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

Summary

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; histone H3K4 methyltransferase activity; and transcription cis-regulatory region binding activity. Predicted to be involved in several processes, including oocyte growth; 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; carcinoma (multiple); and intracranial aneurysm. Orthologous to human KMT2D (lysine methyltransferase 2D). [provided by Alliance of Genome Resources, Dec 2024]
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

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_086025.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Markers

RH142704 (e-PCR)
- UniSTS:231951

Mll2 (e-PCR), detects polymorphism
- UniSTS:547264

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	IBA Inferred from Biological aspect of Ancestor 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
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor 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	IBA Inferred from Biological aspect of Ancestor 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	IBA Inferred from Biological aspect of Ancestor more info
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

EC 2.1.1.354

EC 2.1.1.364

XP_017450810.1

EC 2.1.1.354

EC 2.1.1.364

XP_063118908.1

EC 2.1.1.354

EC 2.1.1.364

XP_063118909.1

EC 2.1.1.354

EC 2.1.1.364

XP_063118910.1

EC 2.1.1.354

EC 2.1.1.364

XP_063118911.1

EC 2.1.1.354

EC 2.1.1.364

XP_063118912.1

EC 2.1.1.354

EC 2.1.1.364

XP_063118913.1

EC 2.1.1.354

EC 2.1.1.364

XP_063118914.1

EC 2.1.1.354

EC 2.1.1.364

XP_063118915.1

EC 2.1.1.354

EC 2.1.1.364

XP_063118916.1

EC 2.1.1.354

EC 2.1.1.364

XP_063118917.1

EC 2.1.1.354

EC 2.1.1.364

XP_063118918.1

EC 2.1.1.354

EC 2.1.1.364

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)

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

NC_086025.1 Reference GRCr8

Range

131859696..131901032 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063262841.1 → XP_063118911.1 histone-lysine N-methyltransferase 2D isoform X4
XM_063262839.1 → XP_063118909.1 histone-lysine N-methyltransferase 2D isoform X2
XM_063262848.1 → XP_063118918.1 histone-lysine N-methyltransferase 2D isoform X12
XM_063262842.1 → XP_063118912.1 histone-lysine N-methyltransferase 2D isoform X5
XM_063262847.1 → XP_063118917.1 histone-lysine N-methyltransferase 2D isoform X10
XM_063262845.1 → XP_063118915.1 histone-lysine N-methyltransferase 2D isoform X8
XM_063262844.1 → XP_063118914.1 histone-lysine N-methyltransferase 2D isoform X7
XM_063262840.1 → XP_063118910.1 histone-lysine N-methyltransferase 2D isoform X3
XM_063262838.1 → XP_063118908.1 histone-lysine N-methyltransferase 2D isoform X1
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
XM_063262843.1 → XP_063118913.1 histone-lysine N-methyltransferase 2D isoform X6
XM_063262846.1 → XP_063118916.1 histone-lysine N-methyltransferase 2D isoform X9