Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
121536
Gene name Gene Name - the full gene name approved by the HGNC.
AE binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AEBP2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p12.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019873 hsa-miR-375 Microarray 20215506
MIRT027065 hsa-miR-103a-3p Sequencing 20371350
MIRT027389 hsa-miR-101-3p Sequencing 20371350
MIRT051486 hsa-let-7e-5p CLASH 23622248
MIRT043741 hsa-miR-328-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0003677 Function DNA binding IEA
GO:0003712 Function Transcription coregulator activity IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617934 24051 ENSG00000139154
Protein
UniProt ID Q6ZN18
Protein name Zinc finger protein AEBP2 (Adipocyte enhancer-binding protein 2) (AE-binding protein 2)
Protein function Acts as an accessory subunit for the core Polycomb repressive complex 2 (PRC2), which mediates histone H3K27 (H3K27me3) trimethylation on chromatin leading to transcriptional repression of the affected target gene (PubMed:15225548, PubMed:294991
PDB 5WAI , 5Y0U , 5Y1U , 6C23 , 6C24 , 6WKR , 7KSO , 8EQV , 8FYH , 8T9G , 8TAS , 8TB9 , 8VMI , 8VML , 8VNV , 8VNZ , 9C8U , 9DCH
Family and domains
Sequence
MAAAITDMADLEELSRLSPLPPGSPGSAARGRAEPPEEEEEEEEEEEEAEAEAVAALLLN
GGSGGGGGGGGGGVGGGEAETMSEPSPESASQAGEDEDEEEDDEEEEDESSSSGGGEEES
SAESLVGSSGGSSSDETRSLSPGAASSSSGDGDGKEGLEEPKGPRGSQGGGGGGSSSSSV
VSSGGDEGYGTGGGGSSATSGGRRGSLEMSSDGEPLSRMDSEDSISSTIMDVDSTISSGR
STPAMMNGQGSTTSSSKNIAYNCCWDQCQACFNSSPDLADHIRSIHVDGQRGGVFVCLWK
GCKVYNTPSTSQSWLQRHMLTHSGDKPFKCVVGGCNASFASQGGLARHVPTHFSQQNSSK
VSSQPKAKEESPSKAGMNKRRKLKNKRRRSLPRPHDFFDAQTLDAIRHRAICFNLSAHIE
SLGKGHSVVFHSTVIAKRKEDSGKIKLLLHWMPEDILPDVWVNESERHQLKTKVVHLSKL
PKDTALLLDPNIYRTMPQKRLKRTLIRKVFNLYLSKQ
Sequence length 517
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Polycomb repressive complex   PRC2 methylates histones and DNA
PKMTs methylate histone lysines
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mountain sickness Chronic mountain sickness N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Conversion Disorder Associate 34923368
Precursor T Cell Lymphoblastic Leukemia Lymphoma Associate 27022003