All download files including the archive files are now in a publicly accessible Google Storage Bucket. Downloads page links have been updated.

Not found

Our G-nome assistant hasn't been able to find this symbol report. Please check the URL or use our search to find what you are looking for.

Symbol report for KMT2A

Stable symbol

HGNC data for KMT2A

Approved symbol
KMT2A
Approved name

lysine methyltransferase 2A

Locus type
gene with protein product
HGNC ID
HGNC:7132
Symbol status
Approved
Previous symbols
MLL
Previous names
myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
lysine (K)-specific methyltransferase 2A
Trithorax-like protein
CXXC-type zinc finger protein 7
Acute lymphocytic 1
Alias symbols
TRX1
HRX
ALL-1
HTRX1
CXXC7
MLL1A
MLL1
ALL1
HTRX
Alias names
Histone-lysine N-methyltransferase 2A
Chromosomal location
11q23.3
Alliance of Genome Resources
Bos taurus
KMT2A VGNC:30690 VGNC
Canis familiaris
KMT2A VGNC:42489 VGNC
Equus caballus
KMT2A VGNC:19493 VGNC
Macaca mulatta
KMT2A VGNC:101297 VGNC
Mus musculus
Kmt2a MGI:96995 Curated
Pan troglodytes
KMT2A VGNC:7657 VGNC
Rattus norvegicus
Kmt2a RGD:1586165
Sus scrofa
KMT2A VGNC:108600 VGNC
IUPHAR/BPS Guide to PHARMACOLOGY
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
Strom SP et al. BMC Med Genet 2014 May;1549
Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F.
BMC Med Genet 2014 May;1549
Abstract: <h4>Background</h4>Wiedemann-Steiner Syndrome (WSS) is characterized by short stature, a variety of dysmorphic facial and skeletal features, characteristic hypertrichosis cubiti (excessive hair on the elbows), mild-to-moderate developmental delay and intellectual disability. [MIM#: 605130]. Here we report two unrelated children for whom clinical exome sequencing of parent-proband trios was performed at UCLA, resulting in a molecular diagnosis of WSS and atypical clinical presentation.<h4>Case presentation</h4>For patient 1, clinical features at 9 years of age included developmental delay, craniofacial abnormalities, and multiple minor anomalies. Patient 2 presented at 1 year of age with developmental delay, microphthalmia, partial 3-4 left hand syndactyly, and craniofacial abnormalities. A de novo missense c.4342T>C variant and a de novo splice site c.4086+G>A variant were identified in the KMT2A gene in patients 1 and 2, respectively.<h4>Conclusions</h4>Based on the clinical and molecular findings, both patients appear to have novel presentations of WSS. As the hallmark hypertrichosis cubiti was not initially appreciated in either case, this syndrome was not suspected during the clinical evaluation. This report expands the phenotypic spectrum of the clinical phenotypes and KMT2A variants associated with WSS.
Identification of a gene, MLL, that spans the breakpoint in 11q23 translocations associated with human leukemias.
Ziemin-van der Poel S et al. Proc Natl Acad Sci U S A 1991 Dec;88(23)10735-10739
Ziemin-van der Poel S, McCabe NR, Gill HJ, Espinosa R, Patel Y, Harden A, Rubinelli P, Smith SD, LeBeau MM, Rowley JD.
Proc Natl Acad Sci U S A 1991 Dec;88(23)10735-10739
Abstract: Recurring chromosomal translocations involving chromosome 11, band q23, have been observed in acute lymphoid leukemias and especially in acute myeloid leukemias. We recently showed that breakpoints in four 11q23 translocations, t(4;11)(q21;q23), t(6;11)(q27;q23), t(9;11)(p22;q23), and t(11;19)(q23;p13.3), were contained within a yeast artificial chromosome clone bearing the CD3D and CD3G gene loci. We have identified within the CD3 yeast artificial chromosome a transcription unit that spans the breakpoint junctions of the 4;11, 9;11, and 11;19 translocations, and we describe two other, related transcripts that are upregulated in the RS4;11 cell line. We have named this gene MLL (myeloid/lymphoid, or mixed-lineage, leukemia.