Msh2 (mutS homolog 2) - Rat Genome Database

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Gene: Msh2 (mutS homolog 2) Rattus norvegicus
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Symbol: Msh2
Name: mutS homolog 2
RGD ID: 620786
Description: Predicted to enable several functions, including ATP hydrolysis activity; DNA binding activity; and protein homodimerization activity. Predicted to contribute to several functions, including DNA binding activity; MutLalpha complex binding activity; and adenyl ribonucleotide binding activity. Involved in several processes, including response to amino acid; response to xenobiotic stimulus; and spermatogenesis. Predicted to be located in nucleoplasm. Predicted to be part of MutSalpha complex and MutSbeta complex. Predicted to be active in nucleus. Biomarker of colitis and visual epilepsy. Human ortholog(s) of this gene implicated in several diseases, including Lynch syndrome (multiple); gastrointestinal system cancer (multiple); lung cancer (multiple); mismatch repair cancer syndrome; and transitional cell carcinoma. Orthologous to human MSH2 (mutS homolog 2); PARTICIPATES IN altered mismatch repair pathway; colorectal cancer pathway; mismatch repair pathway; INTERACTS WITH 1,2-dimethylhydrazine; 17alpha-ethynylestradiol; 2,4-dinitrotoluene.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DNA mismatch repair protein Msh2; mismatch repair protein; mutS homolog 2 (E. coli); mutS protein homolog 2
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8612,567,368 - 12,626,534 (-)NCBIGRCr8
mRatBN7.266,813,793 - 6,872,960 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl66,813,795 - 6,872,938 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx67,095,880 - 7,155,017 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.067,405,284 - 7,464,421 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.066,932,416 - 6,991,551 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0611,215,951 - 11,274,916 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl611,215,963 - 11,274,932 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0621,198,374 - 21,256,838 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4611,199,906 - 11,258,350 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1611,199,905 - 11,258,350 (+)NCBI
Celera66,571,260 - 6,630,220 (-)NCBICelera
Cytogenetic Map6q12NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
ascending colon cancer  (ISO)
bile duct cancer  (ISO)
breast cancer  (ISO)
breast carcinoma  (ISO)
cervix uteri carcinoma in situ  (ISO)
colitis  (IEP)
colon cancer  (ISO)
colon carcinoma  (ISO)
Colon Diverticulum  (ISO)
Colonic Polyps  (ISO)
colorectal adenocarcinoma  (ISO)
colorectal cancer  (ISO)
Colorectal Neoplasms  (ISO)
endometrial carcinoma  (ISO)
Endometrial Neoplasms  (ISO)
esophagus squamous cell carcinoma  (ISO)
Germ Cell and Embryonal Neoplasms  (ISO)
glioblastoma  (ISO)
hepatoblastoma  (ISO)
hereditary breast ovarian cancer syndrome  (ISO)
Hereditary Neoplastic Syndromes  (ISO)
hereditary nonpolyposis colorectal cancer type 2  (ISO)
hereditary nonpolyposis colorectal cancer type 4  (ISO)
high grade glioma  (ISO)
Huntington's disease  (ISO)
Hydatidiform Mole  (ISO)
Hydatidiform Mole, Invasive  (ISO)
laryngeal squamous cell carcinoma  (ISO)
lung adenocarcinoma  (ISO)
lung cancer  (ISO)
lung non-small cell carcinoma  (ISO)
Lymphatic Metastasis  (ISO)
Lynch syndrome  (ISO,ISS)
Lynch syndrome 1  (ISO)
mismatch repair cancer syndrome  (ISO)
Mismatch Repair Cancer Syndrome 1  (ISO)
Mismatch Repair Cancer Syndrome 2  (ISO)
Muir-Torre syndrome  (ISO)
Neoplasm Metastasis  (ISO)
oculocutaneous albinism type IV  (ISO)
osteosarcoma  (ISO)
ovarian cancer  (ISO)
ovarian cyst  (ISO)
Ovarian Neoplasms  (ISO)
Pitt-Hopkins-like syndrome 2  (ISO)
prostate cancer  (ISO)
renal cell carcinoma  (ISO)
Renal Cell Carcinoma 1  (ISO)
rhabdomyosarcoma  (ISO)
sarcoma  (ISO)
sigmoid colon cancer  (ISO)
sigmoid neoplasm  (ISO)
stomach cancer  (ISO)
transitional cell carcinoma  (ISO)
urinary bladder cancer  (ISO)
Urogenital Neoplasms  (ISO)
Uterine Cervical Neoplasms  (ISO)
uterine corpus cancer  (ISO)
visual epilepsy  (IEP)
Vulvar Neoplasms  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(-)-quinic acid  (ISO)
(S)-naringenin  (ISO)
1,2-dimethylhydrazine  (EXP,ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (EXP)
acrylamide  (EXP)
afimoxifene  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
amitrole  (EXP)
ammonium chloride  (EXP)
amphetamine  (EXP)
arecoline  (ISO)
aristolochic acid A  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (ISO)
azathioprine  (ISO)
azoxystrobin  (ISO)
benzo[a]pyrene  (ISO)
biphenyl-4-amine  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Butylbenzyl phthalate  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
carboplatin  (EXP)
carmustine  (ISO)
chlorpromazine  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
coumestrol  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (ISO)
DDE  (ISO)
diarsenic trioxide  (ISO)
diazinon  (EXP)
Dibutyl phosphate  (ISO)
dibutyl phthalate  (EXP)
dichromium trioxide  (ISO)
dicrotophos  (ISO)
dieldrin  (EXP)
Dimethyl phthalate  (EXP)
dimethylarsinic acid  (EXP)
dioxygen  (ISO)
dipentyl phthalate  (EXP)
doxorubicin  (ISO)
enzyme inhibitor  (ISO)
erastin  (ISO)
floxuridine  (ISO)
folic acid  (ISO)
furan  (EXP)
gamma-hexachlorocyclohexane  (EXP)
genistein  (EXP)
gentamycin  (EXP)
glyphosate  (ISO)
hydrogen peroxide  (ISO)
imiquimod  (ISO)
indirubin  (ISO)
irinotecan  (ISO)
ivermectin  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
Lasiocarpine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
lycopene  (ISO)
mechlorethamine  (ISO)
menadione  (ISO)
methimazole  (EXP)
methoxychlor  (EXP)
methylarsonic acid  (EXP)
monocrotaline  (ISO)
N-acetyl-L-cysteine  (ISO)
N-ethyl-N-nitrosourea  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (ISO)
olaparib  (ISO)
oxaliplatin  (EXP)
oxybenzone  (ISO)
ozone  (EXP)
paracetamol  (ISO)
pergolide  (ISO)
phenobarbital  (ISO)
PhIP  (EXP,ISO)
pirinixic acid  (ISO)
piroxicam  (ISO)
potassium chromate  (ISO)
propiconazole  (EXP)
pyrimidines  (ISO)
quercetin  (EXP,ISO)
resveratrol  (ISO)
riddelliine  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (EXP,ISO)
sterigmatocystin  (ISO)
succimer  (ISO)
sunitinib  (ISO)
temozolomide  (ISO)
tetrachloromethane  (EXP)
thioacetamide  (EXP)
thiram  (ISO)
tioguanine  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
uranium atom  (ISO)
urethane  (ISO)
valproic acid  (ISO)
vorinostat  (ISO)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
B cell differentiation  (IEA,ISO)
B cell mediated immunity  (ISO)
determination of adult lifespan  (IEA,ISO)
DNA damage response  (ISO)
DNA repair  (ISO)
double-strand break repair  (IEA,ISO)
germ cell development  (IEA,ISO)
in utero embryonic development  (IEA,ISO)
intrinsic apoptotic signaling pathway in response to DNA damage  (ISO)
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  (IEA,ISO)
isotype switching  (IEA,ISO)
maintenance of DNA repeat elements  (IEA,ISO)
male gonad development  (IEA,ISO)
mismatch repair  (IBA,IEA,ISO)
mitotic intra-S DNA damage checkpoint signaling  (IEA,ISO)
mitotic recombination  (IBA)
negative regulation of DNA recombination  (IEA,ISO)
negative regulation of neuron apoptotic process  (IEA,ISO)
oxidative phosphorylation  (IEA,ISO)
positive regulation of helicase activity  (ISO)
positive regulation of isotype switching to IgA isotypes  (IEA,ISO)
positive regulation of isotype switching to IgG isotypes  (IEA,ISO)
postreplication repair  (IEA,ISO,ISS)
protein localization to chromatin  (IEA,ISO)
regulation of cell cycle  (ISO)
response to amino acid  (IEP)
response to organic cyclic compound  (IEP)
response to UV-B  (IEA,ISO)
response to X-ray  (IEA,ISO)
response to xenobiotic stimulus  (IEP)
somatic hypermutation of immunoglobulin genes  (IEA,ISO)
somatic recombination of immunoglobulin gene segments  (ISO)
somatic recombination of immunoglobulin genes involved in immune response  (IBA,ISO)
spermatogenesis  (IEP)

Cellular Component
chromosome  (IEA)
MutSalpha complex  (IBA,IEA,ISO,ISS)
MutSbeta complex  (IEA,ISO)
nucleoplasm  (IEA,ISO)
nucleus  (IBA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Predominant germ-line mutation of the hMSH2 gene in Japanese hereditary non-polyposis colorectal cancer kindreds. Bai YQ, etal., Int J Cancer. 1999 Aug 12;82(4):512-5.
2. Mismatch repair genes in renal cortical neoplasms. Baiyee D and Banner B, Hum Pathol. 2006 Feb;37(2):185-9. Epub 2005 Dec 15.
3. Distribution and kainate-mediated induction of the DNA mismatch repair protein MSH2 in rat brain. Belloni M, etal., Neuroscience. 1999;94(4):1323-31.
4. Expression of the mismatch repair protein hMSH2 in carcinoma in situ and invasive cancer of the breast. Bock N, etal., Anticancer Res. 2000 Jan-Feb;20(1A):119-24.
5. Analysis of MSH2 Loss of Heterozygosity, Expression, and IVS10+12G>A Polymorphism in Sporadic Colon Cancer. Cacev T, etal., Anticancer Res. 2018 May;38(5):2841-2848. doi: 10.21873/anticanres.12529.
6. Apurinic/apyrimidinic endonuclease 1, the sensitive marker for DNA deterioration in dextran sulfate sodium-induced acute colitis. Chang IY, etal., Redox Rep. 2013;18(5):165-73. doi: 10.1179/1351000213Y.0000000056. Epub 2013 Jul 23.
7. Mismatch repair gene promoter methylation and expression in hydatidiform moles. Chen H, etal., Arch Gynecol Obstet. 2005 Jun;272(1):35-9. Epub 2004 Aug 28.
8. Polymorphisms in hMSH2 and hMLH1 and response to platinum-based chemotherapy in advanced non-small-cell lung cancer patients. Cheng H, etal., Acta Biochim Biophys Sin (Shanghai). 2010 May 15;42(5):311-7. doi: 10.1093/abbs/gmq023.
9. The expression of mismatched repair genes and their correlation with clinicopathological parameters and response to neo-adjuvant chemotherapy in breast cancer. Chintamani, etal., Int Semin Surg Oncol. 2007 Feb 14;4:5.
10. Immunohistochemical expression of DNA mismatch repair (MMR) system proteins (hMLH1, hMSH2) in cervical preinvasive and invasive lesions. Ciavattini A, etal., Pathol Res Pract. 2005;201(1):21-5.
11. 1,2-Dimethylhydrazine-induced colon carcinoma and lymphoma in msh2(-/-) mice. Colussi C, etal., J Natl Cancer Inst. 2001 Oct 17;93(20):1534-40. doi: 10.1093/jnci/93.20.1534.
12. Transcriptome and proteome profiling of colon mucosa from quercetin fed F344 rats point to tumor preventive mechanisms, increased mitochondrial fatty acid degradation and decreased glycolysis. Dihal AA, etal., Proteomics. 2008 Jan;8(1):45-61.
13. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
14. Cloning of rat MLH1 and expression analysis of MSH2, MSH3, MSH6, and MLH1 during spermatogenesis. Geeta Vani R, etal., Genomics 1999 Dec 15;62(3):460-7.
15. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
16. An intronic germline transition in the HNPCC gene hMSH2 is associated with sporadic colorectal cancer. Goessl C, etal., Eur J Cancer. 1997 Oct;33(11):1869-74. doi: 10.1016/s0959-8049(97)00219-0.
17. Reduced expression of mutS homolog 2 and mutL homolog 1 affects overall survival in laryngeal squamous cell carcinoma patients: Investigation into a potential cause. Gong HL, etal., Oncol Rep. 2013 Sep;30(3):1371-9. doi: 10.3892/or.2013.2559. Epub 2013 Jun 20.
18. Cyclical change of hMSH2 protein expression in normal endometrium during the menstrual cycle and its overexpression in endometrial hyperplasia and sporadic endometrial carcinoma. Hamid AA, etal., Cancer. 2002 Feb 15;94(4):997-1005.
19. Paternal exposure to cyclophosphamide induces DNA damage and alters the expression of DNA repair genes in the rat preimplantation embryo. Harrouk W, etal., Mutat Res 2000 Nov 9;461(3):229-41.
20. Overexpression of MutL homolog 1 and MutS homolog 2 proteins have reversed prognostic implications for stage I-II colon cancer patients. Huang SC, etal., Biomed J. 2017 Feb;40(1):39-48. doi: 10.1016/j.bj.2017.01.004. Epub 2017 Mar 14.
21. DNA mismatch repair defects: role in colorectal carcinogenesis. Jacob S and Praz F, Biochimie. 2002 Jan;84(1):27-47.
22. Expression of MSH2 and MSH6 on a tissue microarray in patients with osteosarcoma. Jentzsch T, etal., Anticancer Res. 2014 Dec;34(12):6961-72.
23. Urinary Tract Cancer in Lynch Syndrome; Increased Risk in Carriers of MSH2 Mutations. Joost P, etal., Urology. 2015 Dec;86(6):1212-7. doi: 10.1016/j.urology.2015.08.018. Epub 2015 Sep 15.
24. Polymorphisms in the hMSH2 gene and the risk of primary lung cancer. Jung CY, etal., Cancer Epidemiol Biomarkers Prev. 2006 Apr;15(4):762-8.
25. MutS homologue 2 and the long-term benefit of adjuvant chemotherapy in lung cancer. Kamal NS, etal., Clin Cancer Res. 2010 Feb 15;16(4):1206-15. doi: 10.1158/1078-0432.CCR-09-2204. Epub 2010 Feb 9.
26. Expression of DNA mismatch repair gene MSH2 in cytological material from lung cancer patients. Kanellis G, etal., Diagn Cytopathol. 2006 Jul;34(7):463-6. doi: 10.1002/dc.20473.
27. Increasing oxidative damage and loss of mismatch repair enzymes during breast carcinogenesis. Karihtala P, etal., Eur J Cancer. 2006 Oct;42(15):2653-9. Epub 2006 Sep 22.
28. Immunohistochemistry of proteins for DNA mismatch repair in correlation to prognostic factors of mammarian cancer. Koster F, etal., Oncol Rep. 2007 May;17(5):1223-7.
29. Immunohistochemical detection of hMLH1 and hMSH2 proteins in vulvar carcinoma. Kwasniewska A, etal., Int J Mol Med. 2005 Jun;15(6):955-61.
30. Mechanisms and functions of DNA mismatch repair. Li GM Cell Res. 2008 Jan;18(1):85-98.
31. [Relationship between combined multigene detection and response to chemotherapy and prognosis in epithelial ovarian carcinomas]. Li L, etal., Zhonghua Fu Chan Ke Za Zhi. 2007 Sep;42(9):600-4.
32. Aberrant methylation of different DNA repair genes demonstrates distinct prognostic value for esophageal cancer. Ling ZQ, etal., Dig Dis Sci. 2011 Oct;56(10):2992-3004. doi: 10.1007/s10620-011-1774-z. Epub 2011 Jun 15.
33. MSH2 promoter hypermethylation in circulating tumor DNA is a valuable predictor of disease-free survival for patients with esophageal squamous cell carcinoma. Ling ZQ, etal., Eur J Surg Oncol. 2012 Apr;38(4):326-32. doi: 10.1016/j.ejso.2012.01.008. Epub 2012 Jan 23.
34. Association between DNA mismatch repair gene polymorphisms and platinum-based chemotherapy toxicity in non-small cell lung cancer patients. Liu JY, etal., Chin J Cancer. 2017 Jan 16;36(1):12. doi: 10.1186/s40880-016-0175-2.
35. Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. Lu KH, etal., J Clin Oncol. 2007 Nov 20;25(33):5158-64. Epub 2007 Oct 9.
36. Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome. Maletzki C, etal., Mol Carcinog. 2017 Jul;56(7):1753-1764. doi: 10.1002/mc.22632. Epub 2017 Mar 30.
37. Expression of long-patch and short-patch DNA mismatch repair proteins in the embryonic and adult mammalian brain. Marietta C, etal., Brain Res Mol Brain Res. 1998 Jan;53(1-2):317-20.
38. New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife. Medina-Arana V, etal., Cancer Lett. 2006 Dec 8;244(2):268-73. doi: 10.1016/j.canlet.2005.12.033. Epub 2006 Feb 24.
39. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
40. Microsatellite instability and mutation analysis of candidate genes in urothelial cell carcinomas of upper urinary tract. Mongiat-Artus P, etal., Oncogene. 2006 Mar 30;25(14):2113-8.
41. Prognostic value of microsatellite instability determined by immunohistochemical staining of hMSH2 and hMSH6 in urothelial carcinoma of the bladder. Mylona E, etal., APMIS. 2008 Jan;116(1):59-65.
42. Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer. Myrhoj T, etal., Fam Cancer. 2008 Apr 4;.
43. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
44. Loss of MSH2 protein expression is a risk factor in early stage cervical cancer. Nijhuis ER, etal., J Clin Pathol. 2007 Jul;60(7):824-30.
45. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
46. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
47. Polymorphisms of the DNA mismatch repair gene HMSH2 in breast cancer occurence and progression. Poplawski T, etal., Breast Cancer Res Treat. 2005 Dec;94(3):199-204.
48. Tissue microarray analysis of hMSH2 expression predicts outcome in men with prostate cancer. Prtilo A, etal., J Urol. 2005 Nov;174(5):1814-8; discussion 1818.
49. [Expression and significance of hMSH2 protein in laryngeal squamous cell carcinoma]. Ren Y, etal., Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2013 Sep;27(18):986-8.
50. Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. Rey JM, etal., Cancer Genet Cytogenet. 2004 Dec;155(2):149-51.
51. GOA pipeline RGD automated data pipeline
52. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
53. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
54. Comprehensive gene review and curation RGD comprehensive gene curation
55. Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. Skeldon SC, etal., Eur Urol. 2013 Feb;63(2):379-85. doi: 10.1016/j.eururo.2012.07.047. Epub 2012 Aug 2.
56. Mismatch repair gene polymorphisms and association with lung cancer development. Slováková P, etal., Adv Exp Med Biol. 2015;833:15-22. doi: 10.1007/5584_2014_83.
57. Promoter methylation status of MGMT, hMSH2, and hMLH1 and its relationship to corresponding protein expression and TP53 mutations in human esophageal squamous cell carcinoma. Su Y, etal., Med Oncol. 2014 Feb;31(2):784. doi: 10.1007/s12032-013-0784-4. Epub 2013 Dec 24.
58. Germline truncating mutations in both MSH2 and BRCA2 in a single kindred. Thiffault I, etal., Br J Cancer. 2004 Jan 26;90(2):483-91.
59. Induction of p53 in the glutamate-induced cell death program. Uberti D, etal., Amino Acids. 2000;19(1):253-61.
60. Cloning of the cDNA encoding rat homologue of the mismatch repair gene MSH2 and its expression during spermatogenesis. Vani RG and Rao MR, Gene 1997 Jan 31;185(1):19-26.
61. Microsatellite instability and loss of heterozygosity have distinct prognostic value for testicular germ cell tumor recurrence. Velasco A, etal., Cancer Biol Ther. 2004 Nov;3(11):1152-8; discussion 1159-61. Epub 2004 Nov 9.
62. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Wheeler VC, etal., Hum Mol Genet. 2003 Feb 1;12(3):273-81.
63. DNMT1 promotes cell proliferation via methylating hMLH1 and hMSH2 promoters in EGFR-mutated non-small cell lung cancer. Wu XY, etal., J Biochem. 2020 Aug 1;168(2):151-157. doi: 10.1093/jb/mvaa034.
64. Comparative study of mutations in SNP loci of K-RAS, hMLH1 and hMSH2 genes in neoplastic intestinal polyps and colorectal cancer. Yan ZH, etal., World J Gastroenterol. 2014 Dec 28;20(48):18338-45. doi: 10.3748/wjg.v20.i48.18338.
Additional References at PubMed
PMID:7550317   PMID:7628020   PMID:7923193   PMID:8706033   PMID:8942985   PMID:9157971   PMID:9244348   PMID:9288110   PMID:9425892   PMID:9443401   PMID:9607915   PMID:9607916  
PMID:9697842   PMID:9697843   PMID:9788596   PMID:9927509   PMID:10097137   PMID:10430621   PMID:10545954   PMID:10581038   PMID:10720738   PMID:10856833   PMID:10874005   PMID:10992298  
PMID:11046134   PMID:11427529   PMID:11429706   PMID:11429708   PMID:11555625   PMID:11756455   PMID:11801590   PMID:11809883   PMID:11828012   PMID:11890935   PMID:12034830   PMID:12414623  
PMID:12477932   PMID:12531017   PMID:12687013   PMID:12743174   PMID:14563316   PMID:14568978   PMID:14657349   PMID:14676842   PMID:14706347   PMID:14744764   PMID:15105434   PMID:15166087  
PMID:15494304   PMID:15533840   PMID:15955838   PMID:16260499   PMID:16388310   PMID:16403449   PMID:16713580   PMID:16728433   PMID:16805809   PMID:17331550   PMID:17715146   PMID:17912366  
PMID:19135898   PMID:19946888   PMID:22082260   PMID:23071719   PMID:23603115   PMID:23622243   PMID:25249609   PMID:26300262   PMID:35741815  


Genomics

Comparative Map Data
Msh2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8612,567,368 - 12,626,534 (-)NCBIGRCr8
mRatBN7.266,813,793 - 6,872,960 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl66,813,795 - 6,872,938 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx67,095,880 - 7,155,017 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.067,405,284 - 7,464,421 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.066,932,416 - 6,991,551 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0611,215,951 - 11,274,916 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl611,215,963 - 11,274,932 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0621,198,374 - 21,256,838 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4611,199,906 - 11,258,350 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1611,199,905 - 11,258,350 (+)NCBI
Celera66,571,260 - 6,630,220 (-)NCBICelera
Cytogenetic Map6q12NCBI
MSH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38247,403,067 - 47,709,830 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl247,403,067 - 47,663,146 (+)EnsemblGRCh38hg38GRCh38
GRCh37247,630,206 - 47,936,969 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36247,483,767 - 47,563,864 (+)NCBINCBI36Build 36hg18NCBI36
Build 34247,541,913 - 47,622,011NCBI
Celera247,469,014 - 47,549,030 (+)NCBICelera
Cytogenetic Map2p21-p16.3NCBI
HuRef247,367,170 - 47,445,840 (+)NCBIHuRef
CHM1_1247,560,266 - 47,640,762 (+)NCBICHM1_1
T2T-CHM13v2.0247,408,101 - 47,714,827 (+)NCBIT2T-CHM13v2.0
Msh2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391787,979,960 - 88,031,141 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1787,979,758 - 88,031,141 (+)EnsemblGRCm39 Ensembl
GRCm381787,672,532 - 87,723,713 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1787,672,330 - 87,723,713 (+)EnsemblGRCm38mm10GRCm38
MGSCv371788,071,897 - 88,123,053 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361787,580,883 - 87,632,039 (+)NCBIMGSCv36mm8
Celera1792,079,522 - 92,130,140 (+)NCBICelera
Cytogenetic Map17E4NCBI
cM Map1757.87NCBI
Msh2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544114,187,805 - 14,247,698 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544114,188,315 - 14,247,608 (+)NCBIChiLan1.0ChiLan1.0
MSH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21278,853,510 - 78,981,234 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A78,857,477 - 78,985,200 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A47,524,468 - 47,602,376 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A48,447,207 - 48,525,638 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A48,447,207 - 48,554,461 (+)Ensemblpanpan1.1panPan2
MSH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11049,517,448 - 49,594,001 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1049,517,369 - 49,594,210 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1049,372,675 - 49,449,176 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01050,390,734 - 50,467,292 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1050,390,727 - 50,467,285 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11050,098,560 - 50,174,750 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01050,386,621 - 50,461,201 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01050,572,222 - 50,649,102 (+)NCBIUU_Cfam_GSD_1.0
Msh2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629233,515,476 - 33,584,710 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365084,944,007 - 5,013,356 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365084,943,987 - 5,013,356 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MSH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl393,081,219 - 93,163,585 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1393,082,958 - 93,163,556 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2399,052,166 - 99,101,600 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2399,274,469 - 99,306,160 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MSH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11459,730,101 - 59,802,857 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1459,729,789 - 59,802,819 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604552,045,654 - 52,118,250 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Msh2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473828,780,614 - 28,861,704 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473828,780,596 - 28,861,523 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Msh2
383 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:62
Count of miRNA genes:55
Interacting mature miRNAs:62
Transcripts:ENSRNOT00000021538
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
8552962Pigfal16Plasma insulin-like growth factor 1 level QTL 169.4blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)6141223769Rat
7411603Foco13Food consumption QTL 135.50.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)6141223769Rat
1598843Cm63Cardiac mass QTL 632.6heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)6139036266Rat
738024Sach5Saccharine consumption QTL 53.90.00039consumption behavior trait (VT:0002069)saccharin intake volume to total fluid intake volume ratio (CMO:0001601)6143394190Rat
1549905Stresp10Stress response QTL 106.830.0066stress-related behavior trait (VT:0010451)number of approaches toward negative stimulus before onset of defensive burying response (CMO:0001960)6127574569Rat
7411542Bw127Body weight QTL 1275.50.001body mass (VT:0001259)body weight gain (CMO:0000420)6141223769Rat
2293706Bmd20Bone mineral density QTL 204.30.0002femur mineral mass (VT:0010011)total volumetric bone mineral density (CMO:0001728)6507449719988050Rat
9589048Scfw3Subcutaneous fat weight QTL 34.570.001subcutaneous adipose mass (VT:1000472)abdominal subcutaneous fat pad weight (CMO:0002069)6141223769Rat
1331743Uae28Urinary albumin excretion QTL 284.5urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)6134235784Rat
738023Alc17Alcohol consumption QTL 173.10.003consumption behavior trait (VT:0002069)ethanol drink intake rate to body weight ratio (CMO:0001616)6127574569Rat
1354616Despr12Despair related QTL 120.0012locomotor behavior trait (VT:0001392)amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)6127574569Rat
2293709Bss23Bone structure and strength QTL 235.180.0001femur morphology trait (VT:0000559)femur cross-sectional area (CMO:0001661)6142487980Rat
2293650Bss31Bone structure and strength QTL 315.050.0001femur strength trait (VT:0010010)femur midshaft polar moment of inertia (CMO:0001669)6142487980Rat
7411584Foco4Food consumption QTL 44.30.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)6142838846Rat
2300176Bmd51Bone mineral density QTL 5111.70.0001femur mineral mass (VT:0010011)bone mineral density (CMO:0001226)6127574569Rat
1300128Rf16Renal function QTL 163.89renal blood flow trait (VT:2000006)absolute change in renal blood flow rate (CMO:0001168)6507449734434305Rat
2301972Bp325Blood pressure QTL 3254.8arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)6172227641Rat
1300164Rf15Renal function QTL 153.12renal blood flow trait (VT:2000006)absolute change in renal blood flow rate (CMO:0001168)6507449754641141Rat
2293656Bss28Bone structure and strength QTL 286.790.0001femur morphology trait (VT:0000559)femur midshaft cortical cross-sectional area (CMO:0001663)6142487980Rat
9589129Insul24Insulin level QTL 2419.060.001blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)6141223769Rat
2300190Bmd52Bone mineral density QTL 5211.20.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)6127574569Rat
1578758Tcas9Tongue tumor susceptibility QTL 93.29tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)6137618905Rat


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 49 113 91 90 59 25 59 6 218 97 93 45 60 31

Sequence


Ensembl Acc Id: ENSRNOT00000021538   ⟹   ENSRNOP00000021538
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl66,813,795 - 6,872,938 (-)Ensembl
Rnor_6.0 Ensembl611,215,963 - 11,274,932 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000100386   ⟹   ENSRNOP00000088140
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl66,813,795 - 6,869,473 (-)Ensembl
RefSeq Acc Id: NM_031058   ⟹   NP_112320
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8612,567,368 - 12,626,503 (-)NCBI
mRatBN7.266,813,795 - 6,872,930 (-)NCBI
Rnor_6.0611,215,951 - 11,274,916 (-)NCBI
Rnor_5.0621,198,374 - 21,256,838 (-)NCBI
RGSC_v3.4611,199,906 - 11,258,350 (+)RGD
Celera66,571,260 - 6,630,220 (-)RGD
Sequence:
RefSeq Acc Id: XM_039112994   ⟹   XP_038968922
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8612,567,368 - 12,626,534 (-)NCBI
mRatBN7.266,813,793 - 6,872,960 (-)NCBI
Protein Sequences
Protein RefSeqs NP_112320 (Get FASTA)   NCBI Sequence Viewer  
  XP_038968922 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI61846 (Get FASTA)   NCBI Sequence Viewer  
  CAA63789 (Get FASTA)   NCBI Sequence Viewer  
  EDM02635 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000021538.3
  ENSRNOP00000088140.1
GenBank Protein P54275 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_112320   ⟸   NM_031058
- UniProtKB: P54275 (UniProtKB/Swiss-Prot),   B1WBQ7 (UniProtKB/TrEMBL),   F7FQ51 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000021538   ⟸   ENSRNOT00000021538
RefSeq Acc Id: XP_038968922   ⟸   XM_039112994
- Peptide Label: isoform X1
- UniProtKB: P54275 (UniProtKB/Swiss-Prot)
Ensembl Acc Id: ENSRNOP00000088140   ⟸   ENSRNOT00000100386
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P54275-F1-model_v2 AlphaFold P54275 1-933 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13694395
Promoter ID:EPDNEW_R4920
Type:multiple initiation site
Name:Msh2_1
Description:mutS homolog 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0611,274,966 - 11,275,026EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:620786 AgrOrtholog
BioCyc Gene G2FUF-38745 BioCyc
Ensembl Genes ENSRNOG00000015796 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000021538.8 UniProtKB/TrEMBL
  ENSRNOT00000100386.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1420.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.420.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.1170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:9029023 IMAGE-MGC_LOAD
InterPro DNA_mismatch_repair_Msh2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_mismatch_repair_MutS-lik_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_mismatch_repair_MutS_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_mismatch_repair_MutS_clamp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_mismatch_repair_MutS_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_mismatch_repair_MutS_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_mismatch_repair_MutS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_mmatch_repair_MutS_con_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Msh2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MutS_con_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MutS_family UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:81709 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGC_CLONE MGC:187365 IMAGE-MGC_LOAD
NCBI Gene 81709 ENTREZGENE
PANTHER PTHR11361 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11361:SF35 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MutS_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MutS_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MutS_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MutS_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MutS_V UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MSH2 RGD
PhenoGen Msh2 PhenoGen
PIRSF MSH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DNA_MISMATCH_REPAIR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000015796 RatGTEx
SMART MUTSac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUTSd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48334 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I6AA57_RAT UniProtKB/TrEMBL
  B1WBQ7 ENTREZGENE, UniProtKB/TrEMBL
  F7FQ51 ENTREZGENE, UniProtKB/TrEMBL
  MSH2_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-11-19 Msh2  mutS homolog 2  Msh2  mutS homolog 2 (E. coli)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-01-20 Msh2  mutS homolog 2 (E. coli)    mismatch repair protein  Name updated 1299863 APPROVED
2002-08-07 Msh2  mismatch repair protein      Symbol and Name status set to provisional 70820 PROVISIONAL

RGD Curation Notes
Note Type Note Reference
gene_expression greatest expression at 20 days of age in testes 729069
gene_protein 933 amino acids 729069