TSHZ3

Summary

TSHZ3 (teashirt zinc finger homeobox 3, HGNC:30700) is a protein-coding gene on chromosome 19q12, encoding Teashirt homolog 3 (Q63HK5). Transcriptional regulator involved in developmental processes.

This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer’s disease in human patients.

Source: NCBI Gene 57616 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital anomaly of kidney and urinary tract (Moderate, GenCC) — +1 more curated relationship
• GWAS associations: 28
• Clinical variants (ClinVar): 204 total — 1 likely-pathogenic
• MANE Select transcript: NM_020856

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30700
Approved symbol	TSHZ3
Name	teashirt zinc finger homeobox 3
Location	19q12
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1474, TSH3
Ensembl gene	ENSG00000121297
Ensembl biotype	protein_coding
OMIM	614119
Entrez	57616

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000240587, ENST00000558569, ENST00000560707, ENST00000651361

RefSeq mRNA: 1 — MANE Select: NM_020856 NM_020856

CCDS: CCDS12421

Canonical transcript exons

ENST00000240587 — 2 exons

Exon	Start	End
ENSE00000821594	31274945	31279752
ENSE00001244647	31349180	31349436

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 97.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.5115 / max 145.5904, expressed in 1156 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180378	1.7449	923
180375	1.2610	602
180377	0.2573	132
180376	0.2483	128

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	97.17	gold quality
right ovary	UBERON:0002118	90.75	gold quality
left ovary	UBERON:0002119	90.40	gold quality
ovary	UBERON:0000992	89.30	gold quality
smooth muscle tissue	UBERON:0001135	88.25	gold quality
cauda epididymis	UBERON:0004360	88.15	gold quality
body of uterus	UBERON:0009853	87.58	gold quality
myometrium	UBERON:0001296	87.46	gold quality
endocervix	UBERON:0000458	86.66	gold quality
uterus	UBERON:0000995	86.41	gold quality
endometrium	UBERON:0001295	86.23	gold quality
left uterine tube	UBERON:0001303	85.26	gold quality
saphenous vein	UBERON:0007318	85.14	gold quality
muscle layer of sigmoid colon	UBERON:0035805	84.90	gold quality
endothelial cell	CL:0000115	84.18	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	84.16	gold quality
lower esophagus muscularis layer	UBERON:0035833	83.95	gold quality
lower esophagus	UBERON:0013473	83.94	gold quality
female reproductive system	UBERON:0000474	83.88	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.56	gold quality
mucosa of stomach	UBERON:0001199	82.46	gold quality
prostate gland	UBERON:0002367	82.41	gold quality
urinary bladder	UBERON:0001255	82.21	gold quality
uterine cervix	UBERON:0000002	81.86	gold quality
primary visual cortex	UBERON:0002436	81.78	gold quality
gall bladder	UBERON:0002110	81.49	gold quality
tibialis anterior	UBERON:0001385	81.45	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.34	gold quality
ectocervix	UBERON:0012249	81.22	gold quality
tibial nerve	UBERON:0001323	80.59	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.68
E-MTAB-9543	no	1.22

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

6 targets.

Target	Regulation
BMP4
CASP4	Repression
MYOCD
MYOD1
MYOG
SHH

miRNA regulators (miRDB)

249 targeting TSHZ3, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-568	99.98	69.86	2084
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-607	99.97	73.62	5593

Literature-anchored findings (GeneRIF, showing 8)

• Mutations in TSHZ2 and TSHZ3 are not a major cause of pelvi-ureteric junction obstruction, at least in Albanian and Macedonian populations. (PMID:19745106)
• TSHZ3 gene promoter was found to be methylated in all the breast/prostate cancer cell lines and some of the breast cancer clinical specimens while the TSHZ2 gene promoter was unmethylated except for the MDA-MB-231 breast cancer cell line. (PMID:21423795)
• The dynamic expression of Sox9 and the interaction between TSHZ3, SOX9 and MYOCD provide a mechanism that regulates the pace the myogenic program in the ureter. (PMID:23671695)
• Gli3 and Teashirt3 might play an important role in the normal development of the ureter. (PMID:27279789)
• Gene product expressions of SHH, TBX18 and TSHZ3 are statistically higher in patients with UPJ obstruction, when compared with control group. The explanation may be the reactivation of the processes, which had shown their effects in the embryological period, due to the chronic inflammation and long-term micro-trauma created by the disease (PMID:27381532)
• strong experimental evidence for a causal relationship between Tshz3 heterozygosity, functional defaults in cortical projection neurons, and autism spectrum disorder (PMID:27668656)
• that miR-338-5p has a function in promoting glioma cell invasion by targeting TSHZ3 suppression on MMP2 (PMID:28780604)
• The study reveals a crucial postnatal role of TSHZ3 in the development and functioning of the corticostriatal circuitry and provides evidence that dysfunction in these circuits might be determinant for autism spectrum disorder pathogenesis. (PMID:31060802)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tshz3b	ENSDARG00000103361
mus_musculus	Tshz3	ENSMUSG00000021217
rattus_norvegicus	Tshz3	ENSRNOG00000013938
drosophila_melanogaster	tsh	FBGN0003866
drosophila_melanogaster	tio	FBGN0028979

Paralogs (2): TSHZ1 (ENSG00000179981), TSHZ2 (ENSG00000182463)

Protein

Protein identifiers

Teashirt homolog 3 — Q63HK5 (reviewed: Q63HK5)

Alternative names: Zinc finger protein 537

All UniProt accessions (2): Q63HK5, U3KQ78

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional regulator involved in developmental processes. Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter. Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation.

Subunit / interactions. Interacts (via homeobox domain) with APBB1 (via PID domain 1). Interacts (via N-terminus) with HDAC1 and HDAC2; the interaction is direct. Found in a trimeric complex with APBB1 and HDAC1; the interaction between HDAC1 and APBB1 is mediated by TSHZ3.

Subcellular location. Nucleus. Cell projection. Growth cone.

Tissue specificity. Expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease. Expressed in the fetal neocortex.

Disease relevance. TSHZ3 haploinsufficiency due to proximal chromosome 19q13.11 deletions causes a neurodevelopmental disorder characterized by developmental delay, absent or delayed speech, intellectual disability, and autistic features. Some patients may have reanal tract abnormalities.

Similarity. Belongs to the teashirt C2H2-type zinc-finger protein family.

RefSeq proteins (1): NP_065907* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR013087	Znf_C2H2_type	Domain
IPR027008	Teashirt_fam	Family
IPR058631	TSHZ1-3_homeodomain	Domain

Pfam: PF13912, PF26094

UniProt features (32 total): region of interest 7, compositionally biased region 6, zinc finger region 5, strand 3, sequence variant 2, helix 2, chain 1, coiled-coil region 1, modified residue 1, mutagenesis site 1, sequence conflict 1, turn 1, DNA-binding region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DMI	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q63HK5-F1	55.32	0.09

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): 682

Mutagenesis-validated functional residues (1):

Position	Phenotype
953–955	does not inhibit interaction with apbb1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 229 (showing top): GCACCTT_MIR18A_MIR18B, GOBP_POSITIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC, RRAGTTGT_UNKNOWN, TAATAAT_MIR126, GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, HNF3ALPHA_Q6, GOBP_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC, PEREZ_TP63_TARGETS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_REGULATION_OF_RESPIRATORY_SYSTEM_PROCESS, GOBP_RESPIRATORY_SYSTEM_PROCESS, LHX3_01, ACTGCAG_MIR173P, CHANDRAN_METASTASIS_DN, GOBP_CELL_CELL_SIGNALING

GO Biological Process (6): regulation of respiratory gaseous exchange by nervous system process (GO:0002087), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of synaptic transmission, glutamatergic (GO:0051968), long-term synaptic potentiation (GO:0060291), regulation of gene expression (GO:0010468)

GO Molecular Function (6): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), chromatin binding (GO:0003682), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), plasma membrane (GO:0005886), growth cone (GO:0030426), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of DNA-templated transcription	2
positive regulation of synaptic transmission	2
binding	2
respiratory gaseous exchange by respiratory system	1
regulation of respiratory system process	1
nervous system process	1
transcription by RNA polymerase II	1
DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
synaptic transmission, glutamatergic	1
regulation of synaptic transmission, glutamatergic	1
regulation of synaptic plasticity	1
gene expression	1
regulation of macromolecule biosynthetic process	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
transition metal ion binding	1
cation binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
membrane	1
cell periphery	1
site of polarized growth	1
distal axon	1

Protein interactions and networks

STRING

1180 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TSHZ3	SMARCE1	Q969G3	544
TSHZ3	MEIS1	O00470	501
TSHZ3	ZNF774	Q6NX45	500
TSHZ3	FEZF2	Q8TBJ5	490
TSHZ3	LGALS4	P56470	483
TSHZ3	ZNF385B	Q569K4	469
TSHZ3	CBY1	Q9Y3M2	467
TSHZ3	ZNF8	P17098	464
TSHZ3	ZNF827	Q17R98	457
TSHZ3	ZNF548	Q8NEK5	456
TSHZ3	ZNF517	Q6ZMY9	452
TSHZ3	ZNF778	Q96MU6	451
TSHZ3	ZNF559	Q9BR84	446
TSHZ3	ZNF18	P17022	437
TSHZ3	EXD1	Q8NHP7	433

IntAct

146 interactions, top by confidence:

A	B	Type	Score
TSHZ3	TFIP11	psi-mi:“MI:0915”(physical association)	0.780
TFIP11	TSHZ3	psi-mi:“MI:0915”(physical association)	0.780
CTBP2	TSHZ3	psi-mi:“MI:0915”(physical association)	0.720
TRIM54	TSHZ3	psi-mi:“MI:0915”(physical association)	0.720
TSHZ3	TRIM54	psi-mi:“MI:0915”(physical association)	0.720
IL13RA2	CHEK1	psi-mi:“MI:0914”(association)	0.640
TSHZ3	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
TSHZ3	TRIM23	psi-mi:“MI:0915”(physical association)	0.560
TSHZ3	TRAF2	psi-mi:“MI:0915”(physical association)	0.560
TSHZ3	CTBP1	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	TSHZ3	psi-mi:“MI:0915”(physical association)	0.560
TSHZ3	KRT40	psi-mi:“MI:0915”(physical association)	0.560
TSHZ3	TAX1BP1	psi-mi:“MI:0915”(physical association)	0.560
KASH5	TSHZ3	psi-mi:“MI:0915”(physical association)	0.560
CEP70	TSHZ3	psi-mi:“MI:0915”(physical association)	0.560
TSHZ3	CEP63	psi-mi:“MI:0915”(physical association)	0.560
SPAG5	TSHZ3	psi-mi:“MI:0915”(physical association)	0.560
MAD1L1	TSHZ3	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	TSHZ3	psi-mi:“MI:0915”(physical association)	0.560
TRIM23	TSHZ3	psi-mi:“MI:0915”(physical association)	0.560
CTBP1	TSHZ3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (105): TSHZ3 (Two-hybrid), TSHZ3 (Two-hybrid), TSHZ3 (Two-hybrid), TSHZ3 (Two-hybrid), TSHZ3 (Two-hybrid), TSHZ3 (Two-hybrid), TSHZ3 (Two-hybrid), TSHZ3 (Two-hybrid), TSHZ3 (Two-hybrid), TSHZ3 (Two-hybrid), TSHZ3 (Two-hybrid), CEP63 (Two-hybrid), CEP70 (Two-hybrid), KRT40 (Two-hybrid), CCDC155 (Two-hybrid)

ESM2 similar proteins: A0JME2, A2AUY4, D3ZKB9, D4A666, E1B7L7, F1QZ88, F6NSX9, F8VPJ6, P59759, P78364, Q08CM4, Q0IHV2, Q15723, Q2IBE6, Q2IBF7, Q2QLB3, Q3TUF7, Q4G0F8, Q5DTH5, Q5U4Q0, Q5ZIE8, Q5ZM88, Q63HK5, Q641Z1, Q6P4L9, Q6P4R8, Q6PIJ4, Q6ZPK0, Q6ZSZ6, Q6ZU65, Q76L83, Q7ZUK7, Q7ZUV7, Q80WC1, Q8AYC1, Q8BZ32, Q8C966, Q8CGV9, Q8CHP6, Q8NDX5

Diamond homologs: A5GFT6, B3DJM5, D3ZKB9, P22265, Q2HNT1, Q2HNT2, Q5DTH5, Q63HK5, Q68FE9, Q6ZSZ6, Q8CGV9, Q9NRE2, Q9U3V5

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
APBB1	“up-regulates activity”	TSHZ3	relocalization
TSHZ3	“up-regulates activity”	HDAC1	relocalization
TSHZ3	“down-regulates quantity by repression”	CASP4	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
eye development	6	25.7×	9e-05
response to wounding	6	16.2×	4e-04
brain development	8	7.8×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	165
Likely benign	29
Benign	5

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3063590	NM_020856.4(TSHZ3):c.188C>T (p.Pro63Leu)	Likely pathogenic

SpliceAI

713 predictions. Top by Δscore:

Variant	Effect	Δscore
19:31349174:TCGTA:T	donor_loss	1.0000
19:31349175:CGTA:C	donor_loss	1.0000
19:31349176:GTAC:G	donor_loss	1.0000
19:31349177:TACCT:T	donor_loss	1.0000
19:31349179:C:CT	donor_loss	1.0000
19:31349179:CCTG:C	donor_gain	1.0000
19:31279750:AGG:A	acceptor_gain	0.9900
19:31279757:C:CT	acceptor_gain	0.9900
19:31279758:A:AC	acceptor_gain	0.9900
19:31279761:A:AC	acceptor_gain	0.9900
19:31279761:A:C	acceptor_gain	0.9900
19:31279768:G:C	acceptor_gain	0.9900
19:31349178:A:AC	donor_gain	0.9900
19:31349179:C:CC	donor_gain	0.9900
19:31349207:T:TA	donor_gain	0.9900
19:31279748:ATAGG:A	acceptor_gain	0.9800
19:31279749:TAGG:T	acceptor_gain	0.9800
19:31279751:GG:G	acceptor_gain	0.9800
19:31279757:C:T	acceptor_gain	0.9800
19:31279765:C:CT	acceptor_gain	0.9800
19:31279766:A:T	acceptor_gain	0.9800
19:31279768:G:GC	acceptor_gain	0.9800
19:31308596:T:TA	donor_gain	0.9800
19:31279758:A:C	acceptor_gain	0.9700
19:31279790:A:C	acceptor_gain	0.9700
19:31279753:C:CC	acceptor_gain	0.9600
19:31279785:G:C	acceptor_gain	0.9600
19:31279785:G:GC	acceptor_gain	0.9600
19:31279790:A:AC	acceptor_gain	0.9600
19:31279752:GC:G	acceptor_loss	0.9500

AlphaMissense

7184 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:31276601:G:C	H1064Q	1.000
19:31276601:G:T	H1064Q	1.000
19:31276603:G:C	H1064D	1.000
19:31276607:T:A	K1062N	1.000
19:31276607:T:G	K1062N	1.000
19:31276608:T:A	K1062I	1.000
19:31276609:T:C	K1062E	1.000
19:31276614:A:G	L1060P	1.000
19:31276614:A:T	L1060H	1.000
19:31276616:G:C	H1059Q	1.000
19:31276616:G:T	H1059Q	1.000
19:31276617:T:C	H1059R	1.000
19:31276618:G:C	H1059D	1.000
19:31276618:G:T	H1059N	1.000
19:31276620:A:G	L1058P	1.000
19:31276622:T:A	K1057N	1.000
19:31276622:T:G	K1057N	1.000
19:31276624:T:C	K1057E	1.000
19:31276626:A:T	V1056D	1.000
19:31276629:G:T	A1055D	1.000
19:31276643:A:C	F1050L	1.000
19:31276643:A:T	F1050L	1.000
19:31276644:A:C	F1050C	1.000
19:31276644:A:G	F1050S	1.000
19:31276645:A:G	F1050L	1.000
19:31276655:G:C	C1046W	1.000
19:31276656:C:A	C1046F	1.000
19:31276656:C:G	C1046S	1.000
19:31276656:C:T	C1046Y	1.000
19:31276657:A:G	C1046R	1.000

dbSNP variants (sampled 300 via entrez): RS1000011346 (19:31206368 G>T), RS1000029176 (19:31264434 C>T), RS1000044791 (19:31339402 C>T), RS1000059824 (19:31344364 T>C,G), RS1000109512 (19:31240587 T>C), RS1000109751 (19:31256168 T>A,G), RS1000112974 (19:31190459 C>A,G), RS1000122732 (19:31163919 A>C), RS1000127766 (19:31203180 T>G), RS1000141537 (19:31217263 C>A), RS1000146172 (19:31179543 C>T), RS1000159902 (19:31199186 A>G), RS1000162469 (19:31352772 T>C), RS1000179575 (19:31347298 T>C), RS1000199602 (19:31306496 T>C)

Disease associations

OMIM: gene MIM:614119 | disease phenotypes: MIM:610805

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital anomaly of kidney and urinary tract	Moderate	Autosomal dominant
autism spectrum disorder	Limited	Autosomal dominant

Mondo (4): prostate cancer (MONDO:0008315), congenital anomaly of kidney and urinary tract (MONDO:0019719), neurodevelopmental disorder (MONDO:0700092), autism spectrum disorder (MONDO:0005258)

Orphanet (2): Familial prostate cancer (Orphanet:1331), Renal or urinary tract malformation (Orphanet:93545)

HPO phenotypes

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

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST000477_14	Cognitive performance	6.000000e-06
GCST001178_14	Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid)	8.000000e-07
GCST002304_17	Fractional exhaled nitric oxide (childhood)	6.000000e-06
GCST002304_5	Fractional exhaled nitric oxide (childhood)	3.000000e-06
GCST003263_16	Post bronchodilator FEV1 in COPD	2.000000e-07
GCST003992_19	Photic sneeze reflex	1.000000e-08
GCST006482_38	Lung function (FEV1/FVC)	3.000000e-09
GCST006482_39	Lung function (FEV1/FVC)	4.000000e-07
GCST006482_7	Lung function (FEV1/FVC)	5.000000e-08
GCST007094_124	Diastolic blood pressure	2.000000e-08
GCST007095_4	Systolic blood pressure	4.000000e-08
GCST007095_5	Systolic blood pressure	4.000000e-08
GCST007098_54	Diastolic blood pressure	1.000000e-06
GCST007098_55	Diastolic blood pressure	3.000000e-06
GCST007099_19	Systolic blood pressure	4.000000e-10
GCST007159_32	Corneal astigmatism	2.000000e-06
GCST007324_39	Adventurousness	3.000000e-08
GCST007325_278	General risk tolerance (MTAG)	6.000000e-13
GCST007325_86	General risk tolerance (MTAG)	1.000000e-09
GCST007430_4	Peak expiratory flow	2.000000e-06
GCST007431_134	Lung function (FEV1/FVC)	4.000000e-23
GCST007432_197	FEV1	3.000000e-11
GCST007576_166	Chronotype	4.000000e-09
GCST007576_41	Chronotype	2.000000e-08
GCST008888_4	Systemising	6.000000e-07
GCST009724_74	Vertical cup-disc ratio (multi-trait analysis)	2.000000e-11
GCST010002_53	Refractive error	1.000000e-10
GCST90012857_3	Falling risk	2.000000e-08

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test
EFO:0007760	eicosapentaenoic acid measurement
EFO:0005536	nitric oxide exhalation measurement
EFO:0004314	forced expiratory volume
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0004713	FEV/FVC ratio
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure
EFO:1002040	Corneal astigmatism
EFO:0008579	risk-taking behaviour
EFO:0009718	peak expiratory flow
EFO:0008328	chronotype measurement
EFO:0010221	systemising measurement
EFO:0006939	cup-to-disc ratio measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
C566906	Cakut (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	3
Estradiol	increases expression, affects cotreatment	2
Tretinoin	increases expression	2
Valproic Acid	increases expression, increases methylation	2
Aflatoxin B1	increases methylation	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	decreases methylation	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	increases methylation	1
beta-methylcholine	affects expression	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
MRK 003	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
NSC 689534	affects binding, decreases expression	1
Temozolomide	decreases expression	1
Arsenic Trioxide	decreases expression	1
Vorinostat	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX