RecName: Full=Histone-lysine N-methyltransferase 2D; Short=Lysine N-me - Protein

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[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].
Fan H, Wang Y, Wu Y, Jia L, Wang L, Shen Y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 May 10; 41(5):546-550.
Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome. [Mol Genet Genomic Med. 2024]
Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.
Zheng Z, Ding L, Wang M, Zhang Y, Yang Y, Tang M, Xu J, Wang L, Wu J, Li H. Mol Genet Genomic Med. 2024 Jan; 12(1):e2306. Epub 2023 Nov 3.
[Two novel and de novo KMT2D mutations on the same allele cause Kabuki syndrome]. [Zhonghua Kou Qiang Yi Xue Za Z...]
[Two novel and de novo KMT2D mutations on the same allele cause Kabuki syndrome].
Wu ZY, Yue HT, Li J, Yang JG, Bian Z, He M. Zhonghua Kou Qiang Yi Xue Za Zhi. 2023 Aug 9; 58(8):809-814.

RefSeq genomic sequence
See the genomic reference sequence for the KMT2D gene (NG_027827.1).
RefSeq protein
See the reference protein sequence for histone-lysine N-methyltransferase 2D (NP_003473.3).

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O14686 [Domain Mapping of Disease Mut...]
O14686
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Histone-lysine N-methyltransferase 2D; Short=Lysine N-methyltransf...
RecName: Full=Histone-lysine N-methyltransferase 2D; Short=Lysine N-methyltransferase 2D; AltName: Full=ALL1-related protein; AltName: Full=Myeloid/lymphoid or mixed-lineage leukemia protein 2
gi|313104132|sp|O14686.2|KMT2D_HUMA

Protein
RecName: Full=DNA methyltransferase 1-associated protein 1; Short=DNMAP1; Short=...
RecName: Full=DNA methyltransferase 1-associated protein 1; Short=DNMAP1; Short=DNMT1-associated protein 1
gi|20138031|sp|Q9NPF5.1|DMAP1_HUMAN

Protein
Mixture/Component Compounds for PubChem Compound (Select 16051935... (2)
Mixture/Component Compounds for PubChem Compound (Select 16051935)
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PubChem Compound
Syt1 Synaptotagmin 1 [Drosophila melanogaster]
Syt1 Synaptotagmin 1 [Drosophila melanogaster]
Gene ID:33473

Gene
Gene (GeneRIF) Links for PubMed (Select 14634669) (1)
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Protein