PMS2 - PMS1 homolog 2, mismatch repair system component Gene

Also Known as MLH4; PMS-2; PMSL2; HNPCC4; LYNCH4; MMRCS4; PMS2CL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5395

About PMS2

Cytogenetic location: 7p22.1 Genomic coordinates (GRCh38): 7:5,970,925-6,009,106 (from NCBI)

This gene has 71 transcripts (splice variants), 210 orthologues, 3 paralogues and is associated with 97 phenotypes. Ubiquitous expression in brain (RPKM 6.7), thyroid (RPKM 5.5) and 25 other tissues.

Summary

The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal Cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]

PMS2 Products (60)

mRNA	Protein	Name
NM_000535.7	NP_000526.2	mismatch repair endonuclease PMS2 isoform a
NM_001322003.2	NP_001308932.1	mismatch repair endonuclease PMS2 isoform b
NM_001322004.2	NP_001308933.1	mismatch repair endonuclease PMS2 isoform b
NM_001322005.2	NP_001308934.1	mismatch repair endonuclease PMS2 isoform b
NM_001322006.2	NP_001308935.1	mismatch repair endonuclease PMS2 isoform c
NM_001322007.2	NP_001308936.1	mismatch repair endonuclease PMS2 isoform d
NM_001322008.2	NP_001308937.1	mismatch repair endonuclease PMS2 isoform d
NM_001322009.2	NP_001308938.1	mismatch repair endonuclease PMS2 isoform e
NM_001322010.2	NP_001308939.1	mismatch repair endonuclease PMS2 isoform f
NM_001322011.2	NP_001308940.1	mismatch repair endonuclease PMS2 isoform g
NM_001322012.2	NP_001308941.1	mismatch repair endonuclease PMS2 isoform g
NM_001322013.2	NP_001308942.1	mismatch repair endonuclease PMS2 isoform h
NM_001322014.2	NP_001308943.1	mismatch repair endonuclease PMS2 isoform i
NM_001322015.2	NP_001308944.1	mismatch repair endonuclease PMS2 isoform j
NM_001406866.1	NP_001393795.1	mismatch repair endonuclease PMS2 isoform k
NM_001406868.1	NP_001393797.1	mismatch repair endonuclease PMS2 isoform l
NM_001406869.1	NP_001393798.1	mismatch repair endonuclease PMS2 isoform m
NM_001406870.1	NP_001393799.1	mismatch repair endonuclease PMS2 isoform n
NM_001406871.1	NP_001393800.1	mismatch repair endonuclease PMS2 isoform o
NM_001406872.1	NP_001393801.1	mismatch repair endonuclease PMS2 isoform p
NM_001406873.1	NP_001393802.1	mismatch repair endonuclease PMS2 isoform r
NM_001406874.1	NP_001393803.1	mismatch repair endonuclease PMS2 isoform q
NM_001406875.1	NP_001393804.1	mismatch repair endonuclease PMS2 isoform s
NM_001406876.1	NP_001393805.1	mismatch repair endonuclease PMS2 isoform t
NM_001406877.1	NP_001393806.1	mismatch repair endonuclease PMS2 isoform j
NM_001406878.1	NP_001393807.1	mismatch repair endonuclease PMS2 isoform j
NM_001406879.1	NP_001393808.1	mismatch repair endonuclease PMS2 isoform j
NM_001406880.1	NP_001393809.1	mismatch repair endonuclease PMS2 isoform j
NM_001406881.1	NP_001393810.1	mismatch repair endonuclease PMS2 isoform j
NM_001406882.1	NP_001393811.1	mismatch repair endonuclease PMS2 isoform j
NM_001406883.1	NP_001393812.1	mismatch repair endonuclease PMS2 isoform d
NM_001406884.1	NP_001393813.1	mismatch repair endonuclease PMS2 isoform u
NM_001406885.1	NP_001393814.1	mismatch repair endonuclease PMS2 isoform v
NM_001406886.1	NP_001393815.1	mismatch repair endonuclease PMS2 isoform w
NM_001406887.1	NP_001393816.1	mismatch repair endonuclease PMS2 isoform e
NM_001406888.1	NP_001393817.1	mismatch repair endonuclease PMS2 isoform e
NM_001406889.1	NP_001393818.1	mismatch repair endonuclease PMS2 isoform b
NM_001406890.1	NP_001393819.1	mismatch repair endonuclease PMS2 isoform b
NM_001406891.1	NP_001393820.1	mismatch repair endonuclease PMS2 isoform b
NM_001406892.1	NP_001393821.1	mismatch repair endonuclease PMS2 isoform b
NM_001406893.1	NP_001393822.1	mismatch repair endonuclease PMS2 isoform b
NM_001406894.1	NP_001393823.1	mismatch repair endonuclease PMS2 isoform b
NM_001406895.1	NP_001393824.1	mismatch repair endonuclease PMS2 isoform b
NM_001406896.1	NP_001393825.1	mismatch repair endonuclease PMS2 isoform b
NM_001406897.1	NP_001393826.1	mismatch repair endonuclease PMS2 isoform b
NM_001406898.1	NP_001393827.1	mismatch repair endonuclease PMS2 isoform b
NM_001406899.1	NP_001393828.1	mismatch repair endonuclease PMS2 isoform b
NM_001406900.1	NP_001393829.1	mismatch repair endonuclease PMS2 isoform y
NM_001406901.1	NP_001393830.1	mismatch repair endonuclease PMS2 isoform z
NM_001406902.1	NP_001393831.1	mismatch repair endonuclease PMS2 isoform z
NM_001406903.1	NP_001393832.1	mismatch repair endonuclease PMS2 isoform aa
NM_001406904.1	NP_001393833.1	mismatch repair endonuclease PMS2 isoform bb
NM_001406905.1	NP_001393834.1	mismatch repair endonuclease PMS2 isoform bb
NM_001406906.1	NP_001393835.1	mismatch repair endonuclease PMS2 isoform f
NM_001406907.1	NP_001393836.1	mismatch repair endonuclease PMS2 isoform f
NM_001406908.1	NP_001393837.1	mismatch repair endonuclease PMS2 isoform ff
NM_001406909.1	NP_001393838.1	mismatch repair endonuclease PMS2 isoform h
NM_001406910.1	NP_001393839.1	mismatch repair endonuclease PMS2 isoform cc
NM_001406911.1	NP_001393840.1	mismatch repair endonuclease PMS2 isoform dd
NM_001406912.1	NP_001393841.1	mismatch repair endonuclease PMS2 isoform ee

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	10871409	GOA
contributes to MutSalpha complex binding	IDA IDA: Inferred from direct assay	16403449	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11292842	GOA
enables single base insertion or deletion binding	IDA IDA: Inferred from direct assay	10871409	GOA
contributes to single-stranded DNA binding	IDA IDA: Inferred from direct assay	11809883	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mismatch repair	IDA IDA: Inferred from direct assay	10871409	GOA
involved in mismatch repair	IMP IMP: Inferred from mutant phenotype	9618520	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	23709753	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PMS2 Protein Structure

HATPase_c_3

DNA_mis_repair

MutL_C

0
200
400
600
800
862 a.a.

Protein Preferred Names	Protein Names
mismatch repair endonuclease PMS2	DNA mismatch repair protein PMS2

PMS2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PMS2	P54278	MLH1	Homo sapiens	P40692	Y2H Array	31515488
Intra	PMS2	P54278	MLH1	Homo sapiens	P40692	Y2H Array	12810663
Intra	PMS2	P54278	MLH1	Homo sapiens	P40692	Pull Down	11292842
Intra	PMS2	P54278	MLH1	Homo sapiens	P40692	Anti Tag CoIP	26496610
Intra	PMS2	P54278	MLH1	Homo sapiens	P40692	Y2H	25502805
Intra	PMS2	P54278	MLH1	Homo sapiens	P40692	Y2H	20706999
Intra	PMS2	P54278	MLH1	Homo sapiens	P40692	Anti Bait CoIP	20533529
Intra	PMS2	P54278	MLH1	Homo sapiens	P40692	Pull Down	11793469
Intra	PMS2	P54278	MLH1	Homo sapiens	P40692	Pull Down	12810663

Cross: Cross-species interaction Intra: Intraspecies interaction

PMS2 Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P82027	PMS2 Antibody (YA1772)	WB, IHC-P, ICC/IF	Human
HY-P84391	PMS2 Antibody (YA4088)	WB, ICC/IF, FC, ELISA	Human
HY-P84391A	PMS2 Antibody (YA4088)(PBS only)	WB, ICC/IF, FC, ELISA	Human
HY-P84392	PMS2 Antibody (YA4089)	WB, IHC-P, FC, ELISA	Human
HY-P84392A	PMS2 Antibody (YA4089)(PBS only)	WB, IHC-P, FC, ELISA	Human
HY-P86648	PMS2 Antibody (YA6340)	WB, IHC-P, ICC/IF, IP, ELISA	Human

Related Diseases

Diseases	Alias
Mismatch Repair Cancer Syndrome 4	MMRCS4
Colorectal Cancer, Hereditary Nonpolyposis, Type 4	HNPCC4 Hereditary Nonpolyposis Colorectal Cancer Type 4 Hereditary Non-Polyposis Colorectal Cancer 4 Cancer, Colorectal, Nonpolyposis, Hereditary, Type 4
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Mismatch Repair Cancer Syndrome 1	Turcot Syndrome Constitutional Mismatch Repair Deficiency Syndrome Mismatch Repair Deficiency Mmr Deficiency MMRCS1 Cmmrds Childhood Cancer Syndrome Brain Tumor-Polyposis Syndrome 1 Btps1 Btp1 Syndrome Mismatch Repair Cancer Syndrome Childhood Cancer Brain Tumor-Polyposis Syndrome Cns Tumors With Familial Polyposis Of The Colon Glioma-Polyposis Syndrome Mmrcs Malignant Tumors Of The Central Nervous System Associated With Familial Polyposis Of The Colon Biallelic Mismatch Repair Deficiency Syndrome Bmmrd Cmmr-D Syndrome
Lymphoma	Lymphoid Cancer Lymphomas Lymphoid Cancers Lymphoid Neoplasm Lymphoma Nos Nhl - [Non-Hodgkin Lymphoma] Non-Hodgkin Lymphoma Non-Hodgkin Lymphoma, Nos Non-Hodgkin Malignant Lymphoma Nos
Burkitt Lymphoma	Burkitt'S Lymphoma BL Burkitt Lymphoma, Somatic Burkitt Lymphoma/Leukaemia Burkitt'S Tumor Burkitt'S Tumor Or Lymphoma Malignant Lymphoma, Burkitt'S Type Small Non-Cleaved Cell Lymphoma, Burkitt'S Type Small Non-Cleaved Cell Lymphoma Burkitt Tumor Burkitts Lymphoma Lymphoma, Small Noncleaved-Cell Burkitt Tumour Diffuse Small Noncleaved Malignant Burkitt Lymphoma Malignant Burkitt Lymphoma “Burkitt-Like” Lymphoma Undifferentiated Burkitt Lymphoma Small Noncleaved Cell Burkitt Lymphoma
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Lynch Syndrome I	Lynch Syndrome 1 Colorectal Cancer, Hereditary Nonpolyposis, Type 1 HNPCC1 Fcc1 Lynch Syndrome Ii Colon Cancer, Familial Nonpolyposis, Type 1 Coca1 Familial Nonpolyposis Colon Cancer Type 1 Hereditary Nonpolyposis Colorectal Cancer Type 1 Hereditary Non-Polyposis Colorectal Cancer 1 Hereditary Non-Polyposis Colorectal Cancer 3 Hnpcc3 Lynch Cancer Family Syndrome Lynch Syndrome Lynch Syndrome Type I Lynch Syndrome Type Ii Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1 Hereditary Nonpolyposis Colorectal Cancer Colorectal Cancer, Hereditary Nonpolyposis, Type 3 Hereditary Non-Polyposis Colon Cancer Type 2
Tumor Predisposition Syndrome 1	TPDS1 Tumor Predisposition Syndrome TPDS
Rhabdomyosarcoma
Endometrial Cancer	Endometrial Carcinoma Endometrial Neoplasm Malignant Neoplasm Of Endometrium Endometrioid Carcinoma Endometrial Neoplasms Carcinoma, Endometrioid Endometrial Cancer, Familial Endometrial Carcinoma, Somatic Endometrial Cancer, Susceptibility To Endometrial Ca Malignant Endometrial Neoplasm Neoplasm Of Endometrium Primary Malignant Neoplasm Of Endometrium Tumor Of Endometrium Carcinoma Of The Endometrium Endometrioid Carcinoma Of Female Reproductive System ENDMC Carcinoma Endometrioid Endometrial Cancers Cancer, Endometrial Uterine Corpus Cancer
Pulmonary Hypertension, Primary, 1	Pulmonary Arterial Hypertension Pah Idiopathic Pulmonary Arterial Hypertension Idiopathic Pulmonary Hypertension Primary Pulmonary Hypertension PPH1 Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht Pph Familial Primary Pulmonary Hypertension Sporadic Primary Pulmonary Hypertension Pht Fpah Familial Pulmonary Arterial Hypertension Hereditary Pulmonary Arterial Hypertension Heritable Pulmonary Arterial Hypertension Ayerza Syndrome Fpph Ppht Ipah Primary Pulmonary Arterial Hypertension Pulmonary Hypertension, Familial Primary Hypertension, Pulmonary, Primary, Type 1 Ayerza'S Syndrome Pah - [Pulmonary Arterial Hypertension] Arrillaga Ayerza Syndrome
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Pituitary Cancer	Pituitary Carcinoma Malignant Pituitary Neoplasm Malignant Tumor Of Pituitary Gland Neoplasm Of Pituitary Gland Pituitary Gland Cancer Pituitary Gland Neoplasm Pituitary Neoplasm Carcinoma Of The Pituitary Gland Neoplasm Of The Pituitary Gland Pituitary Neoplasms Malignant Neoplasm Of Pituitary Gland
Mismatch Repair Cancer Syndrome	Turcot Syndrome Brain Tumor-Polyposis Syndrome 1 Btp1 Syndrome Btps1 Childhood Cancer Syndrome Cmmr-D Syndrome Cmmrds Constitutional Mismatch Repair Deficiency Syndrome Mmr Deficiency Cancer Syndrome, Mismatch Repair Malignant Childhood Neoplasm
Small Intestine Cancer	Small Intestine Carcinoma Cancer Of The Small Bowel Small Bowel Cancer Small Intestinal Carcinoma Malignant Neoplasms Of The Small Intestine Small Bowel Tumors Malignant Tumor Of Small Intestine Neoplasm Of Small Intestine
Muir-Torre Syndrome	MRTES Keratoacanthoma Muir-Torré Syndrome Cutaneous Sebaceous Neoplasms And Keratoacanthomas, Multiple, With Gastrointestinal And Other Carcinomas Cutaneous Sebaceous Neoplasms And Keratoacanthomas Multiple With Gastrointestinal And Other Carcinomas Multiple Keratoacanthoma, Muir-Torre Type Mts Torre-Muir Syndrome
Neurofibromatosis	Neurofibromatoses Acoustic Neurofibromatosis Central Neurofibromatosis Peripheral Neurofibromatosis Recklinghausen'S Neurofibromatosis Von Reklinghausen Disease Neurofibromatosis Type 1
Adenosquamous Colon Carcinoma	Adenosquamous Carcinoma Of Colon Colonic Adenosquamous Carcinoma Colon Adenosquamous Carcinoma
Sebaceous Adenocarcinoma	Sebaceous Carcinoma Adenocarcinoma Of The Sebaceous Gland Malignant Neoplasm Of Sebaceous Gland Malignant Sebaceous Tumor Adenocarcinoma, Sebaceous Malignant Sebaceous Neoplasm Sebaceous Gland Neoplasms
Duodenum Adenocarcinoma	Duodenal Adenocarcinoma
Extrahepatic Bile Duct Adenoma	Adenoma Of Extrahepatic Bile Duct Adenoma Of The Extrahepatic Bile Duct
Sebaceous Gland Neoplasm	Sebaceous Gland Neoplasms Sebaceous Neoplasm
Spindle Cell Intraocular Melanoma	Uveal Spindle Cell Melanoma
Sebaceous Adenoma	Adenoma Of The Sebaceous Gland Skin Appendage Sebaceous Adenoma
Neurofibromatosis, Type I	Von Recklinghausen Disease Neurofibromatosis 1 Neurofibromatosis, Type 1 NF1 Neurofibromatosis, Peripheral Type Neurofibromatosis Type I Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion Familial Spinal Neurofibromatosis Fsnf Peripheral Neurofibromatosis Von Recklinghausen'S Neurofibromatosis Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion Neurofibromatosis Peripheral Type Von Recklinghausen Syndrome Neurofibromatosis Type 1 Von Recklinghausen Neuropathy Nf1 - [Neurofibromatosis Type 1] Recklinghausen Disease
Descending Colon Cancer	Ca Descending Colon Malignant Neoplasm Of Left Colon Malignant Tumor Of Descending Colon Malignant Neoplasm Of Descending Colon
Cecum Carcinoma	Cecum Cancer Caecum Carcinoma Carcinoma Of Cecum Cecal Cancer Malignant Neoplasm Of Caecum Malignant Tumor Of The Cecum
Rectosigmoid Cancer	Rectosigmoid Junction Cancer Malignant Neoplasm Of Rectosigmoid Junction Malignant Neoplasm Of Rectosigmoid Malignant Rectosigmoid Tumor Malignant Tumor Of Rectosigmoid Junction
Familial Adenomatous Polyposis 2	Mutyh-Related Attenuated Familial Adenomatous Polyposis FAP2 Colorectal Adenomatous Polyposis, Autosomal Recessive Adenomas, Multiple Colorectal Mutyh-Associated Polyposis Mutyh-Related Attenuated Familial Polyposis Coli Mutyh-Related Attenuated Fap Adenomas, Multiple Colorectal, Autosomal Recessive Mutyh-Related Afap Adenomas Multiple Colorectal Autosomal Recessive Colorectal Adenomatous Polyposis Autosomal Recessive Adenomatous Polyposis, Familial, Type 2
Gastrointestinal Adenoma	Gi Adenoma Digestive System Adenoma
Appendix Carcinoid Tumor	Appendix Carcinoid Endocrine Tumour Carcinoid Tumor Of Appendix
Jejunal Cancer	Jejunal Neoplasms Malignant Neoplasm Of Jejunum Malignant Tumor Of Jejunum
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Juvenile Polyposis Syndrome	JPS Juvenile Intestinal Polyposis Jip Pji Juvenile Gastrointestinal Polyposis Juvenile Polyposis Polyposis, Juvenile Intestinal Polyposis, Familial, Of Entire Gastrointestinal Tract Polyposis Familial Of Entire Gastrointestinal Tract Polyposis Juvenile Intestinal Polyposis Syndrome, Juvenile
Renal Pelvis Carcinoma	Malignant Neoplasm Of Renal Pelvis Malignant Tumor Of Renal Pelvis Carcinoma Of Kidney Pelvis Malignant Renal Pelvis Neoplasm Renal Pelvis Cancer
Familial Adenomatous Polyposis	Adenomatous Polyposis Coli Fap Familial Polyposis Coli Familial Multiple Polyposis Syndrome Adenomatous Polyposis Of The Colon Familial Intestinal Polyposis Fpc Familial Adenomatous Polyposis Of The Colon Familial Multiple Polyposis Familial Polyposis Of The Colon Hereditary Polyposis Coli Polyposis, Adenomatous Intestinal Adenomatous Familial Polyposis Adenomatous Familial Polyposis Syndrome Myh-Associated Polyposis Colorectal Adenomatous Polyposis Adenomatous Polyposis, Familial Mutyh-Associate Polyposis
Transverse Colon Cancer	Malignant Neoplasm Of Transverse Colon Ca Transverse Colon Malignant Tumor Of Transverse Colon Carcinoma Transverse Colon Nos
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Jejunal Adenocarcinoma
Cowden Syndrome 1	Bannayan-Riley-Ruvalcaba Syndrome Pten Hamartoma Tumor Syndrome Lhermitte-Duclos Disease Bannayan-Zonana Syndrome Phts Riley-Smith Syndrome Bzs Ruvalcaba-Myhre-Smith Syndrome Multiple Hamartoma Syndrome Rmss Brrs Dysplastic Gangliocytoma Of The Cerebellum CWS1 Cs Cd Mham Pten Hamartoma Tumor Syndrome With Granular Cell Tumor Macrocephaly Multiple Lipomas And Hemangiomata Bannayan-Ruvalcaba-Riley Syndrome Myhre-Riley-Smith Syndrome LDD Cerebelloparenchymal Disorder Vi Hamartoma Syndrome, Multiple Bbrs Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata Macrocephaly, Multiple Lipomas, And Hemangiomata Macrocephaly Pseudopapilledema And Multiple Hemangiomas Ruvalcaba -Myhre-Smith Syndrome Ruvalcaba-Myhre Syndrome Cowden Disease Macrocephaly Pseudopapilledema And Multiple Hemangiomata Cerebellar Granule Cell Hypertrophy And Megalencephaly Cpd6 Pten Hamartoma Tumor Syndromes Cowden Syndrome, Type 1
Ascending Colon Cancer	Malignant Tumor Of Ascending Colon Ca Ascending Colon Malignant Neoplasm Of Right Colon Malignant Neoplasm Of Ascending Colon
Periampullary Adenoma
Female Reproductive Endometrioid Cancer	Endometrioid Tumor Endometrioid Neoplasm Female Reproductive Endometrioid Neoplasm
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Fallopian Tube Serous Adenocarcinoma
Oligodendroglioma	Oligodendroglial Neoplasm Oligodendroglial Tumor Oligodendroglial Tumors Well Differentiated Oligodendroglioma
Diffuse Gastric And Lobular Breast Cancer Syndrome	Hereditary Diffuse Gastric Cancer HDGC LBC Familial Diffuse Gastric Cancer Fdgc Hereditary Diffuse Gastric Adenocarcinoma Breast Cancer, Lobular Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate DGLBC Gastric Cancer, Hereditary Diffuse Gastric Cancer, Familial Diffuse Breast Cancer, Lobular Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate E-Cadherin-Associated Hereditary Gastric Cancer Familial Diffuse Cancer Of Stomach Hereditary Diffuse Cancer Of Stomach Gastric Cancer Familial Diffuse Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate Cancer, Gastric, Hereditary Diffuse
Colorectal Cancer, Hereditary Nonpolyposis, Type 6	HNPCC6 Hereditary Nonpolyposis Colorectal Cancer Type 6 Colon Cancer, Hereditary Nonpolyposis, Type 6 Hereditary Non-Polyposis Colorectal Cancer 6 Cancer, Colorectal, Nonpolyposis, Hereditary, Type 6
Dysplastic Nevus Syndrome	Familial Atypical Multiple Mole-Melanoma Familial Atypical Multiple Mole Melanoma Syndrome Melanoma-Pancreatic Cancer Syndrome Famm Syndrome B-K Mole Syndrome Famm-Pc Syndrome Fammm Syndrome Familial Atypical Mole Syndrome Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome Familial Dysplastic Nevus Syndrome Familial Atypical Multiple Mole Melanoma Dysplastic Nevus Familial Atypical Mole Melanoma Syndrome
Duodenum Cancer	Duodenal Cancer Duodenal Neoplasms Cancer Of Duodenum Duodenal Neoplasm Duodenal Carcinoma Cancer, Duodenal Malignant Neoplasm Of Duodenum
Rectum Signet Ring Adenocarcinoma	Signet Ring Cell Adenocarcinoma Of Rectum
Familial Adenomatous Polyposis 1	Gardner Syndrome Brain Tumor-Polyposis Syndrome 2 Familial Polyposis Of The Colon Adenomatous Polyposis Coli FAP1 Adenomatous Polyposis Of The Colon Apc Fpc Gardner'S Syndrome Polyposis, Adenomatous Intestinal Adenoma, Periampullary, Somatic Intestinal Polyposis, Osteomas, Sebaceous Cysts Polyposis Coli And Multiple Hard And Soft Tissue Tumors Apc-Related Attenuated Familial Adenomatous Polyposis Apc-Related Afap Apc-Related Attenuated Fap Apc-Related Attenuated Familial Polyposis Coli Turcot Syndrome With Polyposis Gardners Syndrome Adenomatous Polyposis Coli, Susceptibility To Adenomatous Polyposis, Familial, Type 1
Mucinous Adenocarcinoma	Mucin-Producing Adenocarcinoma Mucin-Secreting Adenocarcinoma Mucin-Secreting Carcinoma Mucous Carcinoma Pseudomyxoma Peritonei With Unknown Primary Site Adenocarcinoma, Mucinous
Diffuse Gastric Cancer	Hereditary Diffuse Gastric Adenocarcinoma Hereditary Diffuse Gastric Cancer Signet Cell Adenocarcinoma Signet Ring Cell Carcinoma Signet Ring Cell Gastric Carcinoma Signet Ring Gastric Carcinoma Fdgc Familial Diffuse Cancer Of Stomach Familial Diffuse Gastric Cancer Gastric Cancer, Familial Diffuse Gastric Cancer, Hereditary Diffuse Hdgc Hereditary Diffuse Cancer Of Stomach Diffuse Gastric Cancer Syndrome Cancer, Gastric, Diffuse Carcinoma, Signet Ring Cell Gastric Signet Ring Carcinoma
Duodenum Disease	Duodenal Diseases Duodenal Disease Duodenum Disorder
Signet Ring Cell Adenocarcinoma	Signet Ring Cell Carcinoma Carcinoma, Signet Ring Cell Signet Ring Carcinoma Carcinoma Signet Ring Cell
Brain Cancer	Adult Brain Tumor Malignant Neoplasm Of Brain Brain Neoplasms Brain Neoplasm Neoplasm Of Brain Primary Malignant Neoplasm Of Brain Brain Tumors Adult Malignant Brain Neoplasm Brain Neoplasm, Adult Bt - Brain Tumour Malignant Brain Tumour Malignant Primary Brain Neoplasm Malignant Primary Brain Tumor Malignant Tumor Of Adult Brain Malignant Tumor Of Brain Primary Brain Neoplasm Primary Brain Tumor Tumor Of The Brain Brain Tumor, Adult Brain Tumor Primary Malignant Primary Brain Tumors Primary Brain Tumors Cancer, Brain Brain Tumor, Primary
Gastric Body Carcinoma	Cancer Of Body Of Stomach Carcinoma Of Body Of Stomach
Hereditary Mixed Polyposis Syndrome	Hmps
Colorectal Adenoma	Colorectal Adenomas Adenoma Of Large Intestine
Li-Fraumeni Syndrome	Sarcoma Family Syndrome Of Li And Fraumeni Sbla Syndrome LFS Li-Fraumeni Familiar Cancer Susceptibility Syndrome Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome Lfs1 Li Fraumeni Syndrome Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome Lfl Sbla Syndrome Li-Fraumeni-Like Syndrome Li-Fraumeni Syndrome 1
Villous Adenoma	Adenoma Villous Adenoma, Villous
Endometrial Adenocarcinoma	Endometrial Endometrioid Adenocarcinoma Endometrial Adenoacanthoma Endometrial Endometrioid Adenocarcinoma, Variant With Squamous Differentiation Adenocarcinoma Of Endometrium Adenocarcinoma Of The Endometrium Adenocarcinoma Of Uterus Endometrial Endometrioid Adenocarcinoma With Squamous Differentiation Endometrioid Adenoma Or Carcinoma Endometrioid Adenomas And Carcinomas Endometrioid Carcinoma Of Endometrium Endometrium Adenocarcinoma
Rectal Benign Neoplasm	Neoplasm Of Rectum Rectal Tumor Rectum Neoplasm Neoplasm Of The Rectum Rectal Neoplasms Primary Rectal Cancer Rectal Ampulla Cancer Cancer Of The Rectum Carcinoma Of Rectum Primary Malignant Neoplasm Of Rectum Rectal Cancer Rectal Carcinoma
Cowden Syndrome	Cowden Disease Multiple Hamartoma Syndrome Cowden'S Disease Lhermitte-Duclos Disease Cd Cs Mham Dysplastic Gangliocytoma Of Cerebellum Cowden'S Syndrome Hamartoma Syndrome, Multiple
Intestinal Benign Neoplasm	Intestinal Neoplasms Intestinal Tumors Intestine Growth Neoplasm Of Intestinal Tract
Uterine Body Mixed Cancer	Malignant Mixed Tumor Of Corpus Uteri Malignant Mixed Tumor, Not Otherwise Specified
Uterine Corpus Cancer	Corpus Uteri Cancer Malignant Uterine Corpus Neoplasm
Small Intestine Adenocarcinoma	Small Intestinal Adenocarcinoma Adenocarcinoma Of Small Intestine Adenocarcinoma Of The Small Bowel Adenocarcinoma Of Small Bowel Adenocarcinoma Of Small Instestine Adenocarcinoma Of The Small Instestine Small Bowel Adenocarcinoma Adenocarcinoma Of The Small Intestine
Colorectal Cancer, Hereditary Nonpolyposis, Type 5	HNPCC5 Hereditary Nonpolyposis Colorectal Cancer Type 5 Hereditary Non-Polyposis Colorectal Cancer 5 Cancer, Colorectal, Nonpolyposis, Hereditary, Type 5
Skin Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Skin Epidermoid Skin Carcinoma Squamous Cell Carcinoma Of The Skin Squamous Cell Epithelioma Of Skin Cutaneous Squamous Cell Carcinoma Scc - [Squamous Cell Carcinoma] Of Skin
Colorectal Adenocarcinoma	Adenocarcinoma Of Large Intestine
Colonic Benign Neoplasm	Colon Neoplasm Colonic Mass Colonic Tumor Neoplasm Of Colon Neoplasm Of The Colon Colonic Neoplasms Colon Cancer Colon Carcinoma Nos Colonic Cancer Metastatic Colon Cancer Nos
Pulsating Exophthalmos
Serous Cystadenocarcinoma	Serous Adenocarcinoma Cystadenocarcinoma, Serous Serous Carcinoma Cystadenocarcinoma Serous
Pancreatic Signet Ring Cell Adenocarcinoma	Pancreatic Signet Ring Cell Carcinoma Signet Ring Cell Carcinoma Of Pancreas
Rectum Adenocarcinoma	Rectal Adenocarcinoma Adenocarcinoma Of Rectum
Desmoid Tumor	Aggressive Fibromatosis Desmoid Type Fibromatosis Familial Infiltrative Fibromatosis Desmoid Disorder, Hereditary Fif Fibromatosis, Familial Infiltrative Deep Fibromatosis Desmoid Fibromatosis Hereditary Desmoid Disease Musculoaponeurotic Fibromatosis Desmoid-Type Fibromatosis Fibromatosis, Aggressive Desmoid Disease, Hereditary Musculo-Aponeurotic Fibromatosis
Uterine Carcinosarcoma	Carcinosarcoma Of The Corpus Uteri Mixed Mullerian Sarcoma Of Uterus Malignant Mixed Müllerian Tumor Of The Corpus Uteri Malignant Mixed Müllerian Tumor Of Corpus Uteri Mixed Müllerian Cancer Of Corpus Uteri Malignant Mixed Mullerian Tumor Of The Corpus Uteri Mixed Mullerian Cancer Of Corpus Uteri Uterine Corpus Carcinosarcoma
Gastrointestinal System Benign Neoplasm
Lung Clear Cell Carcinoma
Lymphangioma	Lymphatic Malformation Lymphatic Malformations Benign Lymphangioma Congenital Lymphangioma Lymphangiomas
Gastric Cancer	Stomach Cancer Gastric Carcinoma Stomach Carcinoma Gastric Cancer, Somatic Gastric Neoplasm Carcinoma Of Stomach Stomach Neoplasms Malignant Neoplasm Of Stomach Gastric Cancer Risk After H. Pylori Infection Cancer Of The Stomach Adult Stomach Cancer Adult Stomach Carcinoma GASC Gastric Cancer Intestinal Gastric Cancers Gastric Carcinomas Cancer, Gastric Stomach Neoplasm Malignant Neoplasm Of Body Of Stomach Malignant Tumor Of Lesser Curve Of Stomach Gastrocarcinoma Of Unspecified Site Leather Bottle Stomach Carcinoma Of Fundus Of Stomach Cancer Of Fundus Of Stomach Primary Malignant Neoplasm Of Body Of Stomach Cancer Of Body Of Stomach Primary Malignant Neoplasm Of Pyloric Antrum Pyloric Antrum Cancer Malignant Tumour Of Stomach
Medullary Colon Carcinoma
Endocervical Carcinoma	Carcinoma Of Endocervix Carcinoma Of The Endocervix
Chronic Congestive Splenomegaly
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Cervical Adenosarcoma	Cervical Muellerian Adenosarcoma Cervical Mullerian Adenosarcoma
Fallopian Tube Endometrioid Adenocarcinoma	Endometrioid Carcinoma Of The Fallopian Tube Fallopian Tube Endometrioid Cancer Fallopian Tube Endometrioid Neoplasm Fallopian Tube Endometrioid Tumor
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 Melanoma, Malignant CMM1 Melanoma, Cutaneous Malignant Cmm Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-173455	NP1867	Inhibitor	/	Unkown
HY-RS10773	PMS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PMS2	VGNC	VGNC:54058
Mus musculus	PMS2	MGD	MGI:104288
Felis catus	PMS2	VGNC	VGNC:80674
Bos taurus	PMS2	VGNC	VGNC:97303
Rattus norvegicus	PMS2	RGD	RGD:1305483
Macaca mulatta	PMS2	VGNC	VGNC:108428
Others	PMS2	NCBI