ASH2L - ASH2 like, histone lysine methyltransferase complex subunit Gene

Homo sapiens

Also known as ASH2; Bre2; ASH2L1; ASH2L2

Gene ID: 9070 | Gene type: protein coding

About ASH2L

Cytogenetic location: 8p11.23 Genomic coordinates (GRCh38): 8:38,105,493-38,140,080 (from NCBI)

This gene has 12 transcripts (splice variants) and 212 orthologues. Ubiquitous expression in testis (RPKM 20.9), fat (RPKM 13.3) and 25 other tissues.

Summary

Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Contributes to Histone Methyltransferase activity (H3-K4 specific). Involved in histone H3-K4 methylation; positive regulation of cell population proliferation; and response to estrogen. Acts upstream of or within cellular response to DNA damage stimulus. Located in nucleus. Part of MLL3/4 complex and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Apr 2022]

ASH2L Products(4)

mRNA	Protein	Name
NM_001105214.2	NP_001098684.1	set1/Ash2 histone methyltransferase complex subunit ASH2 isoform b
NM_001261832.1	NP_001248761.1	set1/Ash2 histone methyltransferase complex subunit ASH2 isoform c
NM_001282272.1	NP_001269201.1	set1/Ash2 histone methyltransferase complex subunit ASH2 isoform d
NM_004674.5	NP_004665.2	set1/Ash2 histone methyltransferase complex subunit ASH2 isoform a

ASH2L Protein Structure

SPRY

0
100
200
300
400
500
628 a.a.

Protein Preferred Names

Protein Names

set1/Ash2 histone methyltransferase complex subunit ASH2

ASH2-like protein

Related Diseases

Diseases

Alias

Kabuki Syndrome 1

Kabuki Syndrome	Niikawa-Kuroki Syndrome
Kabuki Make-Up Syndrome	Kms
KABUK1	Kabuki Make Up Syndrome
Nks	Kabuki Makeup Syndrome
Kabuki Syndrome, Type 1

Kleefstra Syndrome

9q34.3 Microdeletion Syndrome	9q Subtelomeric Deletion Syndrome
9q- Syndrome	Chromosome 9q Deletion Syndrome
9q34.3 Deletion Syndrome	9qstds
Chromosome 9q34.3 Deletion Syndrome	Chromosome 9, Trisomy 9q

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01088	ASH2L Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ASH2L	VGNC	VGNC:70032
Felis catus	ASH2L	VGNC	VGNC:68340
Bos taurus	ASH2L	VGNC	VGNC:49156
Mus musculus	ASH2L	MGD	MGI:1344416
Rattus norvegicus	ASH2L	RGD	RGD:1305632
Canis familiaris	ASH2L	VGNC	VGNC:50623

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