimicrobial peptides

MSigDB gene sets: 52 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_POSITIVE_REGULATION_OF_FIBROBLAST_PROLIFERATION, chr4q13, GOBP_WOUND_HEALING, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_REGULATION_OF_RESPONSE_TO_WOUNDING, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, MODULE_99, GOBP_HUMORAL_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_WOUNDING, GOBP_RESPONSE_TO_FUNGUS, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_CELL_KILLING

GO Biological Process (8): biomineral tissue development (GO:0031214), killing of cells of another organism (GO:0031640), defense response to bacterium (GO:0042742), innate immune response (GO:0045087), positive regulation of fibroblast proliferation (GO:0048146), defense response to fungus (GO:0050832), positive regulation of wound healing (GO:0090303), immune system process (GO:0002376)

GO Molecular Function (3): metal ion binding (GO:0046872), molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), mitochondrion (GO:0005739)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response	2
binding	2
tissue development	1
animal organ development	1
cell killing	1
disruption of cell in another organism	1
response to bacterium	1
immune response	1
defense response to symbiont	1
positive regulation of cell population proliferation	1
fibroblast proliferation	1
regulation of fibroblast proliferation	1
response to fungus	1
wound healing	1
regulation of wound healing	1
positive regulation of response to wounding	1
biological_process	1
cation binding	1
molecular_function	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

396 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HTN3	STATH	P02808	919
HTN3	TRIM21	P19474	892
HTN3	DENND2B	P78523	876
HTN3	MUC7	Q8TAX7	804
HTN3	CAMP	P49913	700
HTN3	MUC5B	Q9HC84	674
HTN3	HSPA4	P34932	671
HTN3	LTF	P02788	658
HTN3	HSP90AA1	P07900	650
HTN3	HSP90AB1	P08238	646
HTN3	MSANTD3	Q96H12	621
HTN3	DEFB103A	P81534	620
HTN3	RO60	P10155	588
HTN3	DEFB4A	O15263	584
HTN3	ALB	P02768	557

IntAct

13 interactions, top by confidence:

A	B	Type	Score
HTN3	DNAJB11	psi-mi:“MI:0915”(physical association)	0.560
rgpB	HTN3	psi-mi:“MI:0194”(cleavage reaction)	0.440
HTN3	H1-1	psi-mi:“MI:0915”(physical association)	0.400
HTN3	MUC7	psi-mi:“MI:0915”(physical association)	0.400
DNAJB11	HTN3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (43): HSPA8 (Affinity Capture-Western), HTN3 (Affinity Capture-Western), HSPA8 (Reconstituted Complex), HSP70 (Two-hybrid), HSP70 (Affinity Capture-MS), HSP70 (Affinity Capture-Western), HTN3 (Two-hybrid), SSA2 (Two-hybrid), HSP70 (Two-hybrid), SSA2 (Reconstituted Complex), HSP70 (Reconstituted Complex), MUC7 (Affinity Capture-MS), ZC3H3 (Affinity Capture-MS), PIK3AP1 (Affinity Capture-MS), TSHZ1 (Affinity Capture-MS)

ESM2 similar proteins: A0A059U8Y9, A0A172M477, B3SVF0, B3SVF1, B5A9T1, B9UIY3, C0HL59, C6KGD8, D2XUU7, D2XUU8, D2XUV1, D5L5Q7, D9U2B8, F6K5S6, F8J4S0, G1FE62, G8YYA6, O18417, O42413, P02808, P07507, P08493, P08494, P0CI89, P0CI90, P0CJ04, P0DME2, P0DME4, P14213, P14214, P15450, P15515, P15516, P19788, P36193, P47841, Q19408, Q3V3I5, Q5FVX5, Q5RDP6

Diamond homologs: P02808, P15515, P15516, P34084

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

435 predictions. Top by Δscore:

Variant	Effect	Δscore
4:70028513:AAAG:A	donor_gain	1.0000
4:70031976:A:AG	acceptor_gain	1.0000
4:70031976:AAG:A	acceptor_gain	1.0000
4:70031976:AAGG:A	acceptor_gain	1.0000
4:70031977:A:G	acceptor_gain	1.0000
4:70032350:T:TG	donor_gain	1.0000
4:70028512:AAAAG:A	donor_loss	0.9900
4:70028513:AAAGG:A	donor_loss	0.9900
4:70028515:AGGTA:A	donor_loss	0.9900
4:70028518:T:A	donor_loss	0.9900
4:70028525:TTC:T	donor_gain	0.9900
4:70030788:GACT:G	donor_gain	0.9900
4:70030790:CT:C	donor_gain	0.9900
4:70030792:G:GG	donor_gain	0.9900
4:70032075:T:G	acceptor_gain	0.9900
4:70032076:A:AG	acceptor_gain	0.9900
4:70032077:G:GG	acceptor_gain	0.9900
4:70032317:GAA:G	donor_gain	0.9900
4:70032319:A:AG	donor_gain	0.9900
4:70032346:GAGCT:G	donor_gain	0.9900
4:70032348:GCT:G	donor_gain	0.9900
4:70032350:T:G	donor_gain	0.9900
4:70033162:TGCA:T	acceptor_loss	0.9900
4:70033163:GCA:G	acceptor_loss	0.9900
4:70033164:CAGGA:C	acceptor_loss	0.9900
4:70033165:A:AG	acceptor_gain	0.9900
4:70033165:A:G	acceptor_loss	0.9900
4:70033166:G:GC	acceptor_loss	0.9900
4:70033166:G:GG	acceptor_gain	0.9900
4:70033249:TGGAG:T	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000049861 (4:70030743 G>A,T), RS1000103488 (4:70030487 C>G,T), RS10007523 (4:70029260 C>A,T), RS1001055432 (4:70029645 G>A,C), RS1001211885 (4:70036763 G>C,T), RS1001264262 (4:70036545 C>T), RS1001720257 (4:70031918 A>G), RS1002219646 (4:70035551 A>C), RS10024278 (4:70035930 T>A), RS1003241437 (4:70027934 G>A), RS1003293934 (4:70027667 C>A,G,T), RS1003392332 (4:70033054 G>A), RS1003857247 (4:70032831 T>C), RS1004164308 (4:70034974 A>T), RS1004516054 (4:70035138 A>G)

Disease associations

OMIM: gene MIM:142702 | 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)

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	increases reaction, affects binding	1
Arsenic Trioxide	increases expression	1
Ascorbic Acid	affects cotreatment, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Copper	affects cotreatment, increases abundance	1
Cysteine	affects cotreatment, increases abundance	1
Hydrogen Peroxide	affects cotreatment, increases abundance	1
Nickel	affects binding	1
Tetrachlorodibenzodioxin	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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