MUTYH
geneOn this page
Also known as MYH
Summary
MUTYH (mutY DNA glycosylase, HGNC:7527) is a protein-coding gene on chromosome 1p34.1, encoding Adenine DNA glycosylase (Q9UIF7). Involved in oxidative DNA damage repair.
This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 4595 — RefSeq curated summary.
At a glance
- Gene–disease (curated): familial adenomatous polyposis 2 (Definitive, ClinGen) — +3 more curated relationships
- GWAS associations: 2
- Clinical variants (ClinVar): 4,186 total — 184 pathogenic, 150 likely-pathogenic
- Phenotypes (HPO): 64
- Druggable target: yes
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
- MANE Select transcript:
NM_001048174
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7527 |
| Approved symbol | MUTYH |
| Name | mutY DNA glycosylase |
| Location | 1p34.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MYH |
| Ensembl gene | ENSG00000132781 |
| Ensembl biotype | protein_coding |
| OMIM | 604933 |
| Entrez | 4595 |
Gene structure
Transcript identifiers
Ensembl transcripts: 110 — 80 protein_coding, 15 nonsense_mediated_decay, 13 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000354383, ENST00000355498, ENST00000372098, ENST00000372104, ENST00000372110, ENST00000372115, ENST00000412971, ENST00000435155, ENST00000448481, ENST00000450313, ENST00000456914, ENST00000461495, ENST00000462387, ENST00000462388, ENST00000466231, ENST00000467459, ENST00000467940, ENST00000470256, ENST00000474703, ENST00000475516, ENST00000476789, ENST00000478796, ENST00000479746, ENST00000481139, ENST00000481571, ENST00000482094, ENST00000483127, ENST00000483642, ENST00000485271, ENST00000485484, ENST00000488731, ENST00000492494, ENST00000525160, ENST00000528013, ENST00000529892, ENST00000529984, ENST00000531105, ENST00000533178, ENST00000534453, ENST00000671856, ENST00000672011, ENST00000672314, ENST00000672593, ENST00000672764, ENST00000672818, ENST00000673134, ENST00000674679, ENST00000710952, ENST00000713749, ENST00000713750, ENST00000713751, ENST00000873954, ENST00000873955, ENST00000873956, ENST00000873957, ENST00000873958, ENST00000873959, ENST00000873960, ENST00000873961, ENST00000873962, ENST00000873963, ENST00000873964, ENST00000873965, ENST00000873966, ENST00000873967, ENST00000873968, ENST00000873969, ENST00000873970, ENST00000938227, ENST00000938228, ENST00000938229, ENST00000938230, ENST00000938231, ENST00000938232, ENST00000938233, ENST00000938234, ENST00000938235, ENST00000938236, ENST00000938237, ENST00000938238, ENST00000938239, ENST00000938240, ENST00000938241, ENST00000938242, ENST00000938243, ENST00000938244, ENST00000938245, ENST00000938246, ENST00000938247, ENST00000946255, ENST00000946256, ENST00000946257, ENST00000946258, ENST00000946259, ENST00000946260, ENST00000946261, ENST00000946262, ENST00000946263, ENST00000946264, ENST00000946265, ENST00000946266, ENST00000946267, ENST00000946268, ENST00000946269, ENST00000946270, ENST00000946271, ENST00000946272, ENST00000946273, ENST00000946274, ENST00000946275
RefSeq mRNA: 32 — MANE Select: NM_001048174
NM_001048171, NM_001048172, NM_001048173, NM_001048174, NM_001128425, NM_001293190, NM_001293191, NM_001293192, NM_001293195, NM_001293196, NM_001350650, NM_001350651, NM_001407069, NM_001407070, NM_001407071, NM_001407072, NM_001407073, NM_001407075, NM_001407077, NM_001407078, NM_001407079, NM_001407080, NM_001407081, NM_001407082, NM_001407083, NM_001407085, NM_001407086, NM_001407087, NM_001407088, NM_001407089, NM_001407091, NM_012222
CCDS: CCDS41321, CCDS41322, CCDS520, CCDS72776, CCDS72777, CCDS90938
Canonical transcript exons
ENST00000456914 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001787263 | 45339899 | 45339970 |
| ENSE00003461605 | 45333097 | 45333170 |
| ENSE00003511189 | 45330516 | 45330557 |
| ENSE00003520371 | 45329242 | 45329437 |
| ENSE00003522055 | 45332918 | 45332959 |
| ENSE00003546541 | 45333285 | 45333324 |
| ENSE00003548680 | 45332166 | 45332310 |
| ENSE00003570172 | 45331420 | 45331556 |
| ENSE00003583391 | 45331661 | 45331849 |
| ENSE00003651673 | 45331182 | 45331334 |
| ENSE00003664970 | 45332023 | 45332086 |
| ENSE00003665238 | 45332574 | 45332687 |
| ENSE00003673115 | 45332763 | 45332834 |
| ENSE00003702886 | 45332391 | 45332488 |
| ENSE00003786928 | 45333413 | 45333561 |
| ENSE00004282775 | 45334391 | 45334511 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 95.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3079 / max 73.7436, expressed in 1755 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12115 | 4.0389 | 1471 |
| 12112 | 3.3826 | 1410 |
| 12113 | 1.6522 | 905 |
| 12114 | 0.2341 | 109 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar hemisphere | UBERON:0002245 | 95.55 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.53 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.51 | gold quality |
| cerebellum | UBERON:0002037 | 95.49 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.00 | gold quality |
| granulocyte | CL:0000094 | 91.94 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.90 | gold quality |
| right uterine tube | UBERON:0001302 | 91.56 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 91.31 | gold quality |
| thyroid gland | UBERON:0002046 | 91.14 | gold quality |
| spleen | UBERON:0002106 | 91.02 | gold quality |
| tibial nerve | UBERON:0001323 | 90.78 | gold quality |
| pituitary gland | UBERON:0000007 | 90.65 | gold quality |
| left ovary | UBERON:0002119 | 90.55 | gold quality |
| endocervix | UBERON:0000458 | 90.52 | gold quality |
| right ovary | UBERON:0002118 | 90.08 | gold quality |
| adenohypophysis | UBERON:0002196 | 90.05 | gold quality |
| ectocervix | UBERON:0012249 | 90.00 | gold quality |
| ovary | UBERON:0000992 | 89.80 | gold quality |
| metanephros cortex | UBERON:0010533 | 89.67 | gold quality |
| body of uterus | UBERON:0009853 | 89.63 | gold quality |
| transverse colon | UBERON:0001157 | 89.52 | gold quality |
| uterine cervix | UBERON:0000002 | 89.49 | gold quality |
| prostate gland | UBERON:0002367 | 89.31 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 89.31 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 89.13 | gold quality |
| cortex of kidney | UBERON:0001225 | 88.98 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.95 | gold quality |
| small intestine | UBERON:0002108 | 88.61 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.46 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.20 |
| E-MTAB-7249 | no | 21.68 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MEF2A
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- interaction with mismatch repair proteins MutS homolog 2/MutS homolog 6 (PMID:11801590)
- Functional interaction of MutY homolog with proliferating cell nuclear antigen in fission yeast (and in human) (PMID:11805113)
- effect of a single nucleotide polymorphism (SNP) in the MYH gene on the difference in the expression levels of its products (PMID:12056405)
- Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C–>T:A mutations (PMID:12393807)
- Germline mutations but not somatic changes at this locus contribute to the pathogenesis of unselected colorectal cancers. (PMID:12707038)
- OGG1 and MYH function as suppressors for G:C to T:A transversions by 8OHG but not by BPDE in human cells. (PMID:12807753)
- MutY phosphorylation is defective in human colorectal cancer cell lines with wild-type MutY alleles (PMID:12966098)
- Biallelic MYH mutations confer susceptibility to colorectal cancer (PMID:14991577)
- MYH-associated polyposis(MAP) is present in about 20% of Italian FAP/AAPC patients, and in some patients with colorectal adenomas in the general population. Mutation 1395delGGA is a subpolymorphic MYH mutational event in some Caucasian populations. (PMID:14999774)
- Transversions in KRAS2 or APC are more common in colorectal cancers with single germ-line MYH variants than colorectal cancers with wild-type MYH. (PMID:15034862)
- patients with MYH-associated adenomatous polyposis were either apparently sporadic cases or had a family history consistent with recessive inheritance (PMID:15188161)
- data suggest that somatic mutations of base excision repair gene MYH contribute to the development of a sub-set of sporadic gastric cancers (PMID:15273732)
- MYH mutations cause multiple adenomas of the GI tract and seem to act by increasing the frequency of somatic APC mutations. (PMID:15290654)
- 3 new mutations (c.340T>C [p.Y114H]; c.503G>A [p.R168H]; and c.1186_1187insGG [p.E396fsX437]) are described. (PMID:15366000)
- Increased expression of the DNA glycosylase repair enzyme hMYH in A549 cells exposed to O2 and IR leads to improvements in cell survival. (PMID:15450125)
- Loss of heterozygosity in at least one of four loci in MYH was detected in eight (47%) of 17 colorectal tumors from monoallelic MYH gene mutation carriers but in only two (20%) of 10 colorectal tumors from biallelic MYH gene mutation carriers. (PMID:15523092)
- Mutation spectrum for MYH by direct DNA sequencing in 219 anonymous North Americans in genetic testing for polyposis colorectal cancer. (PMID:15635083)
- Pathogenic mechanisms underlying two hMYH polyposis-associated mutations. (PMID:15673720)
- Germ-line mutations of the MYH gene were studied in Japanese patients with multiple colorectal adenomas. (PMID:15890374)
- These data provide the strongest evidence to date for a causative role of BER defects in colorectal cancer etiology and show, to our knowledge for the first time, that heterozygous MUTYH mutations predispose to colorectal cancer later in life. (PMID:15931596)
- normal role of MutYH in the base excision repair of adenines misincorporated opposite 7,8-dihydro-8-oxoguanine in familial adenomatous polyposis (PMID:16042573)
- there was no significant difference in MYH mutation carrier status between patients with hepatocellular carcinoma, cholangiocarcinoma, and non-cancerous controls (PMID:16292541)
- Results warrant further study to test the hypothesis of mutations in MMR genes (in particular MSH6) and MUTYH acting together to increase cancer risk. (PMID:16408224)
- Mutation in MYH may be rarely involved in the pathogenesis of multiple sporadic colorectal adenomas in Korean population. (PMID:16521226)
- biallelic MUTYH mutations are the underlying genetic basis in a substantial fraction of patients with adenomatous polyposis (PMID:16557584)
- Our results suggest that hMUTYH might be a useful marker of oxidative stress and that oxidative stress and genomic instability are important in the PD disease process. (PMID:16773329)
- low-penetrance alleles of MYH are enriched in MMR gene mutation-negative colon cancer families (PMID:16774938)
- Mutations in the MUTYH gene have been reported to be associated with increased risk of developing colorectal cancer. This study underscores the need for large sample sizes in order to identify small gene effects when the disease allele frequency is low. (PMID:16804517)
- Mutations in MBD4 are unlikely to be implicated in HPS; MYH mutations should be studied, especially when adenomas occur in the same patient. (PMID:16831587)
- Patients with biallelic MYH mutations showed disappearance of staining from the nucleus, and segregation of immunoreactivity in the cytoplasm, both in neoplastic and surrounding healthy mucosa. (PMID:16890597)
- Colorectal cancer has an important genetic component. Colorectal polyposis associated with mutations in the MYH gene is an autosomal recessive syndrome characterized by the development of colorectal adenomas and cancer. (PMID:16938257)
- Results show high frequency of MUTYH mutations in patients with multiple polyposis. (PMID:16941501)
- Biallelic germline mutation of MYH in colorectal cancer also demonstrated microsatellite instability as a result of biallelic hypermethylation of the MLH1 promoter. (PMID:17031395)
- MSH6/MUTYH heterozygote mutation carriers display a predominant HNPCC molecular tumour phenotype, with microsatellite instability and underrepresentation of G>T transversions. (PMID:17039270)
- characterization of one newly identified MYH-associated polyposis MYH missense mutation (R231L) that lies adjacent to the putative hMSH6 binding domain; the mutant protein has severe defects in A/GO binding & adenine glycosylase activities (PMID:17081686)
- MYH mutations are unlikely to contribute to prostate cancer risk. (PMID:17219200)
- germline MYH mutations (by dHPLCO) in 20 clinic-based multiple adenoma patients who were adenomatous polyposis coli (APC) mutation-negative. (PMID:17219385)
- Two novel mutations of MYH and a novel OGG1 polymorphism seemed to be associated with multiple colorectal adenomas in Korean families. (PMID:17252231)
- the presence of germline mutations in the MUTYH genes in attenuated familial adenomatous polyposis. (PMID:17489848)
- No germline mutations in MUTYH in Multiple colorectal adenoma. (PMID:17505512)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mutyh | ENSDARG00000074889 |
| mus_musculus | Mutyh | ENSMUSG00000028687 |
| rattus_norvegicus | Mutyh | ENSRNOG00000017887 |
Paralogs (1): NTHL1 (ENSG00000065057)
Protein
Protein identifiers
Adenine DNA glycosylase — Q9UIF7 (reviewed: Q9UIF7)
Alternative names: MutY homolog
All UniProt accessions (25): Q9UIF7, A0A5F9ZHI2, A0A5F9ZI14, A0A5F9ZI60, A0A6Q8PF38, A0AAQ5BGW7, E5KP25, E5KP26, E5KP27, E5KP28, E9PI11, E9PIW5, E9PKM9, E9PLT4, E9PM53, E9PMH1, E9PNY0, E9PP30, E9PP34, H0YCA8, H0YCY5, H0YEI2, H0YER6, Q5T413, Q5T418
UniProt curated annotations — full annotation on UniProt →
Function. Involved in oxidative DNA damage repair. Initiates repair of AoxoG to CG by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities.
Subcellular location. Nucleus. Mitochondrion.
Disease relevance. Familial adenomatous polyposis 2 (FAP2) [MIM:608456] A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. The disease is caused by variants affecting the gene represented in this entry. Gastric cancer (GASC) [MIM:613659] A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. The gene represented in this entry may be involved in disease pathogenesis. Somatic mutations contribute to the development of a sub-set of sporadic gastric cancers in carriers of Helicobacter pylori.
Cofactor. Binds 1 [4Fe-4S] cluster. The cluster does not appear to play a role in catalysis, but is probably involved in the proper positioning of the enzyme along the DNA strand.
Similarity. Belongs to the Nth/MutY family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UIF7-1 | Alpha-1 | yes |
| Q9UIF7-2 | Alpha-2 | |
| Q9UIF7-3 | Alpha-3 | |
| Q9UIF7-4 | Beta-1 | |
| Q9UIF7-5 | Gamma-2 | |
| Q9UIF7-6 | Gamma-3 |
RefSeq proteins (32): NP_001041636, NP_001041637, NP_001041638, NP_001041639, NP_001121897, NP_001280119, NP_001280120, NP_001280121, NP_001280124, NP_001280125, NP_001337579, NP_001337580, NP_001393998, NP_001393999, NP_001394000, NP_001394001, NP_001394002, NP_001394004, NP_001394006, NP_001394007, NP_001394008, NP_001394009, NP_001394010, NP_001394011, NP_001394012, NP_001394014, NP_001394015, NP_001394016, NP_001394017, NP_001394018, NP_001394020, NP_036354 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000086 | NUDIX_hydrolase_dom | Domain |
| IPR000445 | HhH_motif | Conserved_site |
| IPR003265 | HhH-GPD_domain | Domain |
| IPR003651 | Endonuclease3_FeS-loop_motif | Conserved_site |
| IPR004035 | Endouclease-III_FeS-bd_BS | Binding_site |
| IPR004036 | Endonuclease-III-like_CS2 | Conserved_site |
| IPR011257 | DNA_glycosylase | Homologous_superfamily |
| IPR015797 | NUDIX_hydrolase-like_dom_sf | Homologous_superfamily |
| IPR023170 | HhH_base_excis_C | Homologous_superfamily |
| IPR029119 | MutY_C | Domain |
| IPR044298 | MIG/MutY | Family |
Pfam: PF00633, PF00730, PF14815
UniProt features (110 total): sequence variant 60, helix 22, strand 11, binding site 4, splice variant 3, turn 2, mutagenesis site 2, chain 1, domain 1, region of interest 1, short sequence motif 1, active site 1, site 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FAY | X-RAY DIFFRACTION | 1.91 |
| 3N5N | X-RAY DIFFRACTION | 2.3 |
| 1X51 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UIF7-F1 | 79.62 | 0.61 |
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 (2): 131 (proton donor/acceptor); 233 (transition state stabilizer)
Ligand- & substrate-binding residues (4): 287; 294; 297; 303
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 121 | does not affect dna glycosylase activity. does not affect function in dna repair. |
| 233 | loss of dna glycosylase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-110330 | Recognition and association of DNA glycosylase with site containing an affected purine |
| R-HSA-110331 | Cleavage of the damaged purine |
| R-HSA-110357 | Displacement of DNA glycosylase by APEX1 |
| R-HSA-9608287 | Defective MUTYH substrate binding |
| R-HSA-9608290 | Defective MUTYH substrate processing |
MSigDB gene sets: 297 (showing top):
MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, KAUFFMANN_DNA_REPAIR_GENES, MUELLER_PLURINET, GOBP_DNA_MODIFICATION, MORF_PPP5C, BLALOCK_ALZHEIMERS_DISEASE_UP, chr1p34, GOBP_DNA_DAMAGE_RESPONSE, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, GOBP_MISMATCH_REPAIR, FISCHER_DREAM_TARGETS, REACTOME_DNA_REPAIR, MODULE_568
GO Biological Process (7): DNA repair (GO:0006281), base-excision repair (GO:0006284), mismatch repair (GO:0006298), depurination (GO:0045007), negative regulation of necroptotic process (GO:0060546), response to stress (GO:0006950), DNA damage response (GO:0006974)
GO Molecular Function (14): purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701), DNA N-glycosylase activity (GO:0019104), oxidized purine DNA binding (GO:0032357), MutSalpha complex binding (GO:0032407), 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039), adenine/guanine mispair binding (GO:0035485), metal ion binding (GO:0046872), 4 iron, 4 sulfur cluster binding (GO:0051539), DNA binding (GO:0003677), catalytic activity (GO:0003824), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798), iron-sulfur cluster binding (GO:0051536)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Depurination | 2 |
| Defective Base Excision Repair Associated with MUTYH | 2 |
| Resolution of Abasic Sites (AP sites) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA repair | 2 |
| intracellular membrane-bounded organelle | 2 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| base-excision repair, AP site formation | 1 |
| DNA modification | 1 |
| regulation of necroptotic process | 1 |
| negative regulation of programmed necrotic cell death | 1 |
| necroptotic process | 1 |
| response to stimulus | 1 |
| cellular response to stress | 1 |
| mismatch base pair DNA N-glycosylase activity | 1 |
| hydrolase activity, hydrolyzing N-glycosyl compounds | 1 |
| catalytic activity, acting on DNA | 1 |
| oxidized DNA binding | 1 |
| mismatch repair complex binding | 1 |
| oxidized purine nucleobase lesion DNA N-glycosylase activity | 1 |
| mismatched DNA binding | 1 |
| cation binding | 1 |
| iron-sulfur cluster binding | 1 |
| nucleic acid binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| catalytic activity | 1 |
| hydrolase activity | 1 |
| metal cluster binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1726 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MUTYH | MSH6 | P52701 | 976 |
| MUTYH | OGG1 | P78554 | 971 |
| MUTYH | NUDT1 | P36639 | 927 |
| MUTYH | MLH1 | P40692 | 914 |
| MUTYH | PMS2 | P54278 | 896 |
| MUTYH | MSH2 | P43246 | 892 |
| MUTYH | RAD9A | Q99638 | 891 |
| MUTYH | APEX1 | P27695 | 870 |
| MUTYH | POLD1 | P28340 | 868 |
| MUTYH | MLH3 | P49751 | 863 |
| MUTYH | NTHL1 | P78549 | 862 |
| MUTYH | HUS1 | O60921 | 819 |
| MUTYH | TDG | Q13569 | 815 |
| MUTYH | PMS1 | P54277 | 813 |
| MUTYH | MSH3 | P20585 | 810 |
IntAct
39 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MUTYH | AKT1 | psi-mi:“MI:2364”(proximity) | 0.470 |
| MUTYH | AKT1 | psi-mi:“MI:0915”(physical association) | 0.470 |
| MUTYH | APEX1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MUTYH | POLL | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MUTYH | MSH2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| BAAT | MUTYH | psi-mi:“MI:0915”(physical association) | 0.370 |
| MSANTD3 | MUTYH | psi-mi:“MI:0915”(physical association) | 0.370 |
| MUTYH | TSTD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MUTYH | CYLC2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FANCC | MUTYH | psi-mi:“MI:0915”(physical association) | 0.370 |
| HRAS | MUTYH | psi-mi:“MI:0915”(physical association) | 0.370 |
| MUTYH | SEC61B | psi-mi:“MI:0915”(physical association) | 0.370 |
| MUTYH | SMAD1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TDRD7 | MUTYH | psi-mi:“MI:0915”(physical association) | 0.370 |
| MUTYH | XPA | psi-mi:“MI:0915”(physical association) | 0.370 |
| NME4 | PMPCB | psi-mi:“MI:0914”(association) | 0.350 |
| NME4 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXW7 | MUTYH | psi-mi:“MI:2364”(proximity) | 0.270 |
| SMAD4 | MUTYH | psi-mi:“MI:2364”(proximity) | 0.270 |
| MUTYH | SMARCA4 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SMARCA4 | MUTYH | psi-mi:“MI:2364”(proximity) | 0.270 |
| SPOP | MUTYH | psi-mi:“MI:2364”(proximity) | 0.270 |
| MUTYH | SPOP | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (50): AGTRAP (Two-hybrid), MUTYH (Affinity Capture-MS), MUTYH (Affinity Capture-MS), MUTYH (Two-hybrid), SIRT6 (Affinity Capture-Western), MUTYH (Affinity Capture-Western), Sirt6 (Reconstituted Complex), SIRT6 (Reconstituted Complex), RAD9A (Co-localization), RAD9A (Affinity Capture-Western), RAD9A (Reconstituted Complex), MUTYH (Affinity Capture-Western), MUTYH (Affinity Capture-Western), MUTYH (Affinity Capture-Western), MUTYH (Affinity Capture-Western)
ESM2 similar proteins: A0A1D6LAG9, A2RTX5, A6QLY4, A6QNM8, A7M7B9, A9S0B8, A9VB27, B9DFZ0, C1BM18, E2RDZ6, F4JCQ3, G3X8U3, O35980, O70157, O75879, P13051, P36776, P54137, P78549, P97931, Q09907, Q0V9S0, Q13472, Q2KID2, Q4KM92, Q4R380, Q59HJ6, Q5ZKD7, Q640B4, Q7SXA9, Q80UN9, Q80VY9, Q8BLY2, Q8BYM8, Q8CGK3, Q8K582, Q8R5G2, Q8SRB8, Q924S5, Q99JT1
Diamond homologs: A0R567, F4JRF4, O31584, P17802, P39788, P44320, P46230, P57617, P73715, P83847, P9WQ08, P9WQ09, Q05869, Q10159, Q58030, Q7LX22, Q89A45, Q8R5G2, Q99P21, Q9UIF7, Q9YDP0, Q8K926, Q9SIC4, B9DFZ0, P57219, P0AB83, P0AB84, P29588, P44319, Q9WYK0, Q89AW4, Q8KA16, P46303, Q4UK93, P54137, C8VC05, O83754, Q08214, Q0IGK1, Q9Z2D7
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MUTYH | up-regulates | ATR | binding |
| MUTYH | up-regulates | CHEK1 | |
| MUTYH | up-regulates | TOPBP1 | binding |
| MUTYH | up-regulates | Base-excision_repair |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 27 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 |
|---|---|---|---|
| positive regulation of miRNA transcription | 5 | 58.1× | 1e-05 |
| positive regulation of ERK1 and ERK2 cascade | 5 | 17.0× | 1e-03 |
| DNA repair | 5 | 12.8× | 3e-03 |
| negative regulation of cell population proliferation | 5 | 8.4× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
4186 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 184 |
| Likely pathogenic | 150 |
| Uncertain significance | 1900 |
| Likely benign | 1038 |
| Benign | 108 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1045946 | NM_001048174.2(MUTYH):c.764_772del (p.Met255_Gly258delinsArg) | Pathogenic |
| 1050536 | NM_001048174.2(MUTYH):c.1393-51_*2del | Pathogenic |
| 1068517 | NM_001048174.2(MUTYH):c.811C>T (p.Gln271Ter) | Pathogenic |
| 1069525 | NM_001048174.2(MUTYH):c.775dup (p.Ala259fs) | Pathogenic |
| 1070115 | NM_001048174.2(MUTYH):c.507del (p.Gly171fs) | Pathogenic |
| 1070581 | NM_001048174.2(MUTYH):c.148C>T (p.Gln50Ter) | Pathogenic |
| 1072128 | NM_001048174.2(MUTYH):c.1425del (p.Thr476fs) | Pathogenic |
| 1075894 | NM_001048174.2(MUTYH):c.310dup (p.Val104fs) | Pathogenic |
| 1076845 | NM_001048174.2(MUTYH):c.376_377del (p.Gln126fs) | Pathogenic |
| 127835 | NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) | Pathogenic |
| 1352487 | NM_001048174.2(MUTYH):c.409del (p.Ala137fs) | Pathogenic |
| 1356072 | NM_001128425.2(MUTYH):c.177_178insCA (p.Glu60fs) | Pathogenic |
| 1364709 | NM_001048174.2(MUTYH):c.924_925del (p.Gly309fs) | Pathogenic |
| 1368442 | NM_001048174.2(MUTYH):c.541C>T (p.Gln181Ter) | Pathogenic |
| 1374111 | NM_001048174.2(MUTYH):c.779_780del (p.Thr260fs) | Pathogenic |
| 1395788 | NM_001048174.2(MUTYH):c.136del (p.Glu46fs) | Pathogenic |
| 1408238 | NM_001048174.2(MUTYH):c.1276C>T (p.Gln426Ter) | Pathogenic |
| 140827 | NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter) | Pathogenic |
| 140876 | NM_001048174.2(MUTYH):c.856C>T (p.Gln286Ter) | Pathogenic |
| 141379 | NM_001048174.2(MUTYH):c.49del (p.Ala17fs) | Pathogenic |
| 142604 | NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) | Pathogenic |
| 143003 | NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) | Pathogenic |
| 1436665 | NM_001048174.2(MUTYH):c.300T>A (p.Tyr100Ter) | Pathogenic |
| 1441468 | NM_001048174.2(MUTYH):c.685del (p.Val230fs) | Pathogenic |
| 1452003 | NM_001048174.2(MUTYH):c.1160_1167dup (p.Lys390fs) | Pathogenic |
| 1454604 | NM_001048174.2(MUTYH):c.1185del (p.Glu395fs) | Pathogenic |
| 1455088 | NM_001048174.2(MUTYH):c.228C>G (p.Tyr76Ter) | Pathogenic |
| 1455631 | NM_001048174.2(MUTYH):c.684_702dup (p.Trp235fs) | Pathogenic |
| 1459595 | NM_001048174.2(MUTYH):c.627del (p.Asn210fs) | Pathogenic |
| 156509 | NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) | Pathogenic |
SpliceAI
2163 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:45329437:CCTG:C | acceptor_gain | 1.0000 |
| 1:45331222:T:TA | donor_gain | 1.0000 |
| 1:45331416:TTA:T | donor_loss | 1.0000 |
| 1:45331417:TACCT:T | donor_loss | 1.0000 |
| 1:45331418:A:AC | donor_gain | 1.0000 |
| 1:45331418:AC:A | donor_gain | 1.0000 |
| 1:45331418:ACCT:A | donor_gain | 1.0000 |
| 1:45331418:ACCTC:A | donor_gain | 1.0000 |
| 1:45331419:C:CT | donor_gain | 1.0000 |
| 1:45331419:CC:C | donor_gain | 1.0000 |
| 1:45331419:CCT:C | donor_gain | 1.0000 |
| 1:45331419:CCTC:C | donor_gain | 1.0000 |
| 1:45331419:CCTCC:C | donor_gain | 1.0000 |
| 1:45331552:CAGAC:C | acceptor_gain | 1.0000 |
| 1:45331553:AGAC:A | acceptor_gain | 1.0000 |
| 1:45331554:GAC:G | acceptor_gain | 1.0000 |
| 1:45331555:AC:A | acceptor_gain | 1.0000 |
| 1:45331556:CC:C | acceptor_gain | 1.0000 |
| 1:45331557:C:CC | acceptor_gain | 1.0000 |
| 1:45332164:A:AC | donor_gain | 1.0000 |
| 1:45332165:C:CC | donor_gain | 1.0000 |
| 1:45332165:CT:C | donor_gain | 1.0000 |
| 1:45332165:CTCT:C | donor_gain | 1.0000 |
| 1:45332168:T:A | donor_gain | 1.0000 |
| 1:45332246:G:C | donor_gain | 1.0000 |
| 1:45332308:CCC:C | acceptor_gain | 1.0000 |
| 1:45332309:CC:C | acceptor_gain | 1.0000 |
| 1:45332309:CCC:C | acceptor_gain | 1.0000 |
| 1:45332310:CC:C | acceptor_gain | 1.0000 |
| 1:45332758:CTTA:C | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000047665 (1:45336022 A>G), RS1000260695 (1:45329414 G>A), RS1000609513 (1:45331010 G>A), RS1000623040 (1:45330159 G>C), RS1001144609 (1:45339009 C>T), RS1001379309 (1:45334630 A>C), RS1001390252 (1:45330624 C>T), RS1001416500 (1:45330397 C>T), RS1001667829 (1:45336118 C>T), RS1002437652 (1:45332754 T>C), RS1002637086 (1:45342032 G>A), RS1002936745 (1:45337865 G>T), RS1002995018 (1:45342425 G>A,C), RS1003048107 (1:45336349 C>T), RS1003275266 (1:45338190 T>C)
Disease associations
OMIM: gene MIM:604933 | disease phenotypes: MIM:608456, MIM:613659, MIM:132600, MIM:175100, MIM:114500, MIM:614969, MIM:120435, MIM:114480, MIM:167000, MIM:607259, MIM:155255, MIM:608089
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| familial adenomatous polyposis 2 | Definitive | Autosomal recessive |
ClinGen Gene-Disease Validity (6)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| familial ovarian cancer | Disputed | AR |
| familial ovarian cancer | Disputed | AD |
| familial adenomatous polyposis 2 | Definitive | AR |
| hereditary breast carcinoma | Disputed | AR |
| colorectal cancer | Disputed | AD |
| hereditary breast carcinoma | Refuted | AD |
Mondo (36): familial adenomatous polyposis 2 (MONDO:0012041), hereditary neoplastic syndrome (MONDO:0015356), gastric cancer (MONDO:0001056), colon carcinoma (MONDO:0002032), hereditary breast ovarian cancer syndrome (MONDO:0003582), breast carcinoma (MONDO:0004989), polyp of large intestine (MONDO:0021392), medulloblastoma SHH activated and TP53 wild-type (MONDO:0956965), pilomatrixoma (MONDO:0007564), gastric neoplasm (MONDO:0021085), familial adenomatous polyposis 1 (MONDO:0021056), diffuse midline glioma, H3 K27-altered (MONDO:1060171), hepatoblastoma (MONDO:0018666), colorectal cancer (MONDO:0005575), familial colorectal cancer (MONDO:0023113)
Orphanet (21): Attenuated familial adenomatous polyposis (Orphanet:220460), MUTYH-related polyposis (Orphanet:247798), Inherited cancer-predisposing syndrome (Orphanet:140162), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Pilomatrixoma (Orphanet:91414), Hepatoblastoma (Orphanet:449), Pontocerebellar hypoplasia type 7 (Orphanet:284339), Familial colorectal cancer Type X (Orphanet:440437), Retinoblastoma (Orphanet:790), Lynch syndrome (Orphanet:144), Hereditary breast cancer (Orphanet:227535), Rare ovarian cancer (Orphanet:213500), Familial adenomatous polyposis (Orphanet:733), Spastic paraplegia type 7 (Orphanet:99013), Anaplastic/large cell medulloblastoma (Orphanet:251855)
HPO phenotypes
64 total (30 of 64 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000505 | Visual impairment |
| HP:0000708 | Atypical behavior |
| HP:0000716 | Depression |
| HP:0000737 | Irritability |
| HP:0000738 | Hallucinations |
| HP:0000739 | Anxiety |
| HP:0001123 | Visual field defect |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001260 | Dysarthria |
| HP:0001276 | Hypertonia |
| HP:0001288 | Gait disturbance |
| HP:0001371 | Flexion contracture |
| HP:0001402 | Hepatocellular carcinoma |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0001824 | Weight loss |
| HP:0002017 | Nausea and vomiting |
| HP:0002019 | Constipation |
| HP:0002024 | Malabsorption |
| HP:0002027 | Abdominal pain |
| HP:0002076 | Migraine |
| HP:0002167 | Abnormal speech pattern |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0002354 | Memory impairment |
| HP:0002376 | Developmental regression |
| HP:0002516 | Increased intracranial pressure |
| HP:0002671 | Basal cell carcinoma |
| HP:0002893 | Pituitary adenoma |
| HP:0002894 | Neoplasm of the pancreas |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008573_5 | Composite immunoglobulin trait (IgA/IgM) | 1.000000e-08 |
| GCST010726_80 | Periventricular white matter hyperintensities | 4.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005665 | white matter hyperintensity measurement |
MeSH disease descriptors (14)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003110 | Colonic Neoplasms | C04.588.274.476.411.307.180; C06.301.371.411.307.180; C06.405.249.411.307.180; C06.405.469.158.356.180; C06.405.469.491.307.180 |
| D004806 | Ependymoma | C04.557.465.625.600.380.290; C04.557.470.670.380.290; C04.557.580.625.600.380.290 |
| D018197 | Hepatoblastoma | C04.557.435.380 |
| D061325 | Hereditary Breast and Ovarian Cancer Syndrome | C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431 |
| D008527 | Medulloblastoma | C04.557.465.625.600.380.515; C04.557.465.625.600.590.500; C04.557.470.670.380.515; C04.557.470.670.590.500; C04.557.580.625.600.380.515; C04.557.580.625.600.590.500 |
| D009386 | Neoplastic Syndromes, Hereditary | C04.700; C16.320.700 |
| D010051 | Ovarian Neoplasms | C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705 |
| D018296 | Pilomatrixoma | C04.557.470.565.625 |
| D012175 | Retinoblastoma | C04.557.465.625.600.725; C04.557.470.670.725; C04.557.580.625.600.725; C04.588.364.818.760; C11.270.862; C11.319.475.760; C11.768.717.760 |
| D013274 | Stomach Neoplasms | C04.588.274.476.767; C06.301.371.767; C06.405.249.767; C06.405.748.789 |
| C562840 | Breast Cancer, Familial (supp.) | |
| C563924 | Colorectal Adenomatous Polyposis, Autosomal Recessive (supp.) | |
| C537261 | Lynch syndrome I (site-specific colonic cancer) (supp.) | |
| C564599 | Spastic Paraplegia 7, Autosomal Recessive (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5723574 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
2 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs3219484 | Toxicity | 3 | cisplatin;cyclophosphamide | Ovarian Neoplasms |
| rs3219489 | Efficacy | 3 | cisplatin;fluorouracil;radiotherapy | Carcinoma;Squamous Cell;Progression-free survival |
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs3219484 | MUTYH | 3 | 3.00 | 1 | cisplatin;cyclophosphamide |
| rs3219489 | MUTYH | 3 | 3.75 | 1 | cisplatin;fluorouracil;radiotherapy |
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | decreases expression | 1 |
| myristicin | decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| beta-lapachone | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium bromate | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| pinostrobin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Arsenic Trioxide | affects activity | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Ethanol | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Carbon Tetrachloride | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 functional
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5665446 | Functional | Inhibition of MUTYH by quantifying inhibition of MUTYH-mediated cleavage and dissociation of quenched duplex DNA oligonucleotides, measured as fluorescence at 594 nm. To generate a functional strand incision and increase turn-over this assa | Enzyme Inhibitor Single Concentration assay results for EUbOPEN Chemogenomics Library |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A1TT | JIL-2266 | Cancer cell line | Female |
| CVCL_B6PT | Jacket | Cancer cell line | Male |
| CVCL_E0IJ | Ubigene HeLa MUTYH KO | Cancer cell line | Female |
| CVCL_SZ48 | HAP1 MUTYH (-) 1 | Cancer cell line | Male |
| CVCL_SZ49 | HAP1 MUTYH (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00365508 | PHASE4 | COMPLETED | Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking |
| NCT00558155 | PHASE4 | COMPLETED | The Impact of Immunostimulating Nutrition on the Outcome of Surgery |
| NCT00576940 | PHASE4 | COMPLETED | Standard and Immunostimulating Enteral Nutrition in Surgical Patients |
| NCT00666978 | PHASE4 | COMPLETED | Health Education Counseling With or Without Bupropion in Helping African Americans Stop Smoking |
| NCT01038154 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy of Pravastatin on Survival and Recurrence of Advanced Gastroesophageal Cancer |
| NCT01234272 | PHASE4 | COMPLETED | Comparison of the Analgesic Effect Between Intrathecal Morphine and IV-fentanyl Patient Controlled Analgesia (ITM-IVPCA) and Epidural PCA (PCEA) in Patients Undergoing Gastrectomy -Randomized Allocation Study- |
| NCT01260194 | PHASE4 | TERMINATED | A Study of Herceptin (Trastuzumab) in Combination With Standard Chemotherapy in Patients With HER Positive Metastatic Gastric Cancer |
| NCT01271582 | PHASE4 | UNKNOWN | Investigation of Association Between UGT1A1 Polymorphisms and Irinotecan Toxicity in Korean Patients |
| NCT01401075 | PHASE4 | COMPLETED | RCT With Adjuvant Mistletoe Treatment in Gastric Cancer Patients |
| NCT01471756 | PHASE4 | COMPLETED | Improving Complete Endoscopic Mucosal Resection (EMR) of Colorectal Neoplasia |
| NCT01766765 | PHASE4 | UNKNOWN | Early Jejunostomy Nutrition Minimizes Time to Chemotherapy |
| NCT01910948 | PHASE4 | UNKNOWN | Perioperative Application of Omega-3 Polyunsaturated Fatty Acids in Gastric Cancer Patients |
| NCT01927328 | PHASE4 | UNKNOWN | Iron Replacement in Oesophagogastric Neoplasia |
| NCT01962272 | PHASE4 | COMPLETED | The Effect of Nutritional Counseling for Cancer Patients |
| NCT01962376 | PHASE4 | UNKNOWN | Preoperative Chemotherapy With Bevacizumab For Potentially Resectable Gastric Cancer With Liver Metastasis |
| NCT02047994 | PHASE4 | RECRUITING | Multicentric Randomized Study of H. Pylori Eradication and Pepsinogen Testing for Prevention of Gastric Cancer Mortality |
| NCT02235246 | PHASE4 | COMPLETED | The Effect of Perioperative Intravenous Magnesium on Pain After Endoscopic Submucosal Dissection for Gastric Neoplasm: Prospective Randomized Double-blind Placebo Controlled Study |
| NCT02366819 | PHASE4 | SUSPENDED | Genetic Analysis-Guided Irinotecan Hydrochloride Dosing of mFOLFIRINOX in Treating Patients With Locally Advanced Gastroesophageal or Stomach Cancer |
| NCT02401971 | PHASE4 | UNKNOWN | Irinotecan Plus Thalidomide in Second Line Advanced Gastric Cancer |
| NCT02458573 | PHASE4 | COMPLETED | Comparison of the Effects of Continuous Epidural Analgesia and Continuous Intravenous Analgesia on Postoperative Bowel Movement in Patients Undergoing Laparoscopic Gastrectomy |
| NCT02638584 | PHASE4 | COMPLETED | Effects of Ilaprazole on Ulcer Healing Rate and Prevention of Gastrointestinal Bleeding in the Patients Undergone ESD. |
| NCT02776527 | PHASE4 | UNKNOWN | A Clinical Trial of Maintenance Treatment of Apatinib in Advanced Gastric Cancer Patients Have Completed Postoprative Adjuvant Chemotherapy |
| NCT03384511 | PHASE4 | COMPLETED | The Use of 18F-ALF-NOTA-PRGD2 PET/CT Scan to Predict the Efficacy and Adverse Events of Apatinib in Malignancies. |
| NCT03550482 | PHASE4 | COMPLETED | Oncoxin® and Quality of Life in Cancer Patients |
| NCT03609892 | PHASE4 | COMPLETED | Helicobacter Rescue Therapy With Berberine Plus Amoxicillin Quadruple Therapy Versus Tetracycline Plus Furazolidone Quadruple Therapy |
| NCT03642093 | PHASE4 | UNKNOWN | HOPE - A Study to Evaluate the Effect of a Prehabilitation Program on GI Cancer Patients Planning to Undergo Surgery |
| NCT03733639 | PHASE4 | UNKNOWN | Tisseel® as a Reinforcement of Esophagojejunal Anastomoses |
| NCT04168346 | PHASE4 | NOT_YET_RECRUITING | Preoperative Intravenous Iron Therapy in Patients With Gastric Cancer |
| NCT04209933 | PHASE4 | COMPLETED | Helicobacter Pylori Eradication With Different Bismuth Quadruple Therapies |
| NCT04591028 | PHASE4 | WITHDRAWN | A Study to Evaluate Indocyanine Green Lymphangiography to Improve Lymphadenectomy in Gastric Cancer Patients |
| NCT04607057 | PHASE4 | UNKNOWN | Supplemental Parenteral Nutrition During Postgastrectomy in Nutritionally at Risk Patient |
| NCT04660123 | PHASE4 | COMPLETED | A Real World Study of Bismuth Colloidal Pectin Granules Quadruple Therapy for H. Pylori Eradication |
| NCT04678492 | PHASE4 | COMPLETED | Helicobacter Rescue Therapy With High-dose Esomeprazole and Amoxicillin Dual Therapy Versus Bismuth-containing Quadruple Therapy |
| NCT04697186 | PHASE4 | COMPLETED | Helicobacter Pylori Eradication With Berberine Plus Amoxicillin Triple Therapy Versus Bismuth-containing Quadruple Therapy |
| NCT05029453 | PHASE4 | UNKNOWN | Apatinib Combined With Chemotherapy Versus Chemotherapy in Second-line Gastric Cancer Receiving Prior Anti-PD-1 Therapy |
| NCT05183126 | PHASE4 | RECRUITING | Pharmacokinetic Study of Skeletal Muscle Area-based Paclitaxel Infusion in Patients With Cancer |
| NCT05354856 | PHASE4 | TERMINATED | The Effect of Chemoradiotherapy on Gastric Perfusion in Patients With Gastric Cancer. |
| NCT05410535 | PHASE4 | COMPLETED | To Evaluate Efficacy of Ursodeoxycholic Acid (UDCA) for the Prevention of Gallstone Formation After Gasterectomy |
| NCT05498766 | PHASE4 | NOT_YET_RECRUITING | Effect and Safety of Huaier Granule Versus SOX Regimen in Gastric Cancer Patients |
| NCT05518929 | PHASE4 | COMPLETED | Hypoxia During Gastroenterological Endoscope Procedures Sedated With Ciprofol In Overweight Or Obesity Patients |
Related Atlas pages
- Associated diseases: familial adenomatous polyposis 2, familial ovarian cancer, hereditary breast carcinoma, colorectal carcinoma
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anaplastic/large cell medulloblastoma, classic familial adenomatous polyposis, colon carcinoma, colonic neoplasm, diffuse midline glioma, H3 K27-altered, dysembryoplastic neuroepithelial tumor, endometrial cancer, ependymoma, familial adenomatous polyposis 1, familial adenomatous polyposis 2, familial colorectal cancer, familial colorectal cancer type X, gastric cancer, gastric neoplasm, hepatoblastoma, hereditary breast carcinoma, hereditary spastic paraplegia 7, infant-type hemispheric glioma, Lynch syndrome 1, malignant colon neoplasm, medulloblastoma, medulloblastoma SHH activated and TP53 wild-type, pilocytic astrocytoma, pilomatrixoma, pleomorphic xanthoastrocytoma BRAF mutant, polyp of large intestine, pontocerebellar hypoplasia type 7, retinoblastoma