• Gene id: 9070

Gene Summary

• Gene Symbol: ASH2L   Gene   UCSC   Ensembl
• Aliases: ASH2, ASH2L1, ASH2L2, Bre2
• Gene name: ASH2 like, histone lysine methyltransferase complex subunit
• Alternate names: set1/Ash2 histone methyltransferase complex subunit ASH2, ASH2-like protein, ash2 (absent, small, or homeotic)-like,
• Gene location: 8p11.23 (38104964: 38140079)     Exons: 18     NC_000008.11
• OMIM: 604782

Protein Summary

• Protein general information: Q9UBL3  
  • Name: Set1/Ash2 histone methyltransferase complex subunit ASH2 (ASH2 like protein)
  • Length: 628  
  • Mass: 68723
  • 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
• Sequence:

  MAAAGAGPGQEAGAGPGPGAVANATGAEEGEMKPVAAGAAAPPGEGISAAPTVEPSSGEAEGGEANLVDVSGGLE
  TESSNGKDTLEGAGDTSEVMDTQAGSVDEENGRQLGEVELQCGICTKWFTADTFGIDTSSCLPFMTNYSFHCNVC
  HHSGNTYFLRKQANLKEMCLSALANLTWQSRTQDEHPKTMFSKDKDIIPFIDKYWECMTTRQRPGKMTWPNNIVK
  TMSKERDVFLVKEHPDPGSKDPEEDYPKFGLLDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKR
  KQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILAEPDPHAPDPEKLELDCWAGKPIPGDLYRA
  CLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAARLGWSQPLGNLQAP
  LGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDF
  VDKAEKSLKQTPHSEIIFYKNGVNQGVAYKDIFEGVYFPAISLYKSCTVSINFGPCFKYPPKDLTYRPMSDMGWG
  AVVEHTLADVLYHVETEVDGRRSPPWEP

• Structural information:
  • Protein Domains: (360..58-)
    (/note="B30.2/SPRY-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00548"-)
  • Interpro: IPR037353  IPR001870  IPR013320  IPR003877  
  • Prosite: PS50188
  • PDB: 3RSN 3S32 3TOJ 4RIQ 4X8N 4X8P 5F6K 5F6L 6E2H 6KIU 6KIV 6KIW 6KIX 6KIZ 6PWV
  • PDBsum: 3RSN 3S32 3TOJ 4RIQ 4X8N 4X8P 5F6K 5F6L 6E2H 6KIU 6KIV 6KIW 6KIX 6KIZ 6PWV
  • DIP: 29222
  • STRING: ENSP00000340896
• Other Databases: GeneCards:  ASH2L  Malacards:  ASH2L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051568	histone H3-K4 methylation	IBA	biological process
GO:0048188	Set1C/COMPASS complex	IBA	cellular component
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IBA	contributes to
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0044666	MLL3/4 complex	IDA	cellular component
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0051568	histone H3-K4 methylation	IDA	biological process
GO:0048188	Set1C/COMPASS complex	IDA	cellular component
GO:0048188	Set1C/COMPASS complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048188	Set1C/COMPASS complex	IEA	cellular component
GO:0051568	histone H3-K4 methylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0035097	histone methyltransferase complex	IPI	cellular component
GO:0035097	histone methyltransferase complex	IPI	cellular component
GO:0035097	histone methyltransferase complex	IPI	cellular component
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0045652	regulation of megakaryocyte differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005719	nuclear euchromatin	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0071339	MLL1 complex	IEA	cellular component
GO:1990188	euchromatin binding	IEA	molecular function
GO:0008013	beta-catenin binding	IDA	molecular function
GO:0005634	nucleus	IMP	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043627	response to estrogen	IDA	biological process
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IDA	contributes to
GO:0051568	histone H3-K4 methylation	IDA	biological process
GO:0030097	hemopoiesis	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008284	positive regulation of cell population proliferation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881