RELT

Summary

RELT (RELT TNF receptor, HGNC:13764) is a protein-coding gene on chromosome 11q13.4, encoding Tumor necrosis factor receptor superfamily member 19L (Q969Z4). May play a role in apoptosis.

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported.

Source: NCBI Gene 84957 — RefSeq curated summary.

At a glance

• Gene–disease (curated): amelogenesis imperfecta, type 3C (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 104 total — 4 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 5
• MANE Select transcript: NM_152222

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13764
Approved symbol	RELT
Name	RELT TNF receptor
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14993
Ensembl gene	ENSG00000054967
Ensembl biotype	protein_coding
OMIM	611211
Entrez	84957

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 15 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000064780, ENST00000393580, ENST00000537771, ENST00000539134, ENST00000544075, ENST00000545687, ENST00000545886, ENST00000857845, ENST00000857846, ENST00000857847, ENST00000925218, ENST00000925219, ENST00000940932, ENST00000940933, ENST00000940934, ENST00000940935, ENST00000940936, ENST00000940937, ENST00000940938

RefSeq mRNA: 8 — MANE Select: NM_152222 NM_001425248, NM_001425249, NM_001425250, NM_001425251, NM_001425252, NM_001425253, NM_032871, NM_152222

CCDS: CCDS8222

Canonical transcript exons

ENST00000064780 — 11 exons

Exon	Start	End
ENSE00000739864	73392211	73392468
ENSE00000739892	73391144	73391223
ENSE00000739915	73390755	73390921
ENSE00000739940	73390551	73390625
ENSE00001154960	73389112	73389181
ENSE00002206329	73376399	73376499
ENSE00002229375	73395444	73397474
ENSE00003486583	73394477	73394734
ENSE00003615140	73394236	73394317
ENSE00003644146	73393837	73393917
ENSE00003653056	73395087	73395285

Expression profiles

Bgee: expression breadth ubiquitous, 191 present calls, max score 93.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.5233 / max 1627.3977, expressed in 1748 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115799	10.5490	1665
115800	8.9742	1311

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	93.90	gold quality
leukocyte	CL:0000738	93.49	gold quality
granulocyte	CL:0000094	92.99	gold quality
blood	UBERON:0000178	91.30	gold quality
bone marrow cell	CL:0002092	90.23	gold quality
spleen	UBERON:0002106	88.46	gold quality
gastrocnemius	UBERON:0001388	87.60	gold quality
bone marrow	UBERON:0002371	87.19	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.07	gold quality
muscle of leg	UBERON:0001383	85.60	gold quality
kidney epithelium	UBERON:0004819	85.59	gold quality
vermiform appendix	UBERON:0001154	85.20	gold quality
lymph node	UBERON:0000029	84.07	gold quality
caecum	UBERON:0001153	84.01	gold quality
upper lobe of left lung	UBERON:0008952	83.99	gold quality
oocyte	CL:0000023	83.32	gold quality
secondary oocyte	CL:0000655	82.92	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	82.54	silver quality
upper lobe of lung	UBERON:0008948	82.30	gold quality
pons	UBERON:0000988	82.27	silver quality
heart right ventricle	UBERON:0002080	82.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.96	gold quality
epithelial cell of pancreas	CL:0000083	81.81	gold quality
substantia nigra pars reticulata	UBERON:0001966	81.36	silver quality
vena cava	UBERON:0004087	81.32	silver quality
skeletal muscle tissue	UBERON:0001134	81.18	gold quality
upper arm skin	UBERON:0004263	81.11	gold quality
subthalamic nucleus	UBERON:0001906	80.42	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	80.24	silver quality
right lung	UBERON:0002167	79.84	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.45
E-CURD-11	no	30.41
E-MTAB-5061	no	3.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

101 targeting RELT, 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-5193	100.00	67.26	1744
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107

Literature-anchored findings (GeneRIF, showing 5)

• Receptor expressed in lymphoid tissue (RELT) and its novel homologues RELL1 and RELL2 co-localize with one another at the plasma membrane. (PMID:16389068)
• report that overexpression of RELT or its homologues RELL1 and RELL2 in HEK 293 epithelial cells results in cell death with morphological characteristics consistent with the activation of an apoptotic pathway. (PMID:19969290)
• Collectively, this study provides more insights into RELT expression, RELT family member function, and the mechanism of RELT-induced death. (PMID:28688764)
• New missense variants in RELT causing hypomineralised amelogenesis imperfecta. (PMID:32052416)
• RELT promotes the growth of esophageal squamous cell carcinoma by activating the NF-kappaB pathway. (PMID:34121605)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	relt	ENSDARG00000099724
mus_musculus	Relt	ENSMUSG00000008318
rattus_norvegicus	Relt	ENSRNOG00000025075

Paralogs (21): FAS (ENSG00000026103), TNFRSF1B (ENSG00000028137), TNFRSF9 (ENSG00000049249), NGFR (ENSG00000064300), TNFRSF1A (ENSG00000067182), CD40 (ENSG00000101017), TNFRSF10A (ENSG00000104689), LTBR (ENSG00000111321), TNFRSF10B (ENSG00000120889), TNFRSF8 (ENSG00000120949), CD27 (ENSG00000139193), TNFRSF11A (ENSG00000141655), TNFRSF21 (ENSG00000146072), TNFRSF14 (ENSG00000157873), TNFRSF11B (ENSG00000164761), TNFRSF10D (ENSG00000173530), TNFRSF10C (ENSG00000173535), TNFRSF4 (ENSG00000186827), TNFRSF18 (ENSG00000186891), TNFRSF25 (ENSG00000215788), TNFRSF6B (ENSG00000243509)

Protein

Protein identifiers

Tumor necrosis factor receptor superfamily member 19L — Q969Z4 (reviewed: Q969Z4)

Alternative names: Receptor expressed in lymphoid tissues

All UniProt accessions (3): F5GYS9, F5H2T5, Q969Z4

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in apoptosis. Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed. Involved in dental enamel formation.

Subunit / interactions. Interacts with TRAF1. Interacts with RELL1, RELL2 and OXSR1. Interacts with PLSCR1. Interacts with STK39.

Subcellular location. Cell membrane. Cytoplasm. Perinuclear region.

Tissue specificity. Spleen, lymph node, brain, breast and peripheral blood leukocytes (at protein level). Expressed highly in bone marrow and fetal liver. Very low levels in skeletal muscle, testis and colon. Not detected in kidney and pancreas.

Post-translational modifications. Phosphorylated in vitro by OXSR1. Phosphorylated by STK39.

Disease relevance. Amelogenesis imperfecta 3C (AI3C) [MIM:618386] An autosomal recessive form of amelogenesis imperfecta, a defect of enamel formation. AI3C is characterized by generalized enamel hypocalcification affecting primary and secondary dentition. The surface of the enamel is rough and often stained. After eruption, the occlusal enamel on the molars disappears due to attrition, leaving a ring of intact enamel remaining on the sides. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the RELT family.

RefSeq proteins (8): NP_001412177, NP_001412178, NP_001412179, NP_001412180, NP_001412181, NP_001412182, NP_116260, NP_689408* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022248	TNF_rcpt_RELT	Family
IPR022333	TNFR_19-like	Family
IPR034048	TNFRSF19L_N	Domain

Pfam: PF12606

UniProt features (20 total): sequence conflict 3, disulfide bond 2, sequence variant 2, topological domain 2, region of interest 2, signal peptide 1, chain 1, modified residue 1, glycosylation site 1, mutagenesis site 1, transmembrane region 1, repeat 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969Z4-F1	63.38	0.19

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): 223

Disulfide bonds (2): 51–65, 71–90

Glycosylation sites (1): 149

Mutagenesis-validated functional residues (1):

Position	Phenotype
350	loss of interaction with stk39.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 119 (showing top): E2F_Q4_01, chr11q13, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, SOX9_B1, TGANTCA_AP1_C, ZEILSTRA_CD44_TARGETS_UP, GOBP_AMELOGENESIS, GOBP_ODONTOGENESIS_OF_DENTIN_CONTAINING_TOOTH, SOX5_01, CUI_TCF21_TARGETS_2_UP, GOBP_ODONTOGENESIS, E2F_Q3_01, ERR1_Q2, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, SKIL_TARGET_GENES

GO Biological Process (2): apoptotic process (GO:0006915), amelogenesis (GO:0097186)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (7): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), plasma membrane (GO:0005886), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
nuclear lumen	2
cytoplasm	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
odontogenesis of dentin-containing tooth	1
anatomical structure formation involved in morphogenesis	1
binding	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1052 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RELT	OXSR1	O95747	885
RELT	TNFRSF19	Q9NS68	722
RELT	TRAF1	Q13077	686
RELT	LTBR	P36941	602
RELT	TNFRSF4	P43489	576
RELT	SERAC1	Q96JX3	555
RELT	RELL1	Q8IUW5	540
RELT	CLBA1	Q96F83	504
RELT	TNFRSF1A	P19438	492
RELT	FASLG	P48023	461
RELT	ASB9	Q96DX5	447
RELT	CCDC159	P0C7I6	429
RELT	WDR72	Q3MJ13	409
RELT	MMP20	O60882	407
RELT	VWA5B2	Q8N398	404

IntAct

40 interactions, top by confidence:

A	B	Type	Score
RELL2	OXSR1	psi-mi:“MI:0914”(association)	0.830
RELT	OXSR1	psi-mi:“MI:0914”(association)	0.640
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
MAS1	POTEF	psi-mi:“MI:0914”(association)	0.530
TGFBR2	PIK3R2	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
TPCN2	AP3B1	psi-mi:“MI:0914”(association)	0.530
IL4R	RHOBTB3	psi-mi:“MI:0914”(association)	0.530
RUSF1	MAP1LC3B2	psi-mi:“MI:0914”(association)	0.350
TPCN2	DDX11L8	psi-mi:“MI:0914”(association)	0.350
RELT	ACOT7	psi-mi:“MI:0914”(association)	0.350
HEPACAM2	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
IL4R	DHRS3	psi-mi:“MI:0914”(association)	0.350
IL17RD	PTPRD	psi-mi:“MI:0914”(association)	0.350
TTMP	TMEM223	psi-mi:“MI:0914”(association)	0.350
RUSF1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
RNF149	CCDC85C	psi-mi:“MI:0914”(association)	0.350
NPTN	RTL8C	psi-mi:“MI:0914”(association)	0.350
NRSN1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
EDAR	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
PCDHGC4		psi-mi:“MI:0914”(association)	0.350
KIR2DL4	GPR89A	psi-mi:“MI:0914”(association)	0.350
KCNE3	PIK3R2	psi-mi:“MI:0914”(association)	0.350
HEPACAM2	PIK3R2	psi-mi:“MI:0914”(association)	0.350
TNFRSF10A	SDCBP	psi-mi:“MI:0914”(association)	0.350

BioGRID (88): RELT (Affinity Capture-RNA), RELT (Affinity Capture-RNA), RELT (Affinity Capture-RNA), RELT (Affinity Capture-MS), STK39 (Affinity Capture-MS), OXSR1 (Affinity Capture-MS), PIK3R3 (Affinity Capture-MS), RAB11FIP1 (Affinity Capture-MS), ACOT7 (Affinity Capture-MS), RELT (Affinity Capture-MS), STK39 (Affinity Capture-MS), OXSR1 (Affinity Capture-MS), RELT (Affinity Capture-MS), RELT (Affinity Capture-MS), RELT (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GW64, A0A5F4BST2, A0PJX4, A8MVS5, A8MWV9, B0FP48, E5RIL1, E9PGG2, O14836, O60320, O95998, P09564, Q01113, Q01114, Q13477, Q2KI80, Q2T9R2, Q3TS39, Q3UPR0, Q3URD2, Q4V9L6, Q5FVJ4, Q5M869, Q6A044, Q6UWJ8, Q75VT8, Q864V4, Q8BRJ3, Q8BX43, Q8C503, Q8IVY1, Q8K5A9, Q8N112, Q8NC24, Q8NDY8, Q8QZT4, Q8R138, Q969Z4, Q9BUF7, Q9CQM1

Diamond homologs: A5D7R1, D3ZF92, O00300, O08712, O08727, O35305, O73559, O75509, O95407, P0DSV7, P0DSV8, P0DTN0, P20333, P25119, P25942, P25943, P68636, P68637, Q3LRP1, Q80WY6, Q8BX43, Q8SQ34, Q92956, Q969Z4, Q9EPU5, Q9N092, Q9Y6Q6, Q08DP3, Q2KI80, Q5F3A4, Q5FVJ4, Q8BRJ3, Q8IUW5, Q8K2J7, Q8NC24, Q9HAV5, Q9NS68, Q9JLL3, Q8BX35, Q90VY2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	4
Uncertain significance	68
Likely benign	10
Benign	7

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
625368	NM_152222.2(RELT):c.1169_1170del (p.Pro390fs)	Pathogenic
625369	NM_152222.2(RELT):c.1265G>C (p.Arg422Pro)	Pathogenic
625370	NM_152222.2(RELT):c.121-2A>G	Pathogenic
694316	NM_152222.2(RELT):c.164C>T (p.Thr55Ile)	Pathogenic
2573118	NM_152222.2(RELT):c.521T>G (p.Leu174Arg)	Likely pathogenic
2573131	NM_152222.2(RELT):c.260A>T (p.Asp87Val)	Likely pathogenic
2577927	NM_152222.2(RELT):c.120+1G>T	Likely pathogenic
3780543	NM_152222.2(RELT):c.862dup (p.Ala288fs)	Likely pathogenic

SpliceAI

1938 predictions. Top by Δscore:

Variant	Effect	Δscore
11:73392435:G:GT	donor_gain	1.0000
11:73393913:GAAAG:G	donor_gain	1.0000
11:73393915:AAG:A	donor_loss	1.0000
11:73393917:GG:G	donor_loss	1.0000
11:73393918:G:GA	donor_loss	1.0000
11:73393919:T:G	donor_loss	1.0000
11:73394235:GA:G	acceptor_gain	1.0000
11:73395082:CACA:C	acceptor_loss	1.0000
11:73395084:CAGG:C	acceptor_loss	1.0000
11:73395085:A:AG	acceptor_gain	1.0000
11:73395085:AG:A	acceptor_gain	1.0000
11:73395085:AGGT:A	acceptor_loss	1.0000
11:73395086:G:GC	acceptor_gain	1.0000
11:73395086:GG:G	acceptor_gain	1.0000
11:73395086:GGTTC:G	acceptor_gain	1.0000
11:73376495:GCCAG:G	donor_gain	0.9900
11:73376496:CCAGG:C	donor_loss	0.9900
11:73376497:CAGG:C	donor_loss	0.9900
11:73376500:GT:G	donor_loss	0.9900
11:73376501:T:G	donor_loss	0.9900
11:73390531:A:AG	acceptor_gain	0.9900
11:73390540:T:A	acceptor_gain	0.9900
11:73390550:GCT:G	acceptor_gain	0.9900
11:73392407:G:GT	donor_gain	0.9900
11:73392454:G:GT	donor_gain	0.9900
11:73392466:GTG:G	donor_gain	0.9900
11:73393834:CA:C	acceptor_loss	0.9900
11:73393836:G:GA	acceptor_loss	0.9900
11:73393836:GGA:G	acceptor_gain	0.9900
11:73393918:G:GG	donor_gain	0.9900

AlphaMissense

2739 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:73395088:T:C	F350L	0.999
11:73395089:T:C	F350S	0.999
11:73395090:C:A	F350L	0.999
11:73395090:C:G	F350L	0.999
11:73393903:T:C	I231T	0.997
11:73392357:T:C	F172L	0.996
11:73392359:C:A	F172L	0.996
11:73392359:C:G	F172L	0.996
11:73392360:T:C	C173R	0.996
11:73393903:T:A	I231N	0.996
11:73395089:T:G	F350C	0.996
11:73393903:T:G	I231S	0.995
11:73392349:T:A	V169D	0.993
11:73392369:G:A	G176R	0.993
11:73392369:G:C	G176R	0.993
11:73394240:T:A	N237K	0.993
11:73394240:T:G	N237K	0.993
11:73394260:T:C	L244P	0.993
11:73394595:T:A	W303R	0.993
11:73394595:T:C	W303R	0.993
11:73394597:G:C	W303C	0.993
11:73394597:G:T	W303C	0.993
11:73395088:T:G	F350V	0.993
11:73393882:T:A	I224N	0.992
11:73393891:T:A	L227Q	0.992
11:73394731:G:T	G348V	0.992
11:73392378:G:C	G179R	0.990
11:73394571:T:C	C295R	0.990
11:73394580:T:C	C298R	0.990
11:73394730:G:C	G348R	0.990

dbSNP variants (sampled 300 via entrez): RS1000014553 (11:73388184 ACT>A), RS1000071005 (11:73388954 T>C), RS1000490926 (11:73389020 T>C), RS1000559906 (11:73393353 C>G,T), RS1000633559 (11:73393024 G>T), RS1000882735 (11:73382257 G>C), RS1000895035 (11:73377610 C>G), RS1000985377 (11:73381777 G>C), RS1001030245 (11:73376239 A>C,G), RS1001284398 (11:73376437 C>A,G,T), RS1001314756 (11:73375202 G>A), RS1001414849 (11:73380276 C>T), RS1001466800 (11:73380111 GT>G), RS1001501418 (11:73376643 C>A,T), RS1001528507 (11:73387864 C>T)

Disease associations

OMIM: gene MIM:611211 | disease phenotypes: MIM:104500, MIM:618386

GenCC curated gene-disease

Disease	Classification	Inheritance
amelogenesis imperfecta, type 3C	Strong	Autosomal recessive
amelogenesis imperfecta type 1	Supportive	Autosomal dominant
schizophrenia	No Known Disease Relationship	Unknown

Mondo (4): amelogenesis imperfecta (MONDO:0019507), amelogenesis imperfecta, type 3C (MONDO:0032717), schizophrenia (MONDO:0005090), amelogenesis imperfecta type 1 (MONDO:0015047)

Orphanet (1): Amelogenesis imperfecta (Orphanet:88661)

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000705	Amelogenesis imperfecta
HP:0006286	Yellow-brown discoloration of the teeth
HP:0009102	Anterior open-bite malocclusion
HP:0011084	Hypocalcification of dental enamel

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006585_2540	Blood protein levels	2.000000e-33
GCST010002_243	Refractive error	1.000000e-13

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D000567	Amelogenesis Imperfecta	C07.650.800.295.250; C07.793.700.295.250; C16.131.850.800.295.250

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: catalytic receptor — Tumour necrosis factor (TNF) receptor family

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects expression, increases abundance	3
Benzo(a)pyrene	decreases methylation, increases expression	3
Estradiol	increases expression	2
Nickel	increases expression	2
Aflatoxin B1	increases expression, increases methylation	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
afuresertib	decreases expression	1
FR900359	increases phosphorylation	1
beauvericin	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
licochalcone B	increases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Cadmium	increases expression	1
Doxorubicin	decreases expression	1
Ozone	affects expression, increases abundance	1
Dronabinol	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436	PHASE4	COMPLETED	Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008	PHASE4	COMPLETED	Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety