ASH2L (ASH2 like, histone lysine methyltransferase complex subunit)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9070
Gene name ASH2 like, histone lysine methyltransferase complex subunit
Gene symbol ASH2L
Synonyms (NCBI Gene)
ASH2ASH2L1ASH2L2Bre2
Chromosome 8
Chromosome location 8p11.23
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1060499744 A>G Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
221
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (221)
miRTarBase ID miRNA Experiments Reference
MIRT001383 hsa-miR-1-3p pSILAC 18668040
MIRT001383 hsa-miR-1-3p Proteomics;Other 18668040
MIRT038629 hsa-miR-125b-2-3p CLASH 23622248
MIRT036952 hsa-miR-877-3p CLASH 23622248
MIRT628737 hsa-miR-1253 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (29)
GO ID Ontology Definition Evidence Reference
GO:0000976 Function Transcription cis-regulatory region binding IBA
GO:0000976 Function Transcription cis-regulatory region binding IDA 16603732
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 12482968, 12670868, 14992727, 16189514, 16603732, 16892064, 17178841, 17500065, 17925232, 17998332, 19047629, 19131338, 19187761, 19433796, 19556245, 20085832, 21220120, 21516116, 22722839, 23414517, 23870121, 23995757, 24981860, 25416956, 25456412, 26886794, 31485071, 31515488, 322
GO:0005634 Component Nucleus IDA 15199122, 17500065, 18245475
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604782 744 ENSG00000129691
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBL3
Protein name Set1/Ash2 histone methyltransferase complex subunit ASH2 (ASH2-like protein)
Protein function Transcriptional regulator (PubMed:12670868). Component or associated component of some histone methyltransferase complexes which regulates transcription through recruitment of those complexes to gene promoters (PubMed:19131338). Component of the
PDB 3RSN , 3S32 , 3TOJ , 4RIQ , 4X8N , 4X8P , 5F6K , 5F6L , 6E2H , 6KIU , 6KIV , 6KIW , 6KIX , 6KIZ , 6PWV , 6W5I , 6W5M , 6W5N , 7BRE , 7MBM , 7MBN , 7UD5 , 7W67 , 7W6A , 7W6I , 7W6J , 7W6L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00622 SPRY 420 → 498 SPRY domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Predominantly expressed in adult heart and testis and fetal lung and liver, with barely detectable expression in adult lung, liver, kidney, prostate, and peripheral leukocytes. {ECO:0000269|PubMed:10393421}.
Sequence 
MAAAGAGPGQEAGAGPGPGAVANATGAEEGEMKPVAAGAAAPPGEGISAAPTVEPSSGEA
EGGEANLVDVSGGLETESSNGKDTLEGAGDTSEVMDTQAGSVDEENGRQLGEVELQCGIC
TKWFTADTFGIDTSSCLPFMTNYSFHCNVCHHSGNTYFLRKQANLKEMCLSALANLTWQS
RTQDEHPKTMFSKDKDIIPFIDKYWECMTTRQRPGKMTWPNNIVKTMSKERDVFLVKEHP
DPGSKDPEEDYPKFGLLDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKR
KQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILAEPDPHAPDPEKLEL
DCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGA
WYFEITVDEMPPDTAARLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGY
GQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFVDKAEKSLKQTPHSE
IIFYKNGVNQGVAYKDIFEGVYFPAISLYKSCTVSINFGPCFKYPPKDLTYRPMSDMGWG
AVVEHTLADVLYHVETEVDGRRSPPWEP
Sequence length 628
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cushing syndrome   Formation of the beta-catenin:TCF transactivating complex
PKMTs methylate histone lysines
Deactivation of the beta-catenin transactivating complex
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Global developmental delay Likely pathogenic rs1060499744 RCV000454265
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic rs1060499744 RCV000454265
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
VENOUS THROMBOEMBOLISM — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 28185526
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31718694
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25258321
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22433456 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 19896696
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Heart Defects Congenital heart defects BEFREE 22194017
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 37974198 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 25996283 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay CLINVAR_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hematologic Neoplasms Hematologic Neoplasms BEFREE 31251903
★★★★★
★☆☆☆☆
Found in Text Mining only