Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57099
Gene name Gene Name - the full gene name approved by the HGNC.
Apoptosis and caspase activation inhibitor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AVEN
Synonyms (NCBI Gene) Gene synonyms aliases
PDCD12
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q14
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT007276 hsa-miR-30a-5p Luciferase reporter assay 23445407
MIRT022196 hsa-miR-124-3p Microarray 18668037
MIRT027461 hsa-miR-98-5p Microarray 19088304
MIRT812224 hsa-miR-103a CLIP-seq
MIRT812225 hsa-miR-107 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10949025
GO:0005829 Component Cytosol TAS
GO:0006915 Process Apoptotic process IEA
GO:0010972 Process Negative regulation of G2/M transition of mitotic cell cycle IBA
GO:0012505 Component Endomembrane system IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605265 13509 ENSG00000169857
Protein
UniProt ID Q9NQS1
Protein name Cell death regulator Aven
Protein function Protects against apoptosis mediated by Apaf-1.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis, ovary, thymus, prostate, spleen, small intestine, colon, heart, skeletal muscle, liver, kidney and pancreas.
Sequence
MQAERGARGGRGRRPGRGRPGGDRHSERPGAAAAVARGGGGGGGGDGGGRRGRGRGRGFR
GARGGRGGGGAPRGSRREPGGWGAGASAPVEDDSDAETYGEENDEQGNYSKRKIVSNWDR
YQDIEKEVNNESGESQRGTDFSVLLSSAGDSFSQFRFAEEKEWDSEASCPKQNSAFYVDS
ELLVRALQELPLCLRLNVAAELVQGTVPLEVPQVKPKRTDDGKGLGMQLKGPLGPGGRGP
IFELKSVAAGCPVLLGKDNPSPGPSRDSQKPTSPLQSAGDHLEEELDLLLNLDAPIKEGD
NILPDQTSQDLKSKEDGEVVQEEEVCAKPSVTEEKNMEPEQPSTSKNVTEEELEDWLDSM
IS
Sequence length 362
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of apoptosome
Regulation of the apoptosome activity
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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
Heart Failure Chronic heart failure N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cerebral Palsy Ataxic Autosomal Recessive Associate 19096130
Glioblastoma Associate 27388765
Hypoxia Associate 31768184
Leukemia Associate 26267306
Leukemia Myeloid Acute Associate 12853345
Neoplasms Associate 18303113
Pre Eclampsia Associate 35322749
Thyroid Carcinoma Anaplastic Associate 32887540