ASXL2 (GeneID: 55252) | Homo sapiens
Description: ASXL transcriptional regulator 2 [Source:HGNC Symbol;Acc:HGNC:23805]
Synonyms: ASXH2, SHAPNS
Other ID(s): HGNC:23805, ENSG00000143970
Protein Accession Numbers: ENST00000404843, NP_060733, ENST00000435504.4, ENST00000336112, NP_001356276, ENST00000435504, ENST00000272341, NP_001356275
Statistics: ClinVar(69) gnomAD(1051) COSMIC(757) PTM(70)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000272341 ENST00000336112 ENST00000404843 ENST00000435504 You are here now! NP_001356275 NP_001356276 NP_060733 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF05066 HARE-HTH HB1, ASXL, restriction endonuclease HTH domain 11-83 CL0123 HTH Homo sapiens
PF13919 ASXH Asx homology domain 256-380 Homo sapiens
PF13922 PHD_3 PHD domain of transcriptional enhancer, Asx 1373-1433 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Malignant neoplasm of urinary bladder Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.72 0.379
Bladder Neoplasm Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.72 0.379
Hydrocephalus Nervous System Diseases ; 0.72 0.379
Leukemia, Myelocytic, Acute Neoplasms ; 0.72 0.379
Acute Myeloid Leukemia, M1 Neoplasms ; 0.72 0.379
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.72 0.379
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.72 0.379
NO RESULT FOUND
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