Kmt2d (lysine methyltransferase 2D) - Rat Genome Database

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Gene: Kmt2d (lysine methyltransferase 2D) Rattus norvegicus
Analyze
Symbol: Kmt2d (Ensembl: Prkag1)
Name: lysine methyltransferase 2D (Ensembl:protein kinase AMP-activated non-catalytic subunit gamma 1)
RGD ID: 2324324
Description: Predicted to enable histone H3K4 methyltransferase activity and transcription coactivator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be part of MLL3/4 complex. Human ortholog(s) of this gene implicated in Kabuki syndrome; carcinoma (multiple); and intracranial aneurysm. Orthologous to human KMT2D (lysine methyltransferase 2D); PARTICIPATES IN histone modification pathway; lysine degradation pathway; INTERACTS WITH 17beta-estradiol; 4,4'-sulfonyldiphenol; amphetamine.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: histone-lysine N-methyltransferase 2D; LOC100362634; lysine (K)-specific methyltransferase 2D; Mll2; myeloid/lymphoid or mixed-lineage leukemia 2
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87131,859,696 - 131,901,032 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl7131,859,696 - 131,900,072 (-)EnsemblGRCr8
mRatBN7.27129,980,744 - 130,022,088 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7129,962,887 - 130,020,325 (-)EnsemblmRatBN7.2
Rnor_6.07140,507,137 - 140,542,479 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7140,489,492 - 140,546,908 (-)Ensemblrn6Rnor6.0
Rnor_5.0X115,017,255 - 115,057,219 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.47137,601,739 - 137,639,556 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera7126,471,456 - 126,508,631 (-)NCBICelera
Cytogenetic Map7q36NCBI
JBrowse:




Disease Annotations     Click to see Annotation Detail View
autism spectrum disorder  (ISO)
autistic disorder  (ISO)
autosomal dominant intellectual developmental disorder 26  (ISO)
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME  (ISO)
Branchial Cleft Anomalies  (ISO)
breast cancer  (ISO)
breast carcinoma  (ISO)
Breast Neoplasms  (ISO)
CAKUT  (ISO)
Carotid Atherosclerosis  (ISO)
CHARGE syndrome  (ISO)
choanal atresia  (ISO)
colon carcinoma  (ISO)
Complement Component C1s Deficiency  (ISO)
Dandy-Walker syndrome  (ISO)
diffuse large B-cell lymphoma  (ISO)
eccrine porocarcinoma  (ISO)
epilepsy  (ISO)
esophagus squamous cell carcinoma  (ISO)
follicular lymphoma  (ISO)
gastric adenocarcinoma  (ISO)
gastrointestinal lymphoma  (ISO)
genetic disease  (ISO)
hereditary nonpolyposis colorectal cancer type 5  (ISO)
intellectual disability  (ISO)
Intervertebral Disc Displacement  (ISO)
intracranial aneurysm  (ISO)
Kabuki syndrome  (ISO,ISS)
Kabuki Syndrome 1  (ISO)
lung cancer  (ISO)
lung non-small cell carcinoma  (ISO)
lung small cell carcinoma  (ISO)
lung squamous cell carcinoma  (ISO)
Lymphatic Metastasis  (ISO)
lymphoma  (ISO)
male infertility  (ISO)
malignant astrocytoma  (ISO)
meningioma  (ISO)
microcephaly  (ISO)
multiple myeloma  (ISO)
Neoplasm Metastasis  (ISO)
Nervous System Malformations  (ISO)
Neurodevelopmental Disorders  (ISO)
oral squamous cell carcinoma  (ISO)
papillary thyroid carcinoma  (ISO)
Phyllodes Tumor  (ISO)
prostate cancer  (ISO)
Prostatic Neoplasms  (ISO)
Rubinstein Taybi like Syndrome  (ISO)
Sezary's disease  (ISO)
Smith-Magenis syndrome  (ISO)
spermatogenic failure 5  (ISO)
stomach cancer  (ISO)
T-cell non-Hodgkin lymphoma  (ISO)
tetralogy of Fallot  (ISO)
type 2 diabetes mellitus  (ISO)
urinary bladder cancer  (ISO)
Vein of Galen Aneurysm  (ISO)
VISS syndrome  (ISO)
visual epilepsy  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. High MLL2 expression predicts poor prognosis and promotes tumor progression by inducing EMT in esophageal squamous cell carcinoma. Abudureheman A, etal., J Cancer Res Clin Oncol. 2018 Jun;144(6):1025-1035. doi: 10.1007/s00432-018-2625-5. Epub 2018 Mar 12.
2. KMT2D Mutation Is Associated With Poor Prognosis in Non-Small-Cell Lung Cancer. Ardeshir-Larijani F, etal., Clin Lung Cancer. 2018 Jul;19(4):e489-e501. doi: 10.1016/j.cllc.2018.03.005. Epub 2018 Mar 16.
3. Small Cell Lung Cancer Exhibits Frequent Inactivating Mutations in the Histone Methyltransferase KMT2D/MLL2: CALGB 151111 (Alliance). Augert A, etal., J Thorac Oncol. 2017 Apr;12(4):704-713. doi: 10.1016/j.jtho.2016.12.011. Epub 2016 Dec 19.
4. Histone lysine methylation dynamics: establishment, regulation, and biological impact. Black JC, etal., Mol Cell. 2012 Nov 30;48(4):491-507. doi: 10.1016/j.molcel.2012.11.006.
5. Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function. Choi M, etal., Ann Oncol. 2017 Jan 1;28(1):83-89. doi: 10.1093/annonc/mdw437.
6. Genomic alterations of plasma cell-free DNAs in small cell lung cancer and their clinical relevance. Du M, etal., Lung Cancer. 2018 Jun;120:113-121. doi: 10.1016/j.lungcan.2018.04.008. Epub 2018 Apr 12.
7. Clinical and genetic determinants of ovarian metastases from colorectal cancer. Ganesh K, etal., Cancer. 2017 Apr 1;123(7):1134-1143. doi: 10.1002/cncr.30424. Epub 2016 Nov 22.
8. Genetic landscape of esophageal squamous cell carcinoma. Gao YB, etal., Nat Genet. 2014 Oct;46(10):1097-102. doi: 10.1038/ng.3076. Epub 2014 Aug 24.
9. Mutations in Mll2, an H3K4 methyltransferase, result in insulin resistance and impaired glucose tolerance in mice. Goldsworthy M, etal., PLoS One. 2013 Jun 24;8(6):e61870. doi: 10.1371/journal.pone.0061870. Print 2013.
10. Histone acetylation and methylation significantly change with severity of atherosclerosis in human carotid plaques. Greißel A, etal., Cardiovasc Pathol. 2016 Mar-Apr;25(2):79-86. doi: 10.1016/j.carpath.2015.11.001. Epub 2015 Nov 9.
11. Integrative and comparative genomic analysis of lung squamous cell carcinomas in East Asian patients. Kim Y, etal., J Clin Oncol. 2014 Jan 10;32(2):121-8. doi: 10.1200/JCO.2013.50.8556. Epub 2013 Dec 9.
12. Mutation patterns in a population-based non-small cell lung cancer cohort and prognostic impact of concomitant mutations in KRAS and TP53 or STK11. La Fleur L, etal., Lung Cancer. 2019 Apr;130:50-58. doi: 10.1016/j.lungcan.2019.01.003. Epub 2019 Jan 9.
13. Epigenetic Role of Histone 3 Lysine Methyltransferase and Demethylase in Regulating Apoptosis Predicting the Recurrence of Atypical Meningioma. Lee SH, etal., J Korean Med Sci. 2015 Aug;30(8):1157-66. doi: 10.3346/jkms.2015.30.8.1157. Epub 2015 Jul 15.
14. Genomic Analyses for Predictors of Response to Chemoradiation in Stage III Non-Small Cell Lung Cancer. Luo LY, etal., Adv Radiat Oncol. 2020 Nov 14;6(1):100615. doi: 10.1016/j.adro.2020.10.027. eCollection 2021 Jan-Feb.
15. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Micale L, etal., Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547. Epub 2014 Apr 9.
16. Epigenetic regulator MLL2 shows altered expression in cancer cell lines and tumors from human breast and colon. Natarajan TG, etal., Cancer Cell Int. 2010 Apr 30;10:13. doi: 10.1186/1475-2867-10-13.
17. Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D. Nieminen TT, etal., Thyroid. 2020 Mar;30(3):380-388. doi: 10.1089/thy.2019.0561.
18. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
19. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
20. Altered expression of MLL methyltransferase family genes in breast cancer. Rabello Ddo A, etal., Int J Oncol. 2013 Aug;43(2):653-60. doi: 10.3892/ijo.2013.1981. Epub 2013 Jun 10.
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. Comprehensive gene review and curation RGD comprehensive gene curation
24. The COMPASS family of histone H3K4 methylases: mechanisms of regulation in development and disease pathogenesis. Shilatifard A Annu Rev Biochem. 2012;81:65-95. doi: 10.1146/annurev-biochem-051710-134100.
25. Lung neuroendocrine tumours: deep sequencing of the four World Health Organization histotypes reveals chromatin-remodelling genes as major players and a prognostic role for TERT, RB1, MEN1 and KMT2D. Simbolo M, etal., J Pathol. 2017 Mar;241(4):488-500. doi: 10.1002/path.4853. Epub 2016 Dec 29.
26. Deregulated expression of selected histone methylases and demethylases in prostate carcinoma. Vieira FQ, etal., Endocr Relat Cancer. 2013 Dec 16;21(1):51-61. doi: 10.1530/ERC-13-0375. Print 2014 Feb.
27. Downregulation of KMT2D suppresses proliferation and induces apoptosis of gastric cancer. Xiong W, etal., Biochem Biophys Res Commun. 2018 Sep 26;504(1):129-136. doi: 10.1016/j.bbrc.2018.08.143. Epub 2018 Sep 1.
28. Oxidative stress abrogates the degradation of KMT2D to promote degeneration in nucleus pulposus. Xu W, etal., Biochim Biophys Acta Mol Basis Dis. 2020 Oct 1;1866(10):165888. doi: 10.1016/j.bbadis.2020.165888. Epub 2020 Jun 26.
29. MLL2 protein is a prognostic marker for gastrointestinal diffuse large B-cell lymphoma. Ye H, etal., Int J Clin Exp Pathol. 2015 Oct 1;8(10):13043-50. eCollection 2015.
30. Exome sequencing identifies frequent mutation of MLL2 in non-small cell lung carcinoma from Chinese patients. Yin S, etal., Sci Rep. 2014 Aug 12;4:6036. doi: 10.1038/srep06036.
31. The strong association of left-side heart anomalies with Kabuki syndrome. Yoon JK, etal., Korean J Pediatr. 2015 Jul;58(7):256-62. doi: 10.3345/kjp.2015.58.7.256. Epub 2015 Jul 22.
32. Genetic Risk Factors for Intracranial Aneurysm in the Kazakh Population. Zholdybayeva EV, etal., J Mol Neurosci. 2018 Sep;66(1):135-145. doi: 10.1007/s12031-018-1134-y. Epub 2018 Aug 18.
33. Tumor-infiltrating lymphocyte-derived MLL2 independently predicts disease-free survival for patients with early-stage oral squamous cell carcinoma. Zhu N, etal., J Oral Pathol Med. 2020 Feb;49(2):126-136. doi: 10.1111/jop.12969. Epub 2019 Nov 19.
Additional References at PubMed
PMID:14992727   PMID:16540515   PMID:16603732   PMID:17021013   PMID:17500065   PMID:20808952   PMID:26320581   PMID:26691508  


Genomics

Comparative Map Data
Kmt2d
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87131,859,696 - 131,901,032 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl7131,859,696 - 131,900,072 (-)EnsemblGRCr8
mRatBN7.27129,980,744 - 130,022,088 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7129,962,887 - 130,020,325 (-)EnsemblmRatBN7.2
Rnor_6.07140,507,137 - 140,542,479 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7140,489,492 - 140,546,908 (-)Ensemblrn6Rnor6.0
Rnor_5.0X115,017,255 - 115,057,219 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.47137,601,739 - 137,639,556 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera7126,471,456 - 126,508,631 (-)NCBICelera
Cytogenetic Map7q36NCBI
KMT2D
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381249,018,978 - 49,060,794 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1249,018,975 - 49,060,794 (-)Ensemblhg38GRCh38
GRCh371249,412,761 - 49,454,577 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,699,025 - 47,735,374 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341247,701,829 - 47,735,374NCBI
Celera1248,207,544 - 48,243,891 (-)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1246,444,274 - 46,480,622 (-)NCBIHuRef
CHM1_11249,378,552 - 49,414,901 (-)NCBICHM1_1
T2T-CHM13v2.01248,981,150 - 49,022,967 (-)NCBIT2T-CHM13v2.0
Kmt2d
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391598,729,550 - 98,771,958 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1598,729,550 - 98,769,085 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381598,831,669 - 98,874,077 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1598,831,669 - 98,871,204 (-)Ensemblmm10GRCm38
MGSCv371598,662,100 - 98,701,614 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361598,662,534 - 98,679,000 (-)NCBIMGSCv36mm8
Celera15100,981,213 - 101,020,779 (-)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1554.8NCBI
Kmt2d
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555007,853,292 - 7,886,067 (-)Ensembl
ChiLan1.0NW_0049555007,850,782 - 7,891,703 (-)NCBIChiLan1.0ChiLan1.0
KMT2D
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21045,121,319 - 45,166,200 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11245,118,075 - 45,161,536 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01239,689,463 - 39,731,904 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11240,570,152 - 40,611,463 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1240,575,083 - 40,608,661 (+)EnsemblpanPan2panpan1.1
KMT2D
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1275,516,866 - 5,556,303 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl275,521,804 - 5,553,490 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha2740,701,293 - 40,740,498 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0275,568,146 - 5,607,356 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl275,572,878 - 5,605,905 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1275,532,135 - 5,571,340 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0275,522,102 - 5,561,289 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02741,093,630 - 41,132,835 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Kmt2d
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494566,304,962 - 66,345,590 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365126,822,057 - 6,854,451 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365126,819,240 - 6,860,852 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KMT2D
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1515,049,827 - 15,091,622 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KMT2D
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11145,260,873 - 45,303,898 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1145,263,408 - 45,302,423 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_023666037200,840,502 - 200,883,190 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kmt2d
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248163,133,659 - 3,166,346 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248163,129,127 - 3,169,143 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Kmt2d
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11271,653,647 - 271,692,887 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Kmt2d
380 total Variants

QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
631529Tls2T-lymphoma susceptibility QTL 200.001thymus integrity trait (VT:0010555)percentage of study population developing T-cell lymphomas during a period of time (CMO:0001911)782111382132099989Rat
1354582Stl11Serum triglyceride level QTL 113.42blood triglyceride amount (VT:0002644)serum triglyceride level (CMO:0000360)7121393075137014596Rat
731176Glom5Glomerulus QTL 52.50.0035kidney glomerulus morphology trait (VT:0005325)count of superficial glomeruli not directly contacting the kidney surface (CMO:0001002)798549867137014596Rat
1300112Bp183Blood pressure QTL 1833.51arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)7119280025135560836Rat
1331731Bp216Blood pressure QTL 2162.851arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)7104186212135371468Rat
1331748Bp215Blood pressure QTL 2154.043arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)7110725024135371468Rat
61428Scl3Serum cholesterol level QTL 33.2blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)7100548246137014596Rat
61397Bw17Body weight QTL 176.3body mass (VT:0001259)body weight (CMO:0000012)795485047137014596Rat
1331746Kidm9Kidney mass QTL 93.934kidney mass (VT:0002707)right kidney wet weight (CMO:0000082)782111245134948181Rat
1358914Bp266Blood pressure QTL 266arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)7115313999136544683Rat
2299163Iddm34Insulin dependent diabetes mellitus QTL 342.71blood glucose amount (VT:0000188)age at onset/diagnosis of type 1 diabetes mellitus (CMO:0001140)7116269196132020414Rat
1549899Stresp8Stress response QTL 84.370.0008stress-related behavior trait (VT:0010451)defensive burying duration (CMO:0001961)792362341137014596Rat
1358891Bp265Blood pressure QTL 2652.21arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)771827901136544683Rat

Markers in Region
RH142704  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.27130,021,713 - 130,021,824 (+)MAPPERmRatBN7.2
Rnor_6.07140,548,106 - 140,548,216NCBIRnor6.0
Rnor_5.0X115,058,462 - 115,058,572UniSTSRnor5.0
RGSC_v3.47137,640,943 - 137,641,053UniSTSRGSC3.4
Celera7126,510,661 - 126,510,771UniSTS
RH 3.4 Map71077.4UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
hemolymphoid system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
sensory system
visual system
7 1 18 51 67 138 95 11 50 36 32 17 17

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001427309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_001062568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017595318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017595319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017595320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017595321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017595322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017595323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017595324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC114446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAXUCZ010000007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSRNOT00000077502   ⟹   ENSRNOP00000069442
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl7129,962,887 - 130,020,325 (-)Ensembl
Rnor_6.0 Ensembl7140,489,492 - 140,546,908 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000083354   ⟹   ENSRNOP00000070458
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl7140,489,505 - 140,506,925 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000089544   ⟹   ENSRNOP00000074816
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl7140,490,079 - 140,502,441 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000111826   ⟹   ENSRNOP00000081837
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl7129,962,986 - 130,020,325 (-)Ensembl
RefSeq Acc Id: NM_001427309   ⟹   NP_001414238
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,900,072 (-)NCBI
RefSeq Acc Id: XM_017595321   ⟹   XP_017450810
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,901,031 (-)NCBI
mRatBN7.27129,980,744 - 130,022,087 (-)NCBI
Rnor_6.07140,507,137 - 140,542,479 (-)NCBI
Sequence:
RefSeq Acc Id: XM_063262838   ⟹   XP_063118908
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,901,032 (-)NCBI
RefSeq Acc Id: XM_063262839   ⟹   XP_063118909
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,901,032 (-)NCBI
RefSeq Acc Id: XM_063262840   ⟹   XP_063118910
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,901,032 (-)NCBI
RefSeq Acc Id: XM_063262841   ⟹   XP_063118911
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,901,032 (-)NCBI
RefSeq Acc Id: XM_063262842   ⟹   XP_063118912
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,901,032 (-)NCBI
RefSeq Acc Id: XM_063262843   ⟹   XP_063118913
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,901,031 (-)NCBI
RefSeq Acc Id: XM_063262844   ⟹   XP_063118914
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,901,032 (-)NCBI
RefSeq Acc Id: XM_063262845   ⟹   XP_063118915
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,901,032 (-)NCBI
RefSeq Acc Id: XM_063262846   ⟹   XP_063118916
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,901,031 (-)NCBI
RefSeq Acc Id: XM_063262847   ⟹   XP_063118917
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,901,032 (-)NCBI
RefSeq Acc Id: XM_063262848   ⟹   XP_063118918
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr87131,859,696 - 131,901,032 (-)NCBI
RefSeq Acc Id: XP_017450810   ⟸   XM_017595321
- Peptide Label: isoform X11
- UniProtKB: A0A0G2JVD6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000074816   ⟸   ENSRNOT00000089544
Ensembl Acc Id: ENSRNOP00000069442   ⟸   ENSRNOT00000077502
Ensembl Acc Id: ENSRNOP00000070458   ⟸   ENSRNOT00000083354
Ensembl Acc Id: ENSRNOP00000081837   ⟸   ENSRNOT00000111826
RefSeq Acc Id: XP_063118911   ⟸   XM_063262841
- Peptide Label: isoform X4
RefSeq Acc Id: XP_063118909   ⟸   XM_063262839
- Peptide Label: isoform X2
RefSeq Acc Id: XP_063118918   ⟸   XM_063262848
- Peptide Label: isoform X12
RefSeq Acc Id: XP_063118912   ⟸   XM_063262842
- Peptide Label: isoform X5
RefSeq Acc Id: XP_063118917   ⟸   XM_063262847
- Peptide Label: isoform X10
RefSeq Acc Id: XP_063118915   ⟸   XM_063262845
- Peptide Label: isoform X8
RefSeq Acc Id: XP_063118914   ⟸   XM_063262844
- Peptide Label: isoform X7
RefSeq Acc Id: XP_063118910   ⟸   XM_063262840
- Peptide Label: isoform X3
RefSeq Acc Id: XP_063118908   ⟸   XM_063262838
- Peptide Label: isoform X1
RefSeq Acc Id: XP_063118913   ⟸   XM_063262843
- Peptide Label: isoform X6
RefSeq Acc Id: XP_063118916   ⟸   XM_063262846
- Peptide Label: isoform X9
RefSeq Acc Id: NP_001414238   ⟸   NM_001427309
- UniProtKB: A0A8I5ZVL8 (UniProtKB/TrEMBL)
Protein Domains
PHD-type   Post-SET   RING-type   SET

Transcriptome

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


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:2324324 AgrOrtholog
BioCyc Gene G2FUF-32108 BioCyc
Ensembl Genes ENSRNOG00000061499 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000077502 ENTREZGENE
  ENSRNOT00000077502.3 UniProtKB/TrEMBL
  ENSRNOT00000111826 ENTREZGENE
  ENSRNOT00000111826.2 UniProtKB/TrEMBL
Gene3D-CATH 1.10.30.10 UniProtKB/TrEMBL
  2.170.270.10 UniProtKB/TrEMBL
  3.30.160.360 UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/TrEMBL
InterPro AH/BAR-dom UniProtKB/TrEMBL
  EPHD UniProtKB/TrEMBL
  FYrich_C UniProtKB/TrEMBL
  FYrich_N UniProtKB/TrEMBL
  HMG_box_dom_sf UniProtKB/TrEMBL
  HMG_superfamily UniProtKB/TrEMBL
  KMT2D UniProtKB/TrEMBL
  KMT2D_ePHD1 UniProtKB/TrEMBL
  KMT2D_ePHD2 UniProtKB/TrEMBL
  KMT2D_PHD3 UniProtKB/TrEMBL
  KMT2D_PHD5 UniProtKB/TrEMBL
  Post-SET_dom UniProtKB/TrEMBL
  SET_dom UniProtKB/TrEMBL
  SET_dom_sf UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/TrEMBL
  Znf_PHD UniProtKB/TrEMBL
  Znf_PHD-finger UniProtKB/TrEMBL
  Znf_RING UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/TrEMBL
NCBI Gene 100362634 ENTREZGENE
PANTHER HL01030P-RELATED UniProtKB/TrEMBL
  PTHR45888:SF2 UniProtKB/TrEMBL
Pfam FYRC UniProtKB/TrEMBL
  FYRN UniProtKB/TrEMBL
  PHD UniProtKB/TrEMBL
  SET UniProtKB/TrEMBL
  zf-HC5HC2H UniProtKB/TrEMBL
  zf-HC5HC2H_2 UniProtKB/TrEMBL
PhenoGen Kmt2d PhenoGen
PROSITE EPHD UniProtKB/TrEMBL
  FYRC UniProtKB/TrEMBL
  FYRN UniProtKB/TrEMBL
  POST_SET UniProtKB/TrEMBL
  SET UniProtKB/TrEMBL
  ZF_PHD_2 UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/TrEMBL
RatGTEx ENSRNOG00000061499 RatGTEx
SMART FYRC UniProtKB/TrEMBL
  FYRN UniProtKB/TrEMBL
  HMG UniProtKB/TrEMBL
  PHD UniProtKB/TrEMBL
  PostSET UniProtKB/TrEMBL
  RING UniProtKB/TrEMBL
  SET UniProtKB/TrEMBL
Superfamily-SCOP FYVE_PHD_ZnF UniProtKB/TrEMBL
  HMG-box UniProtKB/TrEMBL
  SSF103657 UniProtKB/TrEMBL
  SSF82199 UniProtKB/TrEMBL
UniProt A0A0G2JVD6 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5ZVL8 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-17 Kmt2d  lysine methyltransferase 2D  Kmt2d  lysine (K)-specific methyltransferase 2D  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2013-05-15 Kmt2d  lysine (K)-specific methyltransferase 2D  Mll2  myeloid/lymphoid or mixed-lineage leukemia 2  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2012-08-29 Mll2  myeloid/lymphoid or mixed-lineage leukemia 2  LOC100362634  myeloid/lymphoid or mixed-lineage leukemia 2  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2010-05-06 LOC100362634  myeloid/lymphoid or mixed-lineage leukemia 2      Symbol and Name status set to provisional 70820 PROVISIONAL