MSH2 - mutS homolog 2 Gene
Also Known as FCC1; COCA1; HNPCC; LCFS2; MSH-2; hMSH2; HNPCC1; LYNCH1; MMRCS2
Species: Homo sapiens
About MSH2
This gene has 9 transcripts (splice variants), 217 orthologues, 4 paralogues and is associated with 127 phenotypes. Ubiquitous expression in lymph node (RPKM 3.7), testis (RPKM 3.4) and 25 other tissues.
Summary
This locus is frequently mutated in hereditary nonpolyposis colon Cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
MSH2 Products (38)
| mRNA | Protein | Name |
|---|---|---|
| NM_000251.3 | NP_000242.1 | DNA mismatch repair protein Msh2 isoform 1 |
| NM_001258281.1 | NP_001245210.1 | DNA mismatch repair protein Msh2 isoform 2 |
| NM_001406631.1 | NP_001393560.1 | DNA mismatch repair protein Msh2 isoform 3 |
| NM_001406632.1 | NP_001393561.1 | DNA mismatch repair protein Msh2 isoform 4 |
| NM_001406633.1 | NP_001393562.1 | DNA mismatch repair protein Msh2 isoform 5 |
| NM_001406634.1 | NP_001393563.1 | DNA mismatch repair protein Msh2 isoform 6 |
| NM_001406635.1 | NP_001393564.1 | DNA mismatch repair protein Msh2 isoform 7 |
| NM_001406636.1 | NP_001393565.1 | DNA mismatch repair protein Msh2 isoform 8 |
| NM_001406637.1 | NP_001393566.1 | DNA mismatch repair protein Msh2 isoform 9 |
| NM_001406638.1 | NP_001393567.1 | DNA mismatch repair protein Msh2 isoform 10 |
| NM_001406639.1 | NP_001393568.1 | DNA mismatch repair protein Msh2 isoform 11 |
| NM_001406640.1 | NP_001393569.1 | DNA mismatch repair protein Msh2 isoform 11 |
| NM_001406641.1 | NP_001393570.1 | DNA mismatch repair protein Msh2 isoform 1 |
| NM_001406642.1 | NP_001393571.1 | DNA mismatch repair protein Msh2 isoform 12 |
| NM_001406643.1 | NP_001393572.1 | DNA mismatch repair protein Msh2 isoform 13 |
| NM_001406644.1 | NP_001393573.1 | DNA mismatch repair protein Msh2 isoform 14 |
| NM_001406645.1 | NP_001393574.1 | DNA mismatch repair protein Msh2 isoform 15 |
| NM_001406646.1 | NP_001393575.1 | DNA mismatch repair protein Msh2 isoform 16 |
| NM_001406647.1 | NP_001393576.1 | DNA mismatch repair protein Msh2 isoform 17 |
| NM_001406648.1 | NP_001393577.1 | DNA mismatch repair protein Msh2 isoform 18 |
| NM_001406649.1 | NP_001393578.1 | DNA mismatch repair protein Msh2 isoform 19 |
| NM_001406650.1 | NP_001393579.1 | DNA mismatch repair protein Msh2 isoform 19 |
| NM_001406651.1 | NP_001393580.1 | DNA mismatch repair protein Msh2 isoform 20 |
| NM_001406652.1 | NP_001393581.1 | DNA mismatch repair protein Msh2 isoform 21 |
| NM_001406653.1 | NP_001393582.1 | DNA mismatch repair protein Msh2 isoform 22 |
| NM_001406654.1 | NP_001393583.1 | DNA mismatch repair protein Msh2 isoform 23 |
| NM_001406655.1 | NP_001393584.1 | DNA mismatch repair protein Msh2 isoform 24 |
| NM_001406656.1 | NP_001393585.1 | DNA mismatch repair protein Msh2 isoform 25 |
| NM_001406657.1 | NP_001393586.1 | DNA mismatch repair protein Msh2 isoform 26 |
| NM_001406658.1 | NP_001393587.1 | DNA mismatch repair protein Msh2 isoform 27 |
| NM_001406659.1 | NP_001393588.1 | DNA mismatch repair protein Msh2 isoform 27 |
| NM_001406660.1 | NP_001393589.1 | DNA mismatch repair protein Msh2 isoform 27 |
| NM_001406661.1 | NP_001393590.1 | DNA mismatch repair protein Msh2 isoform 27 |
| NM_001406662.1 | NP_001393591.1 | DNA mismatch repair protein Msh2 isoform 27 |
| NM_001406666.1 | NP_001393595.1 | DNA mismatch repair protein Msh2 isoform 28 |
| NM_001406669.1 | NP_001393598.1 | DNA mismatch repair protein Msh2 isoform 29 |
| NM_001406672.1 | NP_001393601.1 | DNA mismatch repair protein Msh2 isoform 30 |
| NM_001406674.1 | NP_001393603.1 | DNA mismatch repair protein Msh2 isoform 31 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA repair |
IDA
IDA: Inferred from direct assay
|
8942985 | GOA |
| involved in maintenance of DNA repeat elements |
IMP
IMP: Inferred from mutant phenotype
|
16388310 | GOA |
| acts upstream of or within mismatch repair |
IDA
IDA: Inferred from direct assay
|
11555625 | GOA |
| involved in mismatch repair |
IDA
IDA: Inferred from direct assay
|
7923193 | GOA |
| acts upstream of or within mismatch repair |
IGI
IGI: Inferred from genetic interaction
|
23603115 | GOA |
| involved in negative regulation of DNA recombination |
IDA
IDA: Inferred from direct assay
|
17715146 | GOA |
| involved in positive regulation of helicase activity |
IDA
IDA: Inferred from direct assay
|
17715146 | GOA |
| involved in postreplication repair |
IDA
IDA: Inferred from direct assay
|
7923193 | GOA |
| involved in protein localization to chromatin |
IMP
IMP: Inferred from mutant phenotype
|
26300262 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of MutSalpha complex |
IDA
IDA: Inferred from direct assay
|
8942985 | GOA |
| part of MutSalpha complex |
IPI
IPI: Inferred from physical interaction
|
17531815 | GOA |
| part of MutSbeta complex |
IDA
IDA: Inferred from direct assay
|
8942985 | GOA |
| part of MutSbeta complex |
IPI
IPI: Inferred from physical interaction
|
22179786 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
26300262 | GOA |
MSH2 Protein Structure
MutS_I: MutS domain I (18 - 131)
MutS_II: MutS domain II (156 - 289)
MutS_III: MutS domain III (306 - 610)
MutS_IV: MutS family domain IV (474 - 568)
MutS_V: MutS domain V (619 - 853)
- 0
- 200
- 400
- 600
- 800
- 934 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA mismatch repair protein Msh2 |
|
MSH2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
MSH2 | P43246 | MSH3 | Homo sapiens | P20585 | 22179786 | |
|
Intra
|
MSH2 | P43246 | MSH3 | Homo sapiens | P20585 | 22179786 | |
|
Intra
|
MSH2 | P43246 | MSH3 | Homo sapiens | P20585 | 22179786 | |
|
Intra
|
MSH2 | P43246 | MSH3 | Homo sapiens | P20585 | 33961781 | |
|
Intra
|
MSH2 | P43246 | MSH3 | Homo sapiens | P20585 | 19377479 | |
|
Intra
|
MSH2 | P43246 | MSH3 | Homo sapiens | P20585 | 9774676 | |
|
Intra
|
MSH2 | P43246 | MSH3 | Homo sapiens | P20585 | 34591612 | |
|
Intra
|
MSH2 | P43246 | MSH3 | Homo sapiens | P20585 | 16025128 | |
|
Intra
|
MSH2 | P43246 | MSH3 | Homo sapiens | P20585 | 22179786 | |
|
Intra
|
MSH2 | P43246 | SLX4 | Homo sapiens | Q8IY92 | 19596235 | |
|
Intra
|
MSH2 | P43246 | HMGB1 | Homo sapiens | P09429 | 15014079 | |
|
Intra
|
MSH2 | P43246 | MSH6 | Homo sapiens | P52701 | 9774676 | |
|
Intra
|
MSH2 | P43246 | MSH6 | Homo sapiens | P52701 | 34591612 | |
|
Intra
|
MSH2 | P43246 | MSH6 | Homo sapiens | P52701 | 33961781 | |
|
Intra
|
MSH2 | P43246 | MSH6 | Homo sapiens | P52701 | 19377479 | |
|
Cross
|
MSH2 | P43246 | EXO1 | Saccharomyces cerevisiae | P39875 | 9207118 | |
|
Intra
|
MSH2 | P43246 | APPBP2 | Homo sapiens | Q92624 | 32296183 | |
|
Intra
|
MSH2 | P43246 | APPBP2 | Homo sapiens | Q92624 | 32296183 | |
|
Intra
|
MSH2 | P43246 | APPBP2 | Homo sapiens | Q92624 | 32296183 | |
|
Intra
|
MSH2 | P43246 | EXO1 | Homo sapiens | Q9UQ84-1 | 10856833 | |
|
Intra
|
MSH2 | P43246 | EXO1 | Homo sapiens | Q9UQ84-1 | 12414623 |
Recombinant MSH2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P73803 | MSH2 Protein, Human (sf9, His-GST) | P43246-1/NP_000242.1 (M1-T934) | ≥ 90%, as determined by reducing SDS-PAGE. |
MSH2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82029 | MSH2 Antibody (YA1774) | WB | Human, Rat |
| HY-P82029A | MSH2 Antibody (YA1774)(PBS only) | WB | Human, Rat |
| HY-P84322 | MSH2 Antibody (YA4019) | WB, IHC-P, ICC/IF, ELISA, ELISA | Human, Mouse |
| HY-P84322A | MSH2 Antibody (YA4019)(PBS only) | WB, IHC-P, ICC/IF, ELISA, ELISA | Human, Mouse |
| HY-P85962 | MSH2 Antibody (YA5654) | IHC-P, WB, ICC/IF, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Muir-Torre Syndrome |
|
|
| Lynch Syndrome I |
|
|
| Mismatch Repair Cancer Syndrome 2 |
|
|
| Lynch Syndrome |
|
|
| Ascending Colon Cancer |
|
|
| Ovarian Cyst |
|
|
| Giant Cell Glioblastoma |
|
|
| Gliosarcoma |
|
|
| Mismatch Repair Cancer Syndrome 1 |
|
|
| Familial Colorectal Cancer |
|
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 5 |
|
|
| Glioblastoma |
|
|
| Endometrial Cancer |
|
|
| Colorectal Cancer |
|
|
| Rhabdomyosarcoma |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Ovarian Cancer |
|
|
| Breast Cancer |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Rectal Benign Neoplasm |
|
|
| Tanycytic Ependymoma |
|
|
| Papillary Ependymoma |
|
|
| Clear Cell Ependymoma |
|
|
| Adenoma |
|
|
| Keratoacanthoma |
|
|
| Cellular Ependymoma |
|
|
| Small Intestine Cancer |
|
|
| Familial Adenomatous Polyposis |
|
|
| Sebaceous Adenocarcinoma |
|
|
| Mismatch Repair Cancer Syndrome |
|
|
| Hepatoblastoma |
|
|
| Sebaceous Adenoma |
|
|
| Skin Benign Neoplasm |
|
|
| Neurofibromatosis |
|
|
| Endometrial Hyperplasia |
|
|
| Sebaceous Gland Neoplasm |
|
|
| Colorectal Cancer 1 |
|
|
| Rectum Cancer |
|
|
| Adenocarcinoma |
|
|
| Ulcerative Colitis |
|
|
| Cecum Carcinoma |
|
|
| Transitional Cell Carcinoma |
|
|
| Cheilitis |
|
|
| Myh-Associated Polyposis |
|
|
| Ureter, Cancer Of |
|
|
| Skin Carcinoma |
|
|
| Small Intestine Adenocarcinoma |
|
|
| Jejunal Cancer |
|
|
| Colitis |
|
|
| Adenosquamous Colon Carcinoma |
|
|
| Jejunal Adenocarcinoma |
|
|
| Liposarcoma |
|
|
| Duodenum Adenocarcinoma |
|
|
| Rectosigmoid Cancer |
|
|
| Renal Pelvis Carcinoma |
|
|
| Neurofibromatosis, Type I |
|
|
| Familial Adenomatous Polyposis 2 |
|
|
| Extrahepatic Bile Duct Adenoma |
|
|
| Cowden Syndrome 1 |
|
|
| Neuroma |
|
|
| Fallopian Tube Carcinoma |
|
|
| Appendix Carcinoid Tumor |
|
|
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
|
| Dysplastic Nevus Syndrome |
|
|
| Vipoma |
|
|
| Juvenile Polyposis Syndrome |
|
|
| Diffuse Gastric Cancer |
|
|
| Descending Colon Cancer |
|
|
| Oligodendroglioma |
|
|
| Duodenum Cancer |
|
|
| Mucinous Adenocarcinoma |
|
|
| Cervical Endometrioid Adenocarcinoma |
|
|
| Skin Squamous Cell Carcinoma |
|
|
| Gastric Cancer |
|
|
| Hereditary Mixed Polyposis Syndrome |
|
|
| Female Reproductive Endometrioid Cancer |
|
|
| Colorectal Adenoma |
|
|
| Villous Adenoma |
|
|
| Duodenum Disease |
|
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
|
| Uterine Body Mixed Cancer |
|
|
| Lentigines |
|
|
| Rectum Signet Ring Adenocarcinoma |
|
|
| Intestinal Benign Neoplasm |
|
|
| Basal Cell Carcinoma |
|
|
| Signet Ring Cell Adenocarcinoma |
|
|
| Li-Fraumeni Syndrome |
|
|
| Hepatocellular Carcinoma |
|
|
| Endometrioid Ovary Carcinoma |
|
|
| Cowden Syndrome |
|
|
| Endometrial Adenocarcinoma |
|
|
| Colorectal Adenocarcinoma |
|
|
| Colonic Benign Neoplasm |
|
|
| Pancreatic Cancer |
|
|
| Bladder Cancer |
|
|
| Gastric Body Carcinoma |
|
|
| Uterine Corpus Cancer |
|
|
| Brain Cancer |
|
|
| Uterine Carcinosarcoma |
|
|
| Gastrointestinal System Benign Neoplasm |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Serous Cystadenocarcinoma |
|
|
| Hematologic Cancer |
|
|
| Rectum Adenocarcinoma |
|
|
| Lymphangioma |
|
|
| Sebaceous Gland Disease |
|
|
| Desmoid Tumor |
|
|
| Endocervical Carcinoma |
|
|
| Prostate Cancer |
|
|
| Autosomal Dominant Intellectual Developmental Disorder 8 |
|
|
| Lung Cancer |
|
|
| Pancreatic Signet Ring Cell Adenocarcinoma |
|
|
| Retinal Melanoma |
|
|
| Medulloblastoma |
|
|
| Lung Clear Cell Carcinoma |
|
|
| Medullary Colon Carcinoma |
|
|
| Papillary Adenofibroma |
|
|
| Adrenal Cortical Carcinoma |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Melanoma, Cutaneous Malignant 1 |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Aplastic Anemia |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | MSH2 | VGNC | VGNC:74931 |
| Bos taurus | MSH2 | VGNC | VGNC:31693 |
| Mus musculus | MSH2 | MGD | MGI:101816 |
| Canis familiaris | MSH2 | VGNC | VGNC:43438 |
| Felis catus | MSH2 | VGNC | VGNC:68322 |
| Rattus norvegicus | MSH2 | RGD | RGD:620786 |
| Others | MSH2 | NCBI |