Seroatlas · Human Serome Atlas

ASH2L

Set1/Ash2 histone methyltransferase complex subunit ASH2

Also known as: ASH2, ASH2L_HUMAN, ASH2L1, ASH2L2, Bre2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UBL3
Gene
ASH2L
Ensembl
ENSG00000129691
Chromosome
8
Canonical length
628 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm,Plasma membrane

OverviewNCBI Gene

Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Involved in positive regulation of cell population proliferation; response to estrogen; and transcription initiation-coupled chromatin remodeling. Acts upstream of or within DNA damage response. Located in nucleus. Part of MLL1 complex; MLL3/4 complex; and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

628 residues, UniProt reviewed canonical sequence.

>Q9UBL3|ASH2L
     1  MAAAGAGPGQ EAGAGPGPGA VANATGAEEG EMKPVAAGAA APPGEGISAA PTVEPSSGEA
    61  EGGEANLVDV SGGLETESSN GKDTLEGAGD TSEVMDTQAG SVDEENGRQL GEVELQCGIC
   121  TKWFTADTFG IDTSSCLPFM TNYSFHCNVC HHSGNTYFLR KQANLKEMCL SALANLTWQS
   181  RTQDEHPKTM FSKDKDIIPF IDKYWECMTT RQRPGKMTWP NNIVKTMSKE RDVFLVKEHP
   241  DPGSKDPEED YPKFGLLDQD LSNIGPAYDN QKQSSAVSTS GNLNGGIAAG SSGKGRGAKR
   301  KQQDGGTTGT TKKARSDPLF SAQRLPPHGY PLEHPFNKDG YRYILAEPDP HAPDPEKLEL
   361  DCWAGKPIPG DLYRACLYER VLLALHDRAP QLKISDDRLT VVGEKGYSMV RASHGVRKGA
   421  WYFEITVDEM PPDTAARLGW SQPLGNLQAP LGYDKFSYSW RSKKGTKFHQ SIGKHYSSGY
   481  GQGDVLGFYI NLPEDTETAK SLPDTYKDKA LIKFKSYLYF EEKDFVDKAE KSLKQTPHSE
   541  IIFYKNGVNQ GVAYKDIFEG VYFPAISLYK SCTVSINFGP CFKYPPKDLT YRPMSDMGWG
   601  AVVEHTLADV LYHVETEVDG RRSPPWEP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASH2L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
39 nTPM

Expression across tissuesHPA

Tissue

  • testis: 39 nTPM
  • thymus: 31 nTPM
  • skeletal muscle: 30 nTPM
  • bone marrow: 30 nTPM
  • ovary: 28 nTPM
  • adipose tissue: 27 nTPM

Single-cell type

  • sertoli cells: 143 nCPM
  • erythrocyte progenitors: 114 nCPM
  • neutrophil progenitors: 105 nCPM
  • late primary spermatocytes: 99 nCPM
  • megakaryocytes: 87 nCPM
  • megakaryocyte-erythroid progenitors: 85 nCPM

Immune cell

  • eosinophil: 57 nTPM
  • basophil: 40 nTPM
  • myeloid DC: 28 nTPM
  • intermediate monocyte: 27 nTPM
  • NK-cell: 27 nTPM
  • non-classical monocyte: 26 nTPM

Brain region

  • basal ganglia: 32 nTPM
  • cerebral cortex: 31 nTPM
  • cerebellum: 30 nTPM
  • hypothalamus: 30 nTPM
  • white matter: 28 nTPM
  • thalamus: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASH2L.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 86 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.21
gnomAD pLI
1
gnomAD missense Z
2.78
DepMap mean gene effect
-0.26
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ASH2L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ASH2L as an antibody target. Whether an autoantibody or antibody against ASH2L could matter depends on whether native ASH2L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASH2L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ASH2L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ASH2L. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...