full name
lysine methyltransferase 2D

synonyms
AAD10, ALR, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21, KMT2D, ENSG00000167548

HGNC
HGNC:7133

Entrez Gene
Gene:8085

ENSEMBL
ENSG00000167548

location
chr: 12
start: 49412758
stop: 49453935
strand: -

OMIM
OMIM:602113: KMT2D (Autosomal dominant inheritance)
OMIM:147920: Kabuki syndrome 1

transcripts
NM_003482.3

pathways
Activation of HOX genes during differentiation [NCBI:1339139] [REACTOME:R-HSA-5619507] [PUBMED:25804734] [PUBMED:19923920] [PUBMED:23973942] [PUBMED:20435029] [PUBMED:23650639] [PUBMED:24529385]
Activation of anterior HOX genes in hindbrain development during early embryogenesis [NCBI:1339140] [REACTOME:R-HSA-5617472] [PUBMED:23973942] [PUBMED:19575673] [PUBMED:24529385] [PUBMED:24115586] [PUBMED:18412118] [PUBMED:22770981] [PUBMED:25804734] [PUBMED:10662633] [PUBMED:19923920] [PUBMED:20435029] [PUBMED:10068641] [PUBMED:10668974] [PUBMED:17368312] [PUBMED:18394579] [PUBMED:19651303] [PUBMED:25560970] [PUBMED:16155570] [PUBMED:18816852] [PUBMED:21497760]
Chromatin modifying enzymes [NCBI:1270434] [REACTOME:R-HSA-3247509]
Chromatin organization [NCBI:1270433] [REACTOME:R-HSA-4839726] [PUBMED:21342762] [PUBMED:15598472]
Deactivation of the beta-catenin transactivating complex [NCBI:1269604] [REACTOME:R-HSA-3769402] [PUBMED:18632669] [PUBMED:12408825] [PUBMED:18573912] [PUBMED:11080158] [PUBMED:18077326] [PUBMED:12712206] [PUBMED:12408824] [PUBMED:10898789] [PUBMED:16510874] [PUBMED:15525529] [PUBMED:19364920]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Formation of the beta-catenin:TCF transactivating complex [NCBI:1269602] [REACTOME:R-HSA-201722] [PUBMED:19305417] [PUBMED:18334222] [PUBMED:11713476] [PUBMED:11934263] [PUBMED:22617422] [PUBMED:16751178] [PUBMED:10831834] [PUBMED:21285352] [PUBMED:11136974] [PUBMED:20951344] [PUBMED:19619488]
Lysine degradation [NCBI:82956] [KEGG:hsa00310] [PUBMED:1682209] [PUBMED:11802770]
PKMTs methylate histone lysines [NCBI:1270438] [REACTOME:R-HSA-3214841] [PUBMED:11893494] [PUBMED:19721445]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:19648010] [PUBMED:17604717] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:15863030] [PUBMED:21252999] [PUBMED:19379690] [PUBMED:19536106] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:15450248] [PUBMED:15520807] [PUBMED:16939974] [PUBMED:18483217] [PUBMED:18043707] [PUBMED:19762341] [PUBMED:21781017] [PUBMED:17084981] [PUBMED:19619488] [PUBMED:17496910]
Signaling by Wnt [NCBI:1269594] [REACTOME:R-HSA-195721] [PUBMED:19530173] [PUBMED:22952392] [PUBMED:19204114] [PUBMED:23256519] [PUBMED:19365405] [PUBMED:17143292] [PUBMED:19619488] [PUBMED:17230199] [PUBMED:18710302] [PUBMED:20576942] [PUBMED:16099039] [PUBMED:10858654] [PUBMED:12967557]
TCF dependent signaling in response to WNT [NCBI:1269599] [REACTOME:R-HSA-201681] [PUBMED:19619488] [PUBMED:23256519] [PUBMED:23343194]