Gene: KMT2D ENSG00000167548

Description

lysine (K)-specific methyltransferase 2D [Source:HGNC Symbol;Acc:7133]

Gene Synonyms

AAD10, ALR, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21

Location

Chromosome 12: 49,412,758-49,453,557 reverse strand.

GRCh37:CM000674.1

About this gene

This gene has 7 transcripts (splice variants), 7 paralogues and is associated with 136 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000301067.7	KMT2D-001	19419	5537aa	ENSP00000301067.7	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS44873	F8VWW4 O14686 Q59FG6 Q6PIA1	NM_003482.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000526209.1	KMT2D-002	859	218aa	ENSP00000435714.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YEF2	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000547610.1	KMT2D-007	636	145aa	ENSP00000449455.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8VWW4	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000549743.1	KMT2D-005	615	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000549799.1	KMT2D-006	530	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000552391.1	KMT2D-004	860	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000550356.1	KMT2D-003	445	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

EMBL-EBI User Survey 2024

Gene: KMT2D ENSG00000167548

Summary

EMBL-EBI User Survey 2024

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Gene: KMT2D ENSG00000167548

Summary