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
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000301067.7 | KMT2D-001 | 19419 | 5537aa | ENSP00000301067.7 | Protein coding | CCDS44873 | F8VWW4 O14686 Q59FG6 Q6PIA1 | NM_003482.3 | GENCODE basic, |
ENST00000526209.1 | KMT2D-002 | 859 | 218aa | ENSP00000435714.1 | Protein coding | H0YEF2 | - | CDS 5' incomplete, | |
ENST00000547610.1 | KMT2D-007 | 636 | 145aa | ENSP00000449455.1 | Protein coding | F8VWW4 | - | CDS 3' incomplete, | |
ENST00000549743.1 | KMT2D-005 | 615 | No protein | - | Processed transcript | - | - | - | |
ENST00000549799.1 | KMT2D-006 | 530 | No protein | - | Processed transcript | - | - | - | |
ENST00000552391.1 | KMT2D-004 | 860 | No protein | - | Retained intron | - | - | - | |
ENST00000550356.1 | KMT2D-003 | 445 | No protein | - | Retained intron | - | - | - |