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Aliases for KMT2D Gene

Aliases for KMT2D Gene

  • Lysine Methyltransferase 2D 2 3 5
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia 2 2 3
  • Lysine (K)-Specific Methyltransferase 2D 2 3
  • Trinucleotide Repeat Containing 21 2 3
  • Lysine N-Methyltransferase 2D 3 4
  • ALL1-Related Protein 3 4
  • MLL2 3 4
  • MLL4 3 4
  • ALR 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 2 4
  • Histone-Lysine N-Methyltransferase MLL2 3
  • Histone-Lysine N-Methyltransferase 2D 3
  • Kabuki Mental Retardation Syndrome 3
  • Kabuki Make-Up Syndrome 3
  • EC 2.1.1.43 4
  • CAGL114 3
  • KABUK1 3
  • TNRC21 3
  • AAD10 3
  • KMS 3

External Ids for KMT2D Gene

Previous HGNC Symbols for KMT2D Gene

  • TNRC21
  • MLL2

Previous GeneCards Identifiers for KMT2D Gene

  • GC12M049413

Summaries for KMT2D Gene

Entrez Gene Summary for KMT2D Gene

  • The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]

CIViC summary for KMT2D Gene

GeneCards Summary for KMT2D Gene

KMT2D (Lysine Methyltransferase 2D) is a Protein Coding gene. Diseases associated with KMT2D include Kabuki Syndrome 1 and Kmt2d-Related Kabuki Syndrome. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Chromatin organization. GO annotations related to this gene include transcription regulatory region DNA binding and histone-lysine N-methyltransferase activity. An important paralog of this gene is KMT2C.

UniProtKB/Swiss-Prot for KMT2D Gene

  • Histone methyltransferase. Methylates Lys-4 of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.

Gene Wiki entry for KMT2D Gene

Additional gene information for KMT2D Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KMT2D Gene

Genomics for KMT2D Gene

Regulatory Elements for KMT2D Gene

Enhancers for KMT2D Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H048865 1.1 ENCODE 127.2 +195.7 195665 2 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 DDX23 KMT2D KANSL2 LOC390314 CCNT1 LMBR1L SENP1 BCDIN3D PRPF40B ENSG00000257964
GH12H049129 1.5 ENCODE dbSUPER 73.1 -69.5 -69472 4 MLX FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 DDX23 SMARCD1 LMBR1L LOC390314 KMT2D BCDIN3D PRPF40B KANSL2 CCNT1 LOC100422296
GH12H049055 1.7 FANTOM5 ENCODE dbSUPER 56.7 +3.4 3393 6 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC ZFP41 MEF2D DDX23 LOC390314 LMBR1L CCNT1 KANSL2 KMT2D SENP1 LOC100422296 PRPF40B OR5BK1P
GH12H049263 1.4 ENCODE dbSUPER 67.7 -204.6 -204634 6 DMAP1 YY1 ZNF143 SP3 NFYC ZFP41 MEF2D GLIS1 NBN NR2C1 DDX23 CCNT1 KMT2D LMBR1L KANSL2 LOC390314 SMARCD1 BCDIN3D ENSG00000257298 ENSG00000257964
GH12H050056 1.3 ENCODE dbSUPER 60.2 -995.6 -995576 1 ZNF493 ZNF133 ARID4B SIN3A GLI4 ZNF2 GLIS2 ZNF302 ZNF416 ZNF207 KMT2D SMARCD1 LMBR1L LIMA1 ATF1 BCDIN3D LOC101927267 LOC100422296 PRPF40B CERS5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KMT2D on UCSC Golden Path with GeneCards custom track

Promoters for KMT2D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000051567 1995 3401 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC ZFP41 MEF2D

Genomic Location for KMT2D Gene

Chromosome:
12
Start:
49,018,975 bp from pter
End:
49,061,895 bp from pter
Size:
42,921 bases
Orientation:
Minus strand

Genomic View for KMT2D Gene

Genes around KMT2D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KMT2D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KMT2D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KMT2D Gene

Proteins for KMT2D Gene

  • Protein details for KMT2D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14686-KMT2D_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase 2D
    Protein Accession:
    O14686
    Secondary Accessions:
    • O14687

    Protein attributes for KMT2D Gene

    Size:
    5537 amino acids
    Molecular mass:
    593389 Da
    Quaternary structure:
    • Component of the MLL2/3 complex (also named ASCOM complex), at least composed of KMT2D/MLL2 or KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin. Interacts with ESR1; interaction is direct.
    Miscellaneous:
    • This gene mapped to a chromosomal region involved in duplications and translocations associated with cancer.

    Three dimensional structures from OCA and Proteopedia for KMT2D Gene

    Alternative splice isoforms for KMT2D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KMT2D Gene

Post-translational modifications for KMT2D Gene

  • Ubiquitination at posLast=44654465
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KMT2D Gene

Domains & Families for KMT2D Gene

Gene Families for KMT2D Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O14686

UniProtKB/Swiss-Prot:

KMT2D_HUMAN :
  • LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
Domain:
  • LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
genes like me logo Genes that share domains with KMT2D: view

Function for KMT2D Gene

Molecular function for KMT2D Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot Function:
Histone methyltransferase. Methylates Lys-4 of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.

Enzyme Numbers (IUBMB) for KMT2D Gene

Phenotypes From GWAS Catalog for KMT2D Gene

Gene Ontology (GO) - Molecular Function for KMT2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 9247308
GO:0005515 protein binding IPI 12482968
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0018024 histone-lysine N-methyltransferase activity TAS --
genes like me logo Genes that share ontologies with KMT2D: view
genes like me logo Genes that share phenotypes with KMT2D: view

Human Phenotype Ontology for KMT2D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for KMT2D Gene

miRTarBase miRNAs that target KMT2D

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KMT2D
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for KMT2D Gene

Localization for KMT2D Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT2D Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KMT2D gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KMT2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 9247308
GO:0005654 nucleoplasm TAS --
GO:0035097 histone methyltransferase complex IPI 14992727
GO:0044666 MLL3/4 complex IDA 17500065
genes like me logo Genes that share ontologies with KMT2D: view

Pathways & Interactions for KMT2D Gene

genes like me logo Genes that share pathways with KMT2D: view

SIGNOR curated interactions for KMT2D Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for KMT2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001555 oocyte growth ISS --
GO:0006342 chromatin silencing ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 9247308
GO:0008284 positive regulation of cell proliferation IMP 16603732
genes like me logo Genes that share ontologies with KMT2D: view

Drugs & Compounds for KMT2D Gene

(8) Drugs for KMT2D Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Entacapone Approved, Investigational Pharma COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation 54
L-Lysine Approved Nutra Full agonist, Agonist 0
s-adenosylhomocysteine Experimental Pharma 0
EPZ004777 Pharma DOT1L inhibitor 0
PFI-2 Pharma 0

(4) Additional Compounds for KMT2D Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
(S)-PFI 2 hydrochloride
1627607-88-8
OICR 9429
UNC 0638
1255517-77-1

(5) Tocris Compounds for KMT2D Gene

Compound Action Cas Number
(S)-PFI 2 hydrochloride Negative control of (R)-PFI 2 hydrochloride (Cat. No. 4892) 1627607-88-8
Chaetocin SUV39H1 inhibitor 28097-03-2
OICR 9429 High affinity and selective WDR5 antagonist
UNC 0638 Selective G9a and GLP inhibitor 1255517-77-1
UNC 2400 Negative control of UNC 1999 (Cat. No. 4904) 1433200-49-7

(4) ApexBio Compounds for KMT2D Gene

Compound Action Cas Number
Entacapone COMT inhibitor 130929-57-6
EPZ004777 DOT1L inhibitor 1338466-77-5
PFI-2 1627676-59-8
SGI-1027 DNMT inhibitor 1020149-73-8
genes like me logo Genes that share compounds with KMT2D: view

Drug Products

Transcripts for KMT2D Gene

mRNA/cDNA for KMT2D Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KMT2D
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KMT2D Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41 ^ 42a · 42b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:

Relevant External Links for KMT2D Gene

GeneLoc Exon Structure for
KMT2D
ECgene alternative splicing isoforms for
KMT2D

Expression for KMT2D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KMT2D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KMT2D Gene

This gene is overexpressed in Cervix (17.5), Gallbladder (17.2), and Blymphocyte (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KMT2D Gene



NURSA nuclear receptor signaling pathways regulating expression of KMT2D Gene:

KMT2D

mRNA Expression by UniProt/SwissProt for KMT2D Gene:

O14686-KMT2D_HUMAN
Tissue specificity: Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.

Evidence on tissue expression from TISSUES for KMT2D Gene

  • Liver(4.4)
  • Blood(3.4)
  • Nervous system(2.9)
  • Muscle(2.5)
  • Intestine(2.1)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KMT2D Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tooth
Thorax:
  • aorta
  • breast
  • bronchus
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • trachea
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with KMT2D: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for KMT2D Gene

Orthologs for KMT2D Gene

This gene was present in the common ancestor of animals.

Orthologs for KMT2D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100610362 33
  • 99.4 (n)
KMT2D 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KMT2D 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KMT2D 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kmt2d 33 16 34
  • 86.93 (n)
rat
(Rattus norvegicus)
Mammalia Kmt2d 33
  • 86.58 (n)
oppossum
(Monodelphis domestica)
Mammalia KMT2D 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KMT2D 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 55 (a)
OneToMany
-- 34
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia KMT2D 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kmt2d 33
  • 61.5 (n)
Str.20172 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16861 33
zebrafish
(Danio rerio)
Actinopterygii kmt2d 34
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta trr 34
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea set-16 34
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToOne
Species where no ortholog for KMT2D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KMT2D Gene

ENSEMBL:
Gene Tree for KMT2D (if available)
TreeFam:
Gene Tree for KMT2D (if available)

Paralogs for KMT2D Gene

Paralogs for KMT2D Gene

(3) SIMAP similar genes for KMT2D Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KMT2D: view

Variants for KMT2D Gene

Sequence variations from dbSNP and Humsavar for KMT2D Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs111266743 Kabuki syndrome 1 (KABUK1) [MIM:147920] 49,044,235(+) CCTCC(A/C/G)CCTGT nc-transcript-variant, reference, missense
rs200088180 Uncertain significance, Kabuki syndrome 1 (KABUK1) [MIM:147920] 49,051,743(+) CAGGT(C/G/T)GGGGG nc-transcript-variant, reference, missense
rs200245957 Uncertain significance, Kabuki syndrome 1 (KABUK1) [MIM:147920] 49,053,017(+) ACTCC(A/C/G)AGTTG nc-transcript-variant, reference, missense
rs202217665 Likely benign, Kabuki syndrome 1 (KABUK1) [MIM:147920] 49,048,038(+) CCCCC(A/C/T)GGCCA nc-transcript-variant, reference, missense
rs267607237 Pathogenic, Kabuki syndrome 1 (KABUK1) [MIM:147920] 49,026,430(-) GTTCC(A/G)TGTGG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KMT2D Gene

Variant ID Type Subtype PubMed ID
dgv814n106 CNV deletion 24896259
esv2662608 CNV deletion 23128226
nsv1069663 CNV deletion 25765185
nsv558833 CNV loss 21841781
nsv700 CNV insertion 18451855
nsv826366 CNV gain 20364138
nsv832404 CNV gain 17160897
nsv952174 CNV deletion 24416366

Variation tolerance for KMT2D Gene

Residual Variation Intolerance Score: 0.0783% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.74; 78.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KMT2D Gene

Human Gene Mutation Database (HGMD)
KMT2D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KMT2D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT2D Gene

Disorders for KMT2D Gene

MalaCards: The human disease database

(9) MalaCards diseases for KMT2D Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
kmt2d-related kabuki syndrome
  • mll2-related kabuki syndrome
spinocerebellar ataxia 2
  • amyotrophic lateral sclerosis 13
corneal staphyloma
tanycytic ependymoma
- elite association - COSMIC cancer census association via MalaCards
Search KMT2D in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KMT2D_HUMAN
  • Kabuki syndrome 1 (KABUK1) [MIM:147920]: A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. {ECO:0000269 PubMed:20711175, ECO:0000269 PubMed:21280141, ECO:0000269 PubMed:21607748, ECO:0000269 PubMed:21658225, ECO:0000269 PubMed:21671394, ECO:0000269 PubMed:22126750, ECO:0000269 PubMed:23320472, ECO:0000269 PubMed:23913813, ECO:0000269 PubMed:24739679}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KMT2D

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KMT2D
genes like me logo Genes that share disorders with KMT2D: view

No data available for Genatlas for KMT2D Gene

Publications for KMT2D Gene

  1. Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax. (PMID: 9247308) Prasad R … Canaani E (Oncogene 1997) 2 3 4 22 60
  2. Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. (PMID: 24739679) Cheon CK … Jeong SY (Journal of human genetics 2014) 3 4 60
  3. MLL2 and KDM6A mutations in patients with Kabuki syndrome. (PMID: 23913813) Miyake N … Niikawa N (American journal of medical genetics. Part A 2013) 3 4 60
  4. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. (PMID: 23320472) Makrythanasis P … Hoischen A (Clinical genetics 2013) 3 4 60
  5. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. (PMID: 22126750) Banka S … Donnai D (European journal of human genetics : EJHG 2012) 3 4 60

Products for KMT2D Gene

Sources for KMT2D Gene

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