ANKZF1

Summary

ANKZF1 (ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1, HGNC:25527) is a protein-coding gene on chromosome 2q35, encoding tRNA endonuclease ANKZF1 (Q9H8Y5). Endonuclease that cleaves polypeptidyl-tRNAs downstream of the ribosome-associated quality control (RQC) pathway to release incompletely synthesized polypeptides for degradation.

Enables RNA endonuclease activity and catalytic activity, acting on a tRNA. Involved in cellular response to hydrogen peroxide; protein quality control for misfolded or incompletely synthesized proteins; and rescue of stalled ribosome. Located in cytoplasm.

Source: NCBI Gene 55139 — RefSeq curated summary.

At a glance

• Gene–disease (curated): inflammatory bowel disease (Moderate, GenCC)
• Clinical variants (ClinVar): 756 total
• MANE Select transcript: NM_018089

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25527
Approved symbol	ANKZF1
Name	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
Location	2q35
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10415, ZNF744, Vms1
Ensembl gene	ENSG00000163516
Ensembl biotype	protein_coding
OMIM	617541
Entrez	55139

Gene structure

Transcript identifiers

Ensembl transcripts: 39 — 20 protein_coding, 18 retained_intron, 1 nonsense_mediated_decay

ENST00000323348, ENST00000409849, ENST00000410034, ENST00000416565, ENST00000435521, ENST00000436226, ENST00000447157, ENST00000453432, ENST00000460966, ENST00000461731, ENST00000463792, ENST00000464763, ENST00000465550, ENST00000467884, ENST00000468387, ENST00000474225, ENST00000475202, ENST00000477479, ENST00000483188, ENST00000486203, ENST00000489580, ENST00000490526, ENST00000491181, ENST00000493563, ENST00000494886, ENST00000496346, ENST00000906511, ENST00000906515, ENST00000906517, ENST00000906522, ENST00000906523, ENST00000906524, ENST00000923155, ENST00000923156, ENST00000923157, ENST00000923158, ENST00000963354, ENST00000963355, ENST00000963356

RefSeq mRNA: 3 — MANE Select: NM_018089 NM_001042410, NM_001282792, NM_018089

CCDS: CCDS42821, CCDS63129

Canonical transcript exons

ENST00000323348 — 14 exons

Exon	Start	End
ENSE00001284388	219234826	219235312
ENSE00001355944	219234133	219234288
ENSE00001863692	219229806	219229900
ENSE00003462605	219235474	219235585
ENSE00003507260	219233715	219233943
ENSE00003513557	219235708	219235875
ENSE00003595402	219232260	219232362
ENSE00003599657	219236010	219236095
ENSE00003609365	219231928	219232040
ENSE00003624153	219233079	219233191
ENSE00003654625	219232490	219232683
ENSE00003659059	219230228	219230405
ENSE00003672918	219233286	219233433
ENSE00003893295	219236322	219236679

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 98.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.0601 / max 354.9648, expressed in 1811 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25431	32.8221	1811
25432	0.2380	100

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.24	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.13	gold quality
cerebellar hemisphere	UBERON:0002245	97.87	gold quality
cerebellar cortex	UBERON:0002129	97.74	gold quality
left ovary	UBERON:0002119	97.05	gold quality
right ovary	UBERON:0002118	96.72	gold quality
lower esophagus mucosa	UBERON:0035834	96.54	gold quality
minor salivary gland	UBERON:0001830	96.48	gold quality
body of pancreas	UBERON:0001150	96.33	gold quality
adenohypophysis	UBERON:0002196	96.28	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.27	gold quality
left lobe of thyroid gland	UBERON:0001120	96.23	gold quality
granulocyte	CL:0000094	96.21	gold quality
metanephros cortex	UBERON:0010533	96.14	gold quality
right lobe of thyroid gland	UBERON:0001119	96.07	gold quality
cerebellum	UBERON:0002037	95.98	gold quality
skin of leg	UBERON:0001511	95.84	gold quality
tendon of biceps brachii	UBERON:0008188	95.84	gold quality
tibial nerve	UBERON:0001323	95.79	gold quality
mucosa of stomach	UBERON:0001199	95.78	gold quality
skin of abdomen	UBERON:0001416	95.76	gold quality
body of uterus	UBERON:0009853	95.75	gold quality
apex of heart	UBERON:0002098	95.64	gold quality
right lung	UBERON:0002167	95.62	gold quality
body of stomach	UBERON:0001161	95.61	gold quality
endocervix	UBERON:0000458	95.57	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.37	gold quality
sural nerve	UBERON:0015488	95.35	gold quality
ectocervix	UBERON:0012249	95.31	gold quality
transverse colon	UBERON:0001157	95.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.37
E-MTAB-4850	no	1462.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting ANKZF1, 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-4319	99.76	69.83	2586
HSA-MIR-141-5P	99.57	67.86	897
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-8070	99.07	69.30	1303
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-502-5P	98.77	66.51	906
HSA-MIR-6764-3P	98.44	67.64	1153
HSA-MIR-6824-3P	98.44	67.62	1154
HSA-MIR-192-3P	97.52	67.66	1001
HSA-MIR-339-5P	96.73	66.01	820
HSA-MIR-9900	96.06	65.48	557
HSA-MIR-1915-5P	95.25	65.78	571
HSA-MIR-328-3P	92.82	64.37	521

Literature-anchored findings (GeneRIF, showing 6)

• loss-of-function mutations in ANKZF1 result in deregulation of mitochondrial integrity, and this may play a pathogenic role in the development of infantile-onset inflammatory bowel disease (PMID:28302725)
• ANKZF1 peptidyl-tRNA hydrolases release nascent chains from stalled ribosomes (PMID:29632312)
• Rendering 60S RNCs resistant to Ptrh1 but susceptible to ANKZF1. (PMID:30244831)
• High ANKZF1 is an independent factor of poor survival (overall survival and recurrence-free survival) in colon cancer by taking part in angiogenesis and some cancer signaling pathways. (PMID:31257922)
• Overexpression of ZNF169 promotes the growth and proliferation of colorectal cancer cells via the upregulation of ANKZF1. (PMID:38666541)
• ANKZF1 knockdown inhibits glioblastoma progression by promoting intramitochondrial protein aggregation through mitoRQC. (PMID:38670305)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankzf1	ENSDARG00000041904
mus_musculus	Ankzf1	ENSMUSG00000026199
rattus_norvegicus	Ankzf1	ENSRNOG00000019052
caenorhabditis_elegans		WBGENE00019457

Protein

Protein identifiers

tRNA endonuclease ANKZF1 — Q9H8Y5 (reviewed: Q9H8Y5)

Alternative names: Ankyrin repeat and zinc finger domain-containing protein 1, Zinc finger protein 744

All UniProt accessions (7): B8ZZS4, C9J5H7, C9JQZ3, C9JS61, C9K022, Q9H8Y5, F8WD44

UniProt curated annotations — full annotation on UniProt →

Function. Endonuclease that cleaves polypeptidyl-tRNAs downstream of the ribosome-associated quality control (RQC) pathway to release incompletely synthesized polypeptides for degradation. The RQC pathway disassembles aberrantly stalled translation complexes to recycle or degrade the constituent parts. ANKZF1 acts downstream disassembly of stalled ribosomes and specifically cleaves off the terminal 3’-CCA nucleotides universal to all tRNAs from polypeptidyl-tRNAs, releasing (1) ubiquitinated polypeptides from 60S ribosomal subunit for degradation and (2) cleaved tRNAs. ANKZF1-cleaved tRNAs are then repaired and recycled by ELAC1 and TRNT1. Also plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under conditions of cellular stress.

Subunit / interactions. Interacts (via VIM motif) with VCP.

Subcellular location. Cytoplasm.

Domain organisation. The VLRF1 domain mediates binding to the 60S ribosomal subunit.

Similarity. Belongs to the ANKZF1/VMS1 family.

RefSeq proteins (3): NP_001035869, NP_001269721, NP_060559* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR013087	Znf_C2H2_type	Domain
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR041175	VLRF1/Vms1	Domain
IPR041540	VATC	Domain
IPR047139	ANKZ1/VMS1	Family

Pfam: PF00023, PF18716, PF18826

Enzyme classification (BRENDA):

• EC 3.1.1.29 — peptidyl-tRNA hydrolase (BRENDA: 24 organisms, 89 substrates, 19 inhibitors, 50 Km, 45 kcat entries)

Substrate kinetics (BRENDA)

22 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
DIACETYL-LYSYL-TRNALYS	—	14
DIACETYL-LYS-TRNALYS	—	9
DIACETYL-LYSINE-TRNA	—	5
N-ACETYL-ALA-TRNA(ALA)	0.0047–0.0269	4
FORMYL-METHIONYL-TRNAFMET	—	2
ACETYL-HIS-TRNAHIS	—	1
ACETYL-HISTIDYL-TRNA	—	1
ACETYL-HISTIDYL-TRNAHIS	—	1
BULK PEPTIDYL-TRNA	0.008	1
DEPHOSPHORYLATED DIACYL-LYSINE-TRNA	—	1
DEPHOSPHORYLATED FORMYL-MET-TRNAFMET	—	1
DEPHOSPHORYLATED FORMYL-METHIONINYL-TRNA	—	1
FORMYL-MET-TRNAFMET	—	1
FORMYL-METHIONYL-TRNA	—	1
N-ACETYL-MET-TRNA	0.0022	1

UniProt features (34 total): modified residue 7, region of interest 6, compositionally biased region 6, sequence variant 6, repeat 2, mutagenesis site 2, chain 1, domain 1, coiled-coil region 1, active site 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H8Y5-F1	69.09	0.18

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 (1): 246

Post-translational modifications (7): 258, 361, 398, 533, 607, 675, 680

Mutagenesis-validated functional residues (2):

Position	Phenotype
246	abolished ability to cleave polypeptidyl-trnas.
661–662	abolishes interaction with vcp.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9954709	Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide

MSigDB gene sets: 157 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, AP2_Q3, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, AATGGAG_MIR136, CAGCTG_AP4_Q5, GOBP_TRANSLATION, CATRRAGC_UNKNOWN, GOMF_RNA_ENDONUCLEASE_ACTIVITY, GOBP_CELLULAR_RESPONSE_TO_HYDROGEN_PEROXIDE, AAAGACA_MIR511

GO Biological Process (6): protein quality control for misfolded or incompletely synthesized proteins (GO:0006515), ERAD pathway (GO:0036503), cellular response to hydrogen peroxide (GO:0070301), rescue of stalled cytosolic ribosome (GO:0072344), tRNA 3’-terminal CCA addition (GO:0001680), tRNA 3’-end processing (GO:0042780)

GO Molecular Function (8): RNA endonuclease activity (GO:0004521), zinc ion binding (GO:0008270), hydrolase activity (GO:0016787), catalytic activity, acting on a tRNA (GO:0140101), nuclease activity (GO:0004518), endonuclease activity (GO:0004519), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Ribosome-associated quality control	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
protein catabolic process	1
proteasomal protein catabolic process	1
response to endoplasmic reticulum stress	1
response to chemical	1
cellular response to reactive oxygen species	1
response to hydrogen peroxide	1
cytoplasmic translational elongation	1
ribosome disassembly	1
CCA tRNA nucleotidyltransferase activity	1
tRNA 3’-end processing	1
CC tRNA cytidylyltransferase activity	1
ATP:3’-cytidine-cytidine-tRNA adenylyltransferase activity	1
tRNA processing	1
RNA 3’-end processing	1
endonuclease activity	1
RNA nuclease activity	1
transition metal ion binding	1
catalytic activity	1
catalytic activity, acting on RNA	1
catalytic activity, acting on a nucleic acid	1
nuclease activity	1
binding	1
cation binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1336 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKZF1	VCP	P55072	961
ANKZF1	LTN1	O94822	862
ANKZF1	NPLOC4	Q8TAT6	827
ANKZF1	UFD1	Q92890	823
ANKZF1	NEMF	O60524	796
ANKZF1	TCF25	Q9BQ70	754
ANKZF1	UBE4A	Q14139	719
ANKZF1	UBE4B	O95155	706
ANKZF1	PLAA	Q9Y263	676
ANKZF1	ATAD1	Q8NBU5	649
ANKZF1	ZNF598	Q86UK7	591
ANKZF1	CCDC47	Q96A33	568
ANKZF1	ABCE1	P61221	543
ANKZF1	HBS1L	Q9Y450	542
ANKZF1	UBXN6	Q9BZV1	538

IntAct

29 interactions, top by confidence:

A	B	Type	Score
ORF	EIF3D	psi-mi:“MI:0914”(association)	0.560
ORF	ANKZF1	psi-mi:“MI:0915”(physical association)	0.500
ANKZF1	CRK	psi-mi:“MI:0915”(physical association)	0.370
STAT6	ANKZF1	psi-mi:“MI:0915”(physical association)	0.370
ANKZF1	DNAJB11	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
	ZNF316	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ANKZF1	PSMC3	psi-mi:“MI:0914”(association)	0.350
UBL4B	FECH	psi-mi:“MI:0914”(association)	0.350
H1-6	RIOK3	psi-mi:“MI:0914”(association)	0.350
UTP23	ZNF316	psi-mi:“MI:0914”(association)	0.350
AGGF1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
DGCR8	VWA8	psi-mi:“MI:2364”(proximity)	0.270
GNL3	VWA8	psi-mi:“MI:2364”(proximity)	0.270
ILF3	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
LIN28B	MEX3A	psi-mi:“MI:2364”(proximity)	0.270
SBDS	RPSA2	psi-mi:“MI:2364”(proximity)	0.270
TBRG4	VWA8	psi-mi:“MI:2364”(proximity)	0.270
ZC3H11A	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
ZRANB2	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
NPM1	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
EIF3G	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
ANKZF1	ypeB	psi-mi:“MI:0915”(physical association)	0.000
ANKZF1	AURKB	psi-mi:“MI:0915”(physical association)	0.000
ANKZF1	NRSN2	psi-mi:“MI:0915”(physical association)	0.000
ANKZF1	CA2	psi-mi:“MI:0915”(physical association)	0.000
ANKZF1	EMS1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (55): NAA35 (Co-fractionation), ANKZF1 (Reconstituted Complex), ANKZF1 (Two-hybrid), ANKZF1 (Affinity Capture-MS), ANKZF1 (Reconstituted Complex), ANKZF1 (Affinity Capture-MS), ANKZF1 (Negative Genetic), SNRPB (Positive Genetic), ANKZF1 (Affinity Capture-MS), ANKZF1 (Affinity Capture-MS), ANKZF1 (Affinity Capture-MS), ANKZF1 (Affinity Capture-MS), ANKZF1 (Affinity Capture-MS), ANKZF1 (Affinity Capture-MS), ANKZF1 (Affinity Capture-MS)

ESM2 similar proteins: A0JN53, A1L3T7, C9JE40, D2I4M3, G3HQ82, O43299, O75800, O94812, P58660, Q0P5G1, Q15572, Q1RMI8, Q1W1Y5, Q3T1I9, Q3U829, Q56B11, Q571B6, Q58CQ5, Q5ND34, Q5R8S0, Q66H85, Q6NZL6, Q6ZNJ1, Q6ZQA0, Q76MJ5, Q80TE0, Q80UU1, Q80UW5, Q8BGI5, Q8BMG1, Q8C3R1, Q8C3S2, Q8C7B8, Q8CE13, Q8IZL8, Q8N163, Q8VDP4, Q8WXE1, Q96HA7, Q9BQG0

Diamond homologs: G0S920, O59811, Q58CQ5, Q7TM96, Q80UU1, Q90Y35, Q91VY9, Q969S3, Q9H8Y5, Q9HET8, O74977, P38344, Q66H85, P34511, Q04311, Q06709, Q8H1G5, Q9ZQ18

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	506
Likely benign	207
Benign	20

Top pathogenic / likely-pathogenic (0)

SpliceAI

2003 predictions. Top by Δscore:

Variant	Effect	Δscore
2:219229893:G:GT	donor_gain	1.0000
2:219229893:G:T	donor_gain	1.0000
2:219229915:G:GT	donor_gain	1.0000
2:219232581:G:GT	donor_gain	1.0000
2:219232585:T:G	donor_gain	1.0000
2:219233284:A:AG	acceptor_gain	1.0000
2:219233285:G:GG	acceptor_gain	1.0000
2:219233323:AC:A	acceptor_gain	1.0000
2:219233324:C:CA	acceptor_gain	1.0000
2:219234252:G:GT	donor_gain	1.0000
2:219235600:G:GT	donor_gain	1.0000
2:219235618:G:GT	donor_gain	1.0000
2:219235618:G:T	donor_gain	1.0000
2:219235704:CCA:C	acceptor_loss	1.0000
2:219235706:A:AG	acceptor_gain	1.0000
2:219235707:G:GA	acceptor_loss	1.0000
2:219235707:G:GG	acceptor_gain	1.0000
2:219235707:GGT:G	acceptor_gain	1.0000
2:219235872:GAAG:G	donor_gain	1.0000
2:219235876:G:GG	donor_gain	1.0000
2:219235876:GTG:G	donor_loss	1.0000
2:219235877:T:G	donor_loss	1.0000
2:219229986:C:G	donor_gain	0.9900
2:219230339:GGCC:G	donor_gain	0.9900
2:219232487:CAGGA:C	acceptor_gain	0.9900
2:219232488:AGGAG:A	acceptor_gain	0.9900
2:219232489:GGA:G	acceptor_gain	0.9900
2:219232489:GGAGA:G	acceptor_gain	0.9900
2:219232601:GCTTT:G	donor_gain	0.9900
2:219232690:GAC:G	donor_gain	0.9900

AlphaMissense

4635 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:219235533:T:C	F584S	0.993
2:219232297:T:C	L100P	0.988
2:219235532:T:C	F584L	0.988
2:219235534:C:A	F584L	0.988
2:219235534:C:G	F584L	0.988
2:219232284:C:G	H96D	0.987
2:219232281:T:A	W95R	0.985
2:219232281:T:C	W95R	0.985
2:219233169:T:C	F217L	0.985
2:219233171:T:A	F217L	0.985
2:219233171:T:G	F217L	0.985
2:219236386:T:C	F708L	0.985
2:219236388:C:A	F708L	0.985
2:219236388:C:G	F708L	0.985
2:219236365:T:C	F701L	0.983
2:219236367:T:A	F701L	0.983
2:219236367:T:G	F701L	0.983
2:219232288:G:C	R97P	0.982
2:219232341:T:C	F115L	0.981
2:219232343:T:A	F115L	0.981
2:219232343:T:G	F115L	0.981
2:219235496:T:G	Y572D	0.981
2:219235249:C:A	A543D	0.978
2:219232268:T:A	H90Q	0.977
2:219232268:T:G	H90Q	0.977
2:219232501:A:C	S126R	0.977
2:219232503:C:A	S126R	0.977
2:219232503:C:G	S126R	0.977
2:219231999:T:C	C74R	0.976
2:219232286:T:A	H96Q	0.976

dbSNP variants (sampled 300 via entrez): RS1000150580 (2:219236722 G>C), RS1000301786 (2:219233350 C>T), RS1000683660 (2:219233642 G>A), RS1000763126 (2:219231106 T>A), RS1002446579 (2:219230273 G>C), RS1002862766 (2:219229473 G>A), RS1003199723 (2:219230641 T>A,C), RS1003440736 (2:219231695 A>G), RS1003473296 (2:219231468 C>T), RS1004418024 (2:219236632 C>T), RS1004747126 (2:219236266 G>A), RS1004825766 (2:219231749 G>T), RS1004878279 (2:219232009 G>C), RS1005187458 (2:219233582 C>G,T), RS1005865342 (2:219231235 A>G)

Disease associations

OMIM: gene MIM:617541 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
inflammatory bowel disease	Moderate	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
inflammatory bowel disease	Disputed	UD

Mondo (1): inflammatory bowel disease (MONDO:0005265)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D015212	Inflammatory Bowel Diseases	C06.405.205.731; C06.405.469.432

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
cobaltous chloride	increases expression, decreases reaction	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
bisphenol F	decreases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
lead acetate	decreases expression	1
beta-lapachone	increases expression	1
zinc chloride	decreases reaction, increases expression	1
benzo(e)pyrene	decreases methylation	1
cupric chloride	decreases expression	1
coumarin	increases phosphorylation	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
Sunitinib	increases expression	1
Microplastics	decreases expression, increases abundance	1
Vehicle Emissions	increases abundance, decreases expression	1
Curcumin	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Methapyrilene	decreases methylation	1
Polystyrenes	increases abundance, decreases expression	1
Ribonucleotides	affects binding	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00167882	PHASE4	COMPLETED	The Influence of 5-Aminosalicylates on Thiopurine Metabolite Levels
NCT00205062	PHASE4	TERMINATED	Positron Emission Tomography (PET)-Computed Tomography (CT) in Inflammatory Bowel Disease (IBD)
NCT00567593	PHASE4	COMPLETED	Gene Regulation by Thiazolidinediones
NCT00746395	PHASE4	COMPLETED	Randomized, Placebo-controlled Trial of Lubiprostone as a Preparation for Capsule Endoscopy
NCT01034358	PHASE4	COMPLETED	Immune Response to the Human Papillomavirus Vaccine in Young Women With Inflammatory Bowel Disease
NCT01056913	PHASE4	COMPLETED	NITI CAR27 (ColonRing) Compression Anastomosis in Colorectal Surgery
NCT01067547	PHASE4	COMPLETED	A Trial of Iron Replacement in Patients With Iron Deficiency.
NCT01341808	PHASE4	COMPLETED	Immunogenicity of Hepatitis A Vaccine in Inflammatory Bowel Disease (IBD) Patients
NCT01908283	PHASE4	COMPLETED	Induction of Immunity Against Streptococcus Pneumoniae in Adults With Inflammatory Bowel Disease
NCT01934088	PHASE4	COMPLETED	Satisfaction With Nurse Administered Propofol Sedation vs. Midazolam With Fentanyl Sedation for Endoscopy
NCT02162862	PHASE4	COMPLETED	Treating Disrupted Sleep in Individuals With Inflammatory Bowel Disease
NCT02248337	PHASE4	COMPLETED	Low Volume Colon Preparation for IBD
NCT02281799	PHASE4	WITHDRAWN	Thiopurine Induced Pancreatitis in IBD Patients
NCT02392286	PHASE4	TERMINATED	Corticosteroid Dosage for Crohn’s Disease Flare
NCT02437591	PHASE4	COMPLETED	Study to Evaluate the Pharmacokinetics of Fidaxomicin in Inflammatory Bowel Disease (IBD) Subjects With Clostridium Difficile Infection (CDI)
NCT02453776	PHASE4	COMPLETED	Precision Dosing of Infliximab Versus Conventional Dosing of Infliximab
NCT02461758	PHASE4	COMPLETED	Trial of High Dose vs. Standard Dose Influenza Vaccine in Inflammatory Bowel Disease Patients
NCT02566889	PHASE4	TERMINATED	An Efficacy and Safety Study of Infliximab Dose Escalation in Pediatric Participants With Inflammatory Bowel Disease
NCT02774057	PHASE4	UNKNOWN	Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With IBD
NCT02806206	PHASE4	UNKNOWN	Prucalopride Prior to Small Bowel Capsule Endoscopy
NCT02946203	PHASE4	COMPLETED	Comparison of VoLumen and Breeza Oral Contrast Agents in Pediatric Patients
NCT02994836	PHASE4	COMPLETED	GIS-SUSANTI-TNF-2015 (Anti-TNF Discontinuation )
NCT03220841	PHASE4	UNKNOWN	Stricture Definition and Treatment (STRIDENT) Drug Therapy Study
NCT03351972	PHASE4	COMPLETED	Differences in Preparation for Small Bowel Capsule Endoscopy
NCT03466983	PHASE4	COMPLETED	A Trial Comparing the Incidence of Hypophosphatemia in Relation to Treatment With Iron Isomaltoside and Ferric Carboxymaltose in Subjects With Iron Deficiency Anaemia Due to Inflammatory Bowel Disease
NCT03591770	PHASE4	TERMINATED	Shingrix Vaccine in Patients With Moderate to Severe Ulcerative Colitis on Tofacitinib
NCT03629379	PHASE4	COMPLETED	Response to Ustekinumab for Anti-tnf Induced Psoriasiform Skin Lesions
NCT03723447	PHASE4	COMPLETED	Intraoperative TAP Block With Bupivacaine/Dexamethasone Against Liposomal Bupivacaine (Exparel®)
NCT03798691	PHASE4	COMPLETED	Immunogenicity of Herpes Zoster Subunit Vaccine in Inflammatory Bowel Disease Patients Treated With Vedolizumab
NCT03860012	PHASE4	UNKNOWN	Folic Acid in Pediatric Inflammatory Bowel Disease
NCT03885713	PHASE4	COMPLETED	Identification of Predictive Biomarkers for Response to Biologic Therapies and Tofacitinib in Inflammatory Bowel Disease
NCT03917303	PHASE4	RECRUITING	Control Crohn Safe Trial
NCT04045782	PHASE4	COMPLETED	Evaluation of the Safety and Effectiveness of Switching From Humira® to Imraldi® in Flanders
NCT04304950	PHASE4	COMPLETED	Chronotherapy in Inflammatory Bowel Disease
NCT04626947	PHASE4	TERMINATED	Prevention of Recurrent Clostridium Difficile Infection (CDI) in Patients With Inflammatory Bowel Disease (IBD).
NCT04646187	PHASE4	ENROLLING_BY_INVITATION	De-escalation of Anti-TNF Therapy in Inflammatory Bowel Disease
NCT04835506	PHASE4	ACTIVE_NOT_RECRUITING	Proactive Infliximab Optimization Using a Pharmacokinetic Dashboard Versus Standard of Care in Patients With Inflammatory Bowel Disease: The OPTIMIZE Trial
NCT04982172	PHASE4	COMPLETED	Model-informed Dose De-escalation of Infliximab in Patients With Inflammatory Bowel Diseases
NCT05180175	PHASE4	COMPLETED	The Nordic IBD Treatment Strategy Trial
NCT05280405	PHASE4	UNKNOWN	Early Proactive Therapeutic Drug Monitoring of Infliximab in Children: EPIC Study