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Kmt2d lysine methyltransferase 2D [ Rattus norvegicus (Norway rat) ]

Gene ID: 100362634, updated on 13-Jul-2024

Summary

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Official Symbol
Kmt2dprovided by RGD
Official Full Name
lysine methyltransferase 2Dprovided by RGD
Primary source
RGD:2324324
See related
EnsemblRapid:ENSRNOG00000061499 AllianceGenome:RGD:2324324
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
Mll2
Summary
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Predicted to be involved in several processes, including histone H3-K4 methylation; positive regulation of intracellular estrogen receptor signaling pathway; and regulation of gene expression. Predicted to act upstream of or within in utero embryonic development and regulation of gene expression. Predicted to be part of MLL3/4 complex. Human ortholog(s) of this gene implicated in Kabuki syndrome and esophagus squamous cell carcinoma. Orthologous to human KMT2D (lysine methyltransferase 2D). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Adrenal (RPKM 108.9), Spleen (RPKM 99.7) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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See Kmt2d in Genome Data Viewer
Location:
7q36
Exon count:
56
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 7 NC_086025.1 (131859696..131901032, complement)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 7 NC_051342.1 (129980744..130022088, complement)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 7 NC_005106.4 (140507137..140542479, complement)

Chromosome 7 - NC_086025.1Genomic Context describing neighboring genes Neighboring gene tubulin, alpha 1C Neighboring gene protein kinase AMP-activated non-catalytic subunit gamma 1 Neighboring gene dendrin Neighboring gene RHEB like 1 Neighboring gene desert hedgehog signaling molecule

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Oxidative stress abrogates the degradation of KMT2D to promote degeneration in nucleus pulposus. Xu W, et al. Biochim Biophys Acta Mol Basis Dis, 2020 Oct 1. PMID 32599142
  2. Tumor-infiltrating lymphocyte-derived MLL2 independently predicts disease-free survival for patients with early-stage oral squamous cell carcinoma. Zhu N, et al. J Oral Pathol Med, 2020 Feb. PMID 31660637
  3. Genetic Risk Factors for Intracranial Aneurysm in the Kazakh Population. Zholdybayeva EV, et al. J Mol Neurosci, 2018 Sep. PMID 30121816
  4. Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function. Choi M, et al. Ann Oncol, 2017 Jan 1. PMID 28177435, Free PMC Article
  5. Clinical and genetic determinants of ovarian metastases from colorectal cancer. Ganesh K, et al. Cancer, 2017 Apr 1. PMID 27875625, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISO
Inferred from Sequence Orthology
more info
  
enables histone H3K4 methyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables histone H3K4 trimethyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables transcription cis-regulatory region binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in heterochromatin formation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within in utero embryonic development ISO
Inferred from Sequence Orthology
more info
  
involved_in methylation IEA
Inferred from Electronic Annotation
more info
  
involved_in oocyte growth ISO
Inferred from Sequence Orthology
more info
  
involved_in oogenesis ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of intracellular estrogen receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of gene expression ISO
Inferred from Sequence Orthology
more info
  
involved_in response to estrogen ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
part_of MLL3/4 complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
histone-lysine N-methyltransferase 2D
Names
lysine (K)-specific methyltransferase 2D
myeloid/lymphoid or mixed-lineage leukemia 2
NP_001414238.1
XP_017450810.1
XP_063118908.1
XP_063118909.1
XP_063118910.1
XP_063118911.1
XP_063118912.1
XP_063118913.1
XP_063118914.1
XP_063118915.1
XP_063118916.1
XP_063118917.1
XP_063118918.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001427309.1 → NP_001414238.1  histone-lysine N-methyltransferase 2D

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000007
    UniProtKB/TrEMBL
    A0A8I5ZVL8
    Related
    ENSRNOP00000081837.2, ENSRNOT00000111826.2

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

  1. NC_086025.1 Reference GRCr8

    Range
    131859696..131901032 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_063262841.1 → XP_063118911.1  histone-lysine N-methyltransferase 2D isoform X4

  2. XM_063262839.1 → XP_063118909.1  histone-lysine N-methyltransferase 2D isoform X2

  3. XM_063262848.1 → XP_063118918.1  histone-lysine N-methyltransferase 2D isoform X12

  4. XM_063262842.1 → XP_063118912.1  histone-lysine N-methyltransferase 2D isoform X5

  5. XM_063262847.1 → XP_063118917.1  histone-lysine N-methyltransferase 2D isoform X10

  6. XM_063262845.1 → XP_063118915.1  histone-lysine N-methyltransferase 2D isoform X8

  7. XM_063262844.1 → XP_063118914.1  histone-lysine N-methyltransferase 2D isoform X7

  8. XM_063262840.1 → XP_063118910.1  histone-lysine N-methyltransferase 2D isoform X3

  9. XM_063262838.1 → XP_063118908.1  histone-lysine N-methyltransferase 2D isoform X1

  10. XM_017595321.3 → XP_017450810.1  histone-lysine N-methyltransferase 2D isoform X11

    UniProtKB/TrEMBL
    A0A0G2JVD6
    Related
    ENSRNOP00000069442.2, ENSRNOT00000077502.3
    Conserved Domains (11) summary
    smart00398
    Location:1979 → 2030
    HMG; high mobility group
    smart00542
    Location:5247 → 5334
    FYRC; FY-rich domain, C-terminal region
    smart00317
    Location:5404 → 5526
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd15509
    Location:228 → 273
    PHD1_KMT2C_like; PHD finger 1 found in Histone-lysine N-methyltransferase 2C (KMT2C) and 2D (KMT2D)
    cd15513
    Location:1386 → 1432
    PHD5_KMT2C_like; PHD finger 5 found in Histone-lysine N-methyltransferase 2C (KMT2C) and PHD finger 4 found in KMT2D
    cd15597
    Location:1335 → 1385
    PHD3_KMT2D; PHD finger 3 found in Histone-lysine N-methyltransferase 2D (KMT2D)
    cd15601
    Location:1463 → 1513
    PHD5_KMT2D; PHD finger 5 found in Histone-lysine N-methyltransferase 2D (KMT2D)
    cd15695
    Location:134 → 217
    ePHD1_KMT2D; Extended PHD finger 1 found in histone-lysine N-methyltransferase 2D (KMT2D)
    cd15698
    Location:5039 → 5145
    ePHD2_KMT2D; Extended PHD finger 2 found in histone-lysine N-methyltransferase 2D (KMT2D)
    pfam05964
    Location:5189 → 5239
    FYRN; F/Y-rich N-terminus
    cl22851
    Location:275 → 320
    PHD_SF; PHD finger superfamily

  11. XM_063262843.1 → XP_063118913.1  histone-lysine N-methyltransferase 2D isoform X6

  12. XM_063262846.1 → XP_063118916.1  histone-lysine N-methyltransferase 2D isoform X9

Nucleotide Protein Strain
Heading Accession and Version

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