Lysine-Specific Methyltransferase 2D

Alternative Names

KMT2D
Myeloid/Lymphoid or Mixed Lineage Leukemia 2
MLL2
Myeloid/Lymphoid or Mixed Lineage Leukemia 4
MLL4
ALL1-Related Gene
ALR

Length

41,910 bases

No. of Exons

No. of isoforms

Protein Name

Histone-lysine N-methyltransferase 2D

Molecular Mass

593389 Da

Amino Acid Count

5537

Genomic Location

chr12:49,018,974-49,060,883

Gene Map Locus

12q13.12

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_003482.3:c.10570C>T	United Arab Emirates	NC_000012.12:g.49034237G>A	Pathogenic	Likely Pathogenic	Kabuki Syndrome 1	NG_027827.1:g.26088C>T; NM_003482.3:c.10570C>T; NP_003473.3:p.Gln3524Ter	1565780936	579500
NM_003482.3:c.10658G>T	Palestine	NC_000012.12:g.49034149C>A		Pathogenic	Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, and Hypothyroidism Syndrome	NG_027827.1:g.26176G>T; NM_003482.3:c.10658G>T; NP_003473.3:p.Gly3553Val
NM_003482.3:c.11679del	United Arab Emirates	NC_000012.12:g.49033028del	Pathogenic	Pathogenic	Kabuki Syndrome 1	NG_027827.1:g.27299del; NM_003482.3:c.11679del; NP_003473.3:p.Met3894TrpfsTer85	1943027165	981754
NM_003482.3:c.12406C>T	United Arab Emirates	NC_000012.12:g.49032299G>A	Pathogenic	Likely Pathogenic	Kabuki Syndrome 1	NG_027827.1:g.28026C>T; NM_003482.3:c.12406C>T; NP_003473.3:p.Gln4136Ter	398123711	94156
NM_003482.3:c.16294C>T	United Arab Emirates	NC_000012.12:g.49022634G>A	Pathogenic	Pathogenic	Kabuki Syndrome 1	NG_027827.1:g.37691C>T; NM_003482.3:c.16294C>T; NP_003473.3:p.Arg5432Trp	1565753611	633524
NM_003482.4:c.1622_1635del	United Arab Emirates	NC_000012.12:g.49052052_49052065del		Likely Pathogenic	Kabuki Syndrome 1	NG_027827.1:g.8264_8277del; NM_003482.4:c.1622_1635del; NP_003473.3:p.Glu541ValfsTer5
NM_003482.4:c.8311C>T	Saudi Arabia	NC_000012.12:g.49039277G>A	Pathogenic	Likely Pathogenic	Kabuki Syndrome 1	NG_027827.1:g.21048C>T; NM_003482.4:c.8311C>T; NP_003473.3:p.Arg2771Ter	1251778848	503723

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External Links

https://medlineplus.gov/genetics/gene/kmt2d/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=kmt2d

Contributors

Pratibha Nair: 28.09.2023
Pratibha Nair: 12.09.2021
Pratibha Nair: 11.04.2021

Edit History

Pratibha Nair: 28.09.2023
Pratibha Nair: 14.09.2021
Pratibha Nair: 12.09.2021
Pratibha Nair: 11.04.2021

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