ASH2L ASH2 like, histone lysine methyltransferase complex subunit [Homo sapiens (human)] - Gene

Summary

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Official Symbol: ASH2Lprovided by HGNC
Official Full Name: ASH2 like, histone lysine methyltransferase complex subunitprovided by HGNC
Primary source: HGNC:HGNC:744
See related: Ensembl:ENSG00000129691 MIM:604782; AllianceGenome:HGNC:744
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ASH2; Bre2; ASH2L1; ASH2L2
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]
Expression: Ubiquitous expression in testis (RPKM 20.9), fat (RPKM 13.3) and 25 other tissues See more
Orthologs: mouse all
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Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (38105493..38140080)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (38382461..38417070)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (37963011..37997598)

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ASH2L, a COMPASS core subunit, is involved in the cell invasion and migration of triple-negative breast cancer cells through the epigenetic control of histone H3 lysine 4 methylation.
Title: ASH2L, a COMPASS core subunit, is involved in the cell invasion and migration of triple-negative breast cancer cells through the epigenetic control of histone H3 lysine 4 methylation.
CircASH2L facilitates tumor-like biologic behaviours and inflammation of fibroblast-like synoviocytes via miR-129-5p/HIPK2 axis in rheumatoid arthritis.
Title: CircASH2L facilitates tumor-like biologic behaviours and inflammation of fibroblast-like synoviocytes via miR-129-5p/HIPK2 axis in rheumatoid arthritis.
Mechanism for DPY30 and ASH2L intrinsically disordered regions to modulate the MLL/SET1 activity on chromatin.
Title: Mechanism for DPY30 and ASH2L intrinsically disordered regions to modulate the MLL/SET1 activity on chromatin.
ASH2L drives proliferation and sensitivity to bleomycin and other genotoxins in Hodgkin's lymphoma and testicular cancer cells.
Title: ASH2L drives proliferation and sensitivity to bleomycin and other genotoxins in Hodgkin's lymphoma and testicular cancer cells.
Cancer-derived UTX TPR mutations G137V and D336G impair interaction with MLL3/4 complexes and affect UTX subcellular localization.
Title: Cancer-derived UTX TPR mutations G137V and D336G impair interaction with MLL3/4 complexes and affect UTX subcellular localization.
Our findings suggest that ASH2L participates in the promotion of endometrial cancer progression, if not totally at least partially, via upregulation of PAX2 transcription.
Title: ASH2L is involved in promotion of endometrial cancer progression via upregulation of PAX2 transcription.
Circ-ASH2L served as a miRNA sponge for miR-34a and promoted tumor progression in vivo. Finally, we analyzed circ-ASH2L expression in clinical tissues and found that high circ-ASH2L expression was correlated with lymphatic invasion and TNM stage and was an independent risk factor for pancreatic patient survival.
Title: Circ-ASH2L promotes tumor progression by sponging miR-34a to regulate Notch1 in pancreatic ductal adenocarcinoma.
unliganded glucocorticoid receptor and ASH2L may act as key regulatory players of BCL- XL upregulation in acute myeloid leukemia cells.
Title: Glucocorticoids uncover a critical role for ASH2L on BCL-X expression regulation in leukemia cells.
berrant histone methylation of IFN-gamma associating H3K4me3 and H3K27me3 caused by over-binding of Ash2L and Jmjd3 might be involved in immune dysfunction and vascular damage in Kawasaki disease in the acute phase.
Title: [Role of ash2 (absent, small, or homeotic)-like and Jumonji domain-containing protein 3 on histone methylation of interferon-gamma gene and their associations with vascular damage of Kawasaki disease].
our results suggest that ASH2L contributes to leukemogenesis by cooperating with other proteins that aberrantly upregulate cellular growth and proliferation pathways.
Title: Low expression of ASH2L protein correlates with a favorable outcome in acute myeloid leukemia.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of early menopause and the combined impact of identified variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NIB1979 (e-PCR)
- UniSTS:34831

RH104296 (e-PCR)
- UniSTS:98621

ASH2L (e-PCR)
- UniSTS:506235

RH35988 (e-PCR)
- UniSTS:12424

D6S1405 (e-PCR)
- UniSTS:3477

SHGC-58272 (e-PCR)
- UniSTS:36550

ASH2L_3207 (e-PCR)
- UniSTS:462041

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in hemopoiesis	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription initiation-coupled chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of MLL1 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of MLL1/2 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of MLL3/4 complex	IDA Inferred from Direct Assay more info	PubMed
part_of MLL3/4 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of Set1C/COMPASS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Set1C/COMPASS complex	IDA Inferred from Direct Assay more info	PubMed
part_of Set1C/COMPASS complex	IPI Inferred from Physical Interaction more info	PubMed
part_of euchromatin	IEA Inferred from Electronic Annotation more info
part_of histone methyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: set1/Ash2 histone methyltransferase complex subunit ASH2

Names: ASH2-like protein; ash2 (absent, small, or homeotic)-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001105214.2 → NP_001098684.1 set1/Ash2 histone methyltransferase complex subunit ASH2 isoform b

See identical proteins and their annotated locations for NP_001098684.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AC084024, BC015936, DA156139

Consensus CDS

CCDS47840.1

UniProtKB/TrEMBL

B4DPT1

Related

ENSP00000395310.2, ENST00000428278.6

Conserved Domains (2) summary

cd15583
Location:7 → 56

PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins

cd12872
Location:298 → 489

SPRY_Ash2; SPRY domain in Ash2
NM_001261832.1 → NP_001248761.1 set1/Ash2 histone methyltransferase complex subunit ASH2 isoform c

See identical proteins and their annotated locations for NP_001248761.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, initiates translation at a downstream, in-frame start codon and lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AC084024, AF056717, DA156139

Consensus CDS

CCDS59100.1

UniProtKB/TrEMBL

B4DPT1

Related

ENSP00000430259.1, ENST00000521652.5

Conserved Domains (2) summary

cd15583
Location:7 → 56

PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins

cd12872
Location:298 → 400

SPRY_Ash2; SPRY domain in Ash2
NM_001282272.1 → NP_001269201.1 set1/Ash2 histone methyltransferase complex subunit ASH2 isoform d

See identical proteins and their annotated locations for NP_001269201.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AC084024, AK298483, DC353644

Consensus CDS

CCDS64872.1

UniProtKB/TrEMBL

B4DPT1, F5H8F7

Related

ENSP00000443606.1, ENST00000545394.2

Conserved Domains (1) summary

cd12872
Location:253 → 444

SPRY_Ash2; SPRY domain in Ash2
NM_004674.5 → NP_004665.2 set1/Ash2 histone methyltransferase complex subunit ASH2 isoform a

See identical proteins and their annotated locations for NP_004665.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AB020982, AC084024, DC353644

Consensus CDS

CCDS6101.1

UniProtKB/Swiss-Prot

A8K7C3, D3DSW9, O60659, O60660, Q96B62, Q9UBL3

UniProtKB/TrEMBL

A8K6T5

Related

ENSP00000340896.5, ENST00000343823.11

Conserved Domains (2) summary

cd15583
Location:101 → 150

PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins

cd12872
Location:392 → 583

SPRY_Ash2; SPRY domain in Ash2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

38105493..38140080

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005273682.2 → XP_005273739.1 set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X1

UniProtKB/TrEMBL

A8K6T5

Conserved Domains (2) summary

cd15583
Location:101 → 150

PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins

cd12872
Location:398 → 589

SPRY_Ash2; SPRY domain in Ash2
XM_006716412.2 → XP_006716475.1 set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X2

UniProtKB/TrEMBL

A8K6T5

Conserved Domains (2) summary

cd15583
Location:101 → 150

PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins

cd12872
Location:398 → 500

SPRY_Ash2; SPRY domain in Ash2
XM_006716413.4 → XP_006716476.1 set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X3

UniProtKB/TrEMBL

A8K6T5

Conserved Domains (2) summary

cd15583
Location:101 → 150

PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins

cd12872
Location:392 → 494

SPRY_Ash2; SPRY domain in Ash2
XM_005273683.2 → XP_005273740.1 set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X4

See identical proteins and their annotated locations for XP_005273740.1

UniProtKB/TrEMBL

B4DPT1

Conserved Domains (2) summary

cd15583
Location:7 → 56

PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins

cd12872
Location:304 → 495

SPRY_Ash2; SPRY domain in Ash2

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

38382461..38417070

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361469.1 → XP_054217444.1 set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X1
XM_054361470.1 → XP_054217445.1 set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X2
XM_054361471.1 → XP_054217446.1 set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X3
XM_054361472.1 → XP_054217447.1 set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X4