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lysine methyltransferase 2D

Summary

Gene Symbol

KMT2D

Organism

Homo sapiens (human)

External Links

NCBI Gene

8085

PubChem

8085

Alliance of Genome Resources

HGNC:7133

JoGo

KMT2D

TogoVar

KMT2D

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Chromatin regulator
Coiled coil
Congenital hypothyroidism
Deafness
Disease variant
Intellectual disability
Isopeptide bond
Methylation
Methyltransferase
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
S-adenosyl-L-methionine
Transcription regulation
Ubl conjugation
Zinc-finger

Proteins

Displaying **all 3** entries
UniProt	Protein Name
Q6PIA1
O14686	ALL1-related protein Myeloid/lymphoid or mixed-lineage leukemia protein 2
Q59FG6

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 16 in total

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GO Term	Evidence Code	PMID
oocyte growth	ISS
oocyte growth	IEA
regulation of transcription, DNA-templated	NAS
regulation of DNA-templated transcription	NAS
positive regulation of cell population proliferation	IMP

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

methylation

cell growth [inference]

developmental cell growth [inference]

oocyte growth

cellular process involved in reproduction in multicellular organism [inference]

germ cell development [inference]

oogenesis

cellular developmental process [inference]

cell development [inference]

germ cell development [inference]

oogenesis

cellular component organization or biogenesis [inference]

cellular component organization [inference]

chromatin organization [inference]

chromatin remodeling [inference]

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

heterochromatin organization [inference]

heterochromatin formation

cellular component assembly [inference]

heterochromatin formation

protein-containing complex assembly [inference]

beta-catenin-TCF complex assembly

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

beta-catenin-TCF complex assembly

reproductive process [inference]

developmental process involved in reproduction [inference]

oocyte growth

germ cell development [inference]

oogenesis

multicellular organismal reproductive process [inference]

gamete generation [inference]

female gamete generation [inference]

oogenesis

cellular process involved in reproduction in multicellular organism [inference]

germ cell development [inference]

oogenesis

developmental process [inference]

developmental process involved in reproduction [inference]

oocyte growth

germ cell development [inference]

oogenesis

anatomical structure development [inference]

cell development [inference]

germ cell development [inference]

oogenesis

cellular developmental process [inference]

cell development [inference]

germ cell development [inference]

oogenesis

growth [inference]

cell growth [inference]

developmental cell growth [inference]

oocyte growth

developmental growth [inference]

developmental cell growth [inference]

oocyte growth

response to stimulus [inference]

response to endogenous stimulus [inference]

response to hormone [inference]

response to estrogen

response to chemical [inference]

response to hormone [inference]

response to estrogen

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

regulation of intracellular signal transduction [inference]

regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

regulation of intracellular estrogen receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

positive regulation of biological process [inference]

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

positive regulation of cellular process [inference]

positive regulation of cell population proliferation

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

regulation of intracellular signal transduction [inference]

regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

regulation of intracellular estrogen receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

regulation of intracellular signal transduction [inference]

regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

regulation of intracellular estrogen receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of transcription, DNA-templated

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of transcription, DNA-templated

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation

positive regulation of cellular process [inference]

positive regulation of cell population proliferation

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of intracellular steroid hormone receptor signaling pathway [inference]

positive regulation of intracellular estrogen receptor signaling pathway

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
nucleus	EXP
nucleus	NAS
nucleus	IEA
nucleoplasm	TAS
histone methyltransferase complex	IEA

GO Hierarchy

cellular component

protein-containing complex [inference]

nuclear protein-containing complex [inference]

histone methyltransferase complex

MLL3/4 complex

catalytic complex [inference]

transferase complex [inference]

methyltransferase complex [inference]

histone methyltransferase complex

MLL3/4 complex

cellular anatomical structure [inference]

nucleoplasm

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
transcription cis-regulatory region binding	IDA
DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
DNA binding	NAS
transcription coactivator activity	IBA
protein binding	IPI

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring one-carbon groups [inference]

methyltransferase activity [inference]

N-methyltransferase activity [inference]

lysine N-methyltransferase activity [inference]

protein-lysine N-methyltransferase activity [inference]

histone H3K4 methyltransferase activity

histone H3K4 monomethyltransferase activity

protein methyltransferase activity [inference]

protein-lysine N-methyltransferase activity [inference]

histone H3K4 methyltransferase activity

histone H3K4 monomethyltransferase activity

histone methyltransferase activity [inference]

histone H3 methyltransferase activity [inference]

histone H3K4 methyltransferase activity

histone H3K4 monomethyltransferase activity

S-adenosylmethionine-dependent methyltransferase activity [inference]

lysine N-methyltransferase activity [inference]

protein-lysine N-methyltransferase activity [inference]

histone H3K4 methyltransferase activity

histone H3K4 monomethyltransferase activity

catalytic activity, acting on a protein [inference]

protein methyltransferase activity [inference]

protein-lysine N-methyltransferase activity [inference]

histone H3K4 methyltransferase activity

histone H3K4 monomethyltransferase activity

histone methyltransferase activity [inference]

histone H3 methyltransferase activity [inference]

histone H3K4 methyltransferase activity

histone H3K4 monomethyltransferase activity

histone modifying activity [inference]

histone methyltransferase activity [inference]

histone H3 methyltransferase activity [inference]

histone H3K4 methyltransferase activity

histone H3K4 monomethyltransferase activity

binding [inference]

nucleic acid binding [inference]

transcription regulatory region nucleic acid binding [inference]

transcription cis-regulatory region binding

DNA binding

double-stranded DNA binding [inference]

sequence-specific double-stranded DNA binding [inference]

transcription cis-regulatory region binding

sequence-specific DNA binding [inference]

sequence-specific double-stranded DNA binding [inference]

transcription cis-regulatory region binding

protein binding

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

zinc ion binding

transcription regulator activity [inference]

DNA-binding transcription factor activity [inference]

DNA-binding transcription factor activity, RNA polymerase II-specific [inference]

DNA-binding transcription activator activity, RNA polymerase II-specific

DNA-binding transcription activator activity [inference]

DNA-binding transcription activator activity, RNA polymerase II-specific

transcription coregulator activity [inference]

transcription coactivator activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

histone-lysine n-methyltransferase

Functional Category

C: Energy production and conversion
J: Translation, ribosomal structure and biogenesis
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
histone H3K4 methyltransferase activity
histone binding
metal ion binding
transferase activity

Displaying **all 7** entries
InterPro
Extended PHD (ePHD) domain
FY-rich, C-terminal
FY-rich, N-terminal
SET domain superfamily
SET domain
Zinc finger, PHD-type
Zinc finger, RING/FYVE/PHD-type

Disease

Disease Ontology

Displaying **all 8** entries
DO ID	Disease Name	Source
DOID:0060473	Kabuki syndrome	Alliance of Genome Resources
DOID:10941	intracranial aneurysm	Alliance of Genome Resources
DOID:3717	gastric adenocarcinoma	Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma	Alliance of Genome Resources
DOID:3907	lung squamous cell carcinoma	Alliance of Genome Resources
DOID:3908	lung non-small cell carcinoma	Alliance of Genome Resources
DOID:3969	papillary thyroid carcinoma	Alliance of Genome Resources
DOID:5409	lung small cell carcinoma	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements