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  2. ASH2L - ASH2 like, histone lysine methyltransferase complex subunit Gene

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables beta-catenin binding IPI
IPI: Inferred from physical interaction
22723415 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12482968 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
16603732 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within DNA damage response IDA
IDA: Inferred from direct assay
17500065 GOA
involved in positive regulation of cell population proliferation IMP
IMP: Inferred from mutant phenotype
18245475 GOA
involved in response to estrogen IDA
IDA: Inferred from direct assay
16603732 GOA
involved in transcription initiation-coupled chromatin remodeling IDA
IDA: Inferred from direct assay
19556245 GOA
Cellular Component GO Annotation Evidence Reference Source
part of MLL1 complex IPI
IPI: Inferred from physical interaction
23508102 GOA
part of MLL1/2 complex IPI
IPI: Inferred from physical interaction
23508102 GOA
part of MLL3/4 complex IDA
IDA: Inferred from direct assay
17500065 GOA
part of MLL3/4 complex IPI
IPI: Inferred from physical interaction
23508102 GOA
part of Set1C/COMPASS complex IDA
IDA: Inferred from direct assay
17998332 GOA
part of Set1C/COMPASS complex IPI
IPI: Inferred from physical interaction
23508102 GOA
part of histone methyltransferase complex IDA
IDA: Inferred from direct assay
17355966 GOA
located in nucleus IDA
IDA: Inferred from direct assay
15199122 GOA
located in nucleus IMP
IMP: Inferred from mutant phenotype
22723415 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ASH2L Protein Structure

SPRY

SPRY: SPRY domain (419 - 495)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 628 a.a.
Protein Preferred Names Protein Names

set1/Ash2 histone methyltransferase complex subunit ASH2

ASH2-like protein

ASH2L Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ASH2L Q9UBL3 FKBP1A Homo sapiens Q0VDC6
Validated Y2H
32814053
Intra
ASH2L Q9UBL3 FKBP1A Homo sapiens Q0VDC6
Y2H Array
32814053
Intra
ASH2L Q9UBL3 FKBP1A Homo sapiens Q0VDC6
Y2H Pooling
32814053
Intra
ASH2L Q9UBL3 ERN1 Homo sapiens O75460-2
Y2H Array
32814053
Intra
ASH2L Q9UBL3 ERN1 Homo sapiens O75460-2
Y2H Pooling
32814053
Intra
ASH2L Q9UBL3 ERN1 Homo sapiens O75460-2
Validated Y2H
32814053
Intra
ASH2L Q9UBL3 TP53 Homo sapiens P04637
Anti Tag CoIP
33961781
Intra
ASH2L Q9UBL3 TP53 Homo sapiens P04637
Anti Bait CoIP
23870121
Intra
ASH2L Q9UBL3 CCNC Homo sapiens P24863
Y2H Array
32296183
Intra
ASH2L Q9UBL3 CCNC Homo sapiens P24863
Y2H Prey Pooling
32296183
Intra
ASH2L Q9UBL3 HCFC1 Homo sapiens P51610
Anti Tag CoIP
33961781
Intra
ASH2L Q9UBL3 HCFC1 Homo sapiens P51610
Anti Bait CoIP
23870121
Intra
ASH2L Q9UBL3 HCFC1 Homo sapiens P51610
Density Sedimentation
12670868
Intra
ASH2L Q9UBL3 HCFC1 Homo sapiens P51610
TAP
24981860
Intra
ASH2L Q9UBL3 EP300 Homo sapiens Q09472
Anti Tag CoIP
23870121
Intra
ASH2L Q9UBL3 EP300 Homo sapiens Q09472
Pull Down
23870121
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Anti Bait CoIP
17925232
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Pull Down
17500065
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Anti Bait CoIP
12482968
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
TAP
24981860
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
GMS
17500065
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
GMS
19131338
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
GMS
16892064
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Anti Bait CoIP
23870121
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Anti Bait CoIP
16603732
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Y2H
21516116
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Anti Bait CoIP
19131338
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Anti Bait CoIP
17500065
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Y2H Array
32296183
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
GMS
17178841
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Y2H Prey Pooling
25416956
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Y2H Fragment Pooling
23414517
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Solution Sedimentation
19556245
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
Y2H Prey Pooling
32296183
Intra
ASH2L Q9UBL3 RBBP5 Homo sapiens Q15291
GMS
12482968
Intra
ASH2L Q9UBL3 MESD Homo sapiens Q14696
Y2H Prey Pooling
32296183
Intra
ASH2L Q9UBL3 MESD Homo sapiens Q14696
Y2H Array
32296183
Intra
ASH2L Q9UBL3 CEP76 Homo sapiens Q8TAP6
Y2H Array
32296183
Intra
ASH2L Q9UBL3 PAXIP1 Homo sapiens Q6ZW49
GMS
17178841
Intra
ASH2L Q9UBL3 PAXIP1 Homo sapiens Q6ZW49
TAP
24981860
Intra
ASH2L Q9UBL3 PAXIP1 Homo sapiens Q6ZW49
Anti Bait CoIP
17500065
Intra
ASH2L Q9UBL3 PAXIP1 Homo sapiens Q6ZW49
Anti Bait CoIP
17925232
Intra
ASH2L Q9UBL3 PAXIP1 Homo sapiens Q6ZW49
Anti Tag CoIP
33961781
Intra
ASH2L Q9UBL3 DPY30 Homo sapiens Q9C005
Y2H Prey Pooling
32296183
Intra
ASH2L Q9UBL3 DPY30 Homo sapiens Q9C005
TAP
24981860
Intra
ASH2L Q9UBL3 DPY30 Homo sapiens Q9C005
Y2H Pooling
16189514
Intra
ASH2L Q9UBL3 DPY30 Homo sapiens Q9C005
Validated Y2H
25416956
Intra
ASH2L Q9UBL3 DPY30 Homo sapiens Q9C005
Anti Tag CoIP
33961781
Intra
ASH2L Q9UBL3 DPY30 Homo sapiens Q9C005
Solution Sedimentation
19556245
Intra
ASH2L Q9UBL3 DPY30 Homo sapiens Q9C005
Y2H Array
32296183
Intra
ASH2L Q9UBL3 DPY30 Homo sapiens Q9C005
Pull Down
17500065
Intra
ASH2L Q9UBL3 NCOA6 Homo sapiens Q14686
Anti Tag CoIP
33961781
Intra
ASH2L Q9UBL3 NCOA6 Homo sapiens Q14686
Anti Bait CoIP
17500065
Intra
ASH2L Q9UBL3 NCOA6 Homo sapiens Q14686
GMS
17178841
Intra
ASH2L Q9UBL3 NCOA6 Homo sapiens Q14686
GMS
12482968
Intra
ASH2L Q9UBL3 NCOA6 Homo sapiens Q14686
TAP
24981860
Intra
ASH2L Q9UBL3 NCOA6 Homo sapiens Q14686
Anti Bait CoIP
17925232
Intra
ASH2L Q9UBL3 NCOA6 Homo sapiens Q14686
Anti Bait CoIP
12482968
Cross: Cross-species interaction Intra: Intraspecies interaction

ASH2L Antibodies

Cat. No. Product Name Application Reactivity
HY-P81978 ASH2L Antibody (YA1723) WB, ICC/IF, IP Human, Rat

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

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
Others ASH2L NCBI