Kmt2e MGI Mouse Gene Detail - MGI:1924825 - lysine (K)-specific methyltransferase 2E

Kmt2e Gene Detail

Symbol

Kmt2e
Name

lysine (K)-specific methyltransferase 2E
Synonyms

1810033J14Rik, 9530077A04Rik, D230038D11Rik, Mll5

Feature Type

protein coding gene
IDs

MGI:1924825
NCBI Gene: 69188

Sequence Map

Chr5:23434441-23504235 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
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Sequence

69795 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 10.33 cM, cytoband A3
Mapping Data

2 experiments

Human Ortholog

KMT2E, lysine methyltransferase 2E

Vertebrate Orthologs

10

Human Ortholog

KMT2E, lysine methyltransferase 2E
Orthology source: HomoloGene, HGNC
Synonyms

HDCMC04P, MLL5, NKp44L
Links

HGNC:18541

NCBI Gene ID: 55904

neXtProt AC: NX_Q8IZD2

UniProt: Q8IZD2
Chr Location

7q22.3; chr7:105014190-105114085 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 18822
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: KMT2E
Gene Tree

Kmt2e

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References

1 with disease annotations

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Phenotype Summary

51 phenotypes from 3 alleles in 3 genetic backgrounds
23 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

66
Chemically induced (other)

2
Gene trapped

57
Radiation induced

1
Spontaneous

1
Targeted

5
Genomic Mutations

4 involving Kmt2e
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

65 strains or lines available

Mice homozygous for a null allele exhibit neonatal and postnatal lethality, reduced fertility and growth, and abnormal lymphopoiesis.

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All GO Annotations

15
GO References

3

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

110
Tissues

110
cDNA Data

17
Literature Summary

5

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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Kmt2e interacts with 349 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

80
RefSeq

12
UniProt

7
CCDS

CCDS51430.1

			Length	Strain/Species	Flank
genomic	OTTMUSG00000021312	VEGA Gene Model \| MGI Sequence Detail	69795	C57BL/6J	± kb
transcript	OTTMUST00000050528	VEGA \| MGI Sequence Detail	7252	Not Applicable
polypeptide	OTTMUSP00000023599	VEGA \| MGI Sequence Detail	1868	Not Applicable

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SNPs within 2kb

311 from dbSNP Build 142

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UniProt

7 Sequences
Protein Ontology

PR:000010448 histone-lysine N-methyltransferase 2E

(term hierarchy)
EC

2.1.1.43
InterPro Domains

IPR001214 SET domain

IPR011011 Zinc finger, FYVE/PHD-type

IPR019787 Zinc finger, PHD-finger

IPR001965 Zinc finger, PHD-type

IPR019786 Zinc finger, PHD-type, conserved site

IPR013083 Zinc finger, RING/FYVE/PHD-type

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All nucleic 22

cDNA 21

Primer pair 1

Microarray probesets 8

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MGI:1916438, MGI:1925809

Summaries

All 52

Developmental Gene Expression 5

Diseases 1

Gene Ontology 3

Phenotypes 23
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:239131 Tasdogan A, et al., DNA Damage-Induced HSPC Malfunction Depends on ROS Accumulation Downstream of IFN-1 Signaling and Bid Mobilization. Cell Stem Cell. 2016 Dec 01;19(6):752-767

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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