Gene Gene information from NCBI Gene database.
Entrez ID 121536
Gene name AE binding protein 2
Gene symbol AEBP2
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12p12.3
miRNA miRNA information provided by mirtarbase database.
583
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617934 24051 ENSG00000139154
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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
CHRONIC MOUNTAIN SICKNESS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TRICUSPID VALVE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Chronic mountain sickness Mountain sickness GWASCAT_DG 31417607
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute Leukemia BEFREE 27022003
★☆☆☆☆
Found in Text Mining only