• Gene id: 55252

Gene Summary

• Gene Symbol: ASXL2   Gene   UCSC   Ensembl
• Aliases: ASXH2, SHAPNS
• Gene name: ASXL transcriptional regulator 2
• Alternate names: putative Polycomb group protein ASXL2, additional sex combs like 2, transcriptional regulator, additional sex combs-like protein 2, polycomb group protein ASXH2,
• Gene location: 2p23.3 (25878486: 25733752)     Exons: 16     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with
• OMIM: 612991

Protein Summary

• Protein general information: Q76L83  
  • Name: Putative Polycomb group protein ASXL2 (Additional sex combs like protein 2)
  • Length: 1435  
  • Mass: 153820
• Sequence:

  MREKGRRKKGRTWAEAAKTVLEKYPNTPMSHKEILQVIQREGLKEIRSGTSPLACLNAMLHTNSRGEEGIFYKVP
  GRMGVYTLKKDVPDGVKELSEGSEESSDGQSDSQSSENSSSSSDGGSNKEGKKSRWKRKVSSSSPQSGCPSPTIP
  AGKVISPSQKHSKKALKQALKQQQQKKQQQQCRPSISISSNQHLSLKTVKAASDSVPAKPATWEGKQSDGQTGSP
  QNSNSSFSSSVKVENTLLGLGKKSFQRSERLHTRQMKRTKCADIDVETPDSILVNTNLRALINKHTFSVLPGDCQ
  QRLLLLLPEVDRQVGPDGLMKLNGSALNNEFFTSAAQGWKERLSEGEFTPEMQVRIRQEIEKEKKVEPWKEQFFE
  SYYGQSSGLSLEDSKKLTASPSDPKVKKTPAEQPKSMPVSEASLIRIVPVVSQSECKEEALQMSSPGRKEECESQ
  GEVQPNFSTSSEPLLSSALNTHELSSILPIKCPKDEDLLEQKPVTSAEQESEKNHLTTASNYNKSESQESLVTSP
  SKPKSPGVEKPIVKPTAGAGPQETNMKEPLATLVDQSPESLKRKSSLTQEEAPVSWEKRPRVTENRQHQQPFQVS
  PQPFLNRGDRIQVRKVPPLKIPVSRISPMPFHPSQVSPRARFPVSITSPNRTGARTLADIKAKAQLVKAQRAAAA
  AAAAAAAAASVGGTIPGPGPGGGQGPGEGGEGQTARGGSPGSDRVSETGKGPTLELAGTGSRGGTRELLPCGPET
  QPQSETKTTPSQAQPHSVSGAQLQQTPPVPPTPAVSGACTSVPSPAHIEKLDNEKLNPTRATATVASVSHPQGPS
  SCRQEKAPSPTGPALISGASPVHCAADGTVELKAGPSKNIPNPSASSKTDASVPVAVTPSPLTSLLTTATLEKLP
  VPQVSATTAPAGSAPPSSTLPAASSLKTPGTSLNMNGPTLRPTSSIPANNPLVTQLLQGKDVPMEQILPKPLTKV
  EMKTVPLTAKEERGMGALIATNTTENSTREEVNERQSHPATQQQLGKTLQSKQLPQVPRPLQLFSAKELRDSSID
  THQYHEGLSKATQDQILQTLIQRVRRQNLLSVVPPSQFNFAHSGFQLEDISTSQRFMLGFAGRRTSKPAMAGHYL
  LNISTYGRGSESFRRTHSVNPEDRFCLSSPTEALKMGYTDCKNATGESSSSKEDDTDEESTGDEQESVTVKEEPQ
  VSQSAGKGDTSSGPHSRETLSTSDCLASKNVKAEIPLNEQTTLSKENYLFTRGQTFDEKTLARDLIQAAQKQMAH
  AVRGKAIRSSPELFSSTVLPLPADSPTHQPLLLPPLQTPKLYGSPTQIGPSYRGMINVSTSSDMDHNSAVPGSQV
  SSNVGDVMSFSVTVTTIPASQAMNPSSHGQTIPVQAFSEENSIEGTPSKCYCRLKAMIMCKGCGAFCHDDCIGPS
  KLCVSCLVVR

• Structural information:
  • Protein Domains: (11..8-)
    (/note="HTH-HARE-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01261"-)
  • Interpro: IPR026905  IPR024811  IPR028020  IPR024817  IPR007759  
  • Prosite: PS51913
  • STRING: ENSP00000383920
• Other Databases: GeneCards:  ASXL2  Malacards:  ASXL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003682	chromatin binding	IBA	molecular function
GO:0009887	animal organ morphogenesis	IBA	biological process
GO:0042975	peroxisome proliferator activated receptor binding	IBA	molecular function
GO:0000790	nuclear chromatin	IBA	colocalizes with
GO:0035517	PR-DUB complex	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045600	positive regulation of fat cell differentiation	IDA	biological process
GO:0042975	peroxisome proliferator activated receptor binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0035360	positive regulation of peroxisome proliferator activated receptor signaling pathway	IDA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0010884	positive regulation of lipid storage	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq