Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57099
Gene name	Apoptosis and caspase activation inhibitor
Gene symbol	AVEN
Synonyms (NCBI Gene)	PDCD12
Chromosome	15
Chromosome location	15q14

Show/Hide all (89)

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
MIRT812226	hsa-miR-141	CLIP-seq
MIRT812227	hsa-miR-15a	CLIP-seq
MIRT812228	hsa-miR-15b	CLIP-seq
MIRT812229	hsa-miR-16	CLIP-seq
MIRT812230	hsa-miR-195	CLIP-seq
MIRT812231	hsa-miR-200a	CLIP-seq
MIRT812232	hsa-miR-214	CLIP-seq
MIRT812233	hsa-miR-30a	CLIP-seq
MIRT812234	hsa-miR-30b	CLIP-seq
MIRT812235	hsa-miR-30c	CLIP-seq
MIRT812236	hsa-miR-30d	CLIP-seq
MIRT812237	hsa-miR-30e	CLIP-seq
MIRT812238	hsa-miR-3607-3p	CLIP-seq
MIRT812239	hsa-miR-3619-5p	CLIP-seq
MIRT812240	hsa-miR-424	CLIP-seq
MIRT812241	hsa-miR-4291	CLIP-seq
MIRT812242	hsa-miR-4686	CLIP-seq
MIRT812243	hsa-miR-4718	CLIP-seq
MIRT812244	hsa-miR-4728-3p	CLIP-seq
MIRT812245	hsa-miR-4753-3p	CLIP-seq
MIRT812246	hsa-miR-4781-3p	CLIP-seq
MIRT812247	hsa-miR-4794	CLIP-seq
MIRT812248	hsa-miR-497	CLIP-seq
MIRT812249	hsa-miR-761	CLIP-seq
MIRT812250	hsa-miR-892b	CLIP-seq
MIRT812251	hsa-miR-922	CLIP-seq
MIRT1545646	hsa-miR-338-3p	CLIP-seq
MIRT1545647	hsa-miR-4310	CLIP-seq
MIRT1545648	hsa-miR-634	CLIP-seq
MIRT812233	hsa-miR-30a	CLIP-seq
MIRT812234	hsa-miR-30b	CLIP-seq
MIRT812235	hsa-miR-30c	CLIP-seq
MIRT812236	hsa-miR-30d	CLIP-seq
MIRT812237	hsa-miR-30e	CLIP-seq
MIRT2179135	hsa-let-7a	CLIP-seq
MIRT2179136	hsa-let-7b	CLIP-seq
MIRT2179137	hsa-let-7c	CLIP-seq
MIRT2179138	hsa-let-7d	CLIP-seq
MIRT2179139	hsa-let-7e	CLIP-seq
MIRT2179140	hsa-let-7f	CLIP-seq
MIRT2179141	hsa-let-7g	CLIP-seq
MIRT2179142	hsa-let-7i	CLIP-seq
MIRT2179143	hsa-miR-1245b-3p	CLIP-seq
MIRT812226	hsa-miR-141	CLIP-seq
MIRT812231	hsa-miR-200a	CLIP-seq
MIRT2179144	hsa-miR-2276	CLIP-seq
MIRT812233	hsa-miR-30a	CLIP-seq
MIRT812234	hsa-miR-30b	CLIP-seq
MIRT812235	hsa-miR-30c	CLIP-seq
MIRT812236	hsa-miR-30d	CLIP-seq
MIRT812237	hsa-miR-30e	CLIP-seq
MIRT2179145	hsa-miR-3173-3p	CLIP-seq
MIRT2179146	hsa-miR-3613-5p	CLIP-seq
MIRT2179147	hsa-miR-3942-3p	CLIP-seq
MIRT2179148	hsa-miR-3975	CLIP-seq
MIRT2179149	hsa-miR-4257	CLIP-seq
MIRT2179150	hsa-miR-4458	CLIP-seq
MIRT2179151	hsa-miR-4476	CLIP-seq
MIRT2179152	hsa-miR-4500	CLIP-seq
MIRT2179153	hsa-miR-4533	CLIP-seq
MIRT2179154	hsa-miR-4695-5p	CLIP-seq
MIRT2179155	hsa-miR-4699-3p	CLIP-seq
MIRT2179156	hsa-miR-4708-3p	CLIP-seq
MIRT812246	hsa-miR-4781-3p	CLIP-seq
MIRT812247	hsa-miR-4794	CLIP-seq
MIRT2179157	hsa-miR-630	CLIP-seq
MIRT812250	hsa-miR-892b	CLIP-seq
MIRT2179158	hsa-miR-98	CLIP-seq
MIRT2482582	hsa-miR-1252	CLIP-seq
MIRT2482583	hsa-miR-3064-5p	CLIP-seq
MIRT2482584	hsa-miR-3140-5p	CLIP-seq
MIRT2482585	hsa-miR-3652	CLIP-seq
MIRT2482586	hsa-miR-4430	CLIP-seq
MIRT2482587	hsa-miR-4505	CLIP-seq
MIRT2482588	hsa-miR-548g	CLIP-seq
MIRT812250	hsa-miR-892b	CLIP-seq
MIRT2482582	hsa-miR-1252	CLIP-seq
MIRT2482583	hsa-miR-3064-5p	CLIP-seq
MIRT2482584	hsa-miR-3140-5p	CLIP-seq
MIRT2482585	hsa-miR-3652	CLIP-seq
MIRT2482586	hsa-miR-4430	CLIP-seq
MIRT2482587	hsa-miR-4505	CLIP-seq
MIRT2482588	hsa-miR-548g	CLIP-seq
MIRT812250	hsa-miR-892b	CLIP-seq

Show/Hide all (8)

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
GO:0016020	Component	Membrane	IDA	10949025
GO:0016020	Component	Membrane	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	10949025

MIM	HGNC	e!Ensembl
605265	13509	ENSG00000169857

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

	Reactome
			Formation of apoptosome Regulation of the apoptosome activity

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)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ARTHROGRYPOSIS MULTIPLEX CONGENITA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	22751129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	22751129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	22751129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27388765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27388765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27388765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	22751129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31768184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26267306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12853345	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22751129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	18303113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22751129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	15496427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	22751129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASDB_DG	23740937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	32887540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

AVEN (apoptosis and caspase activation inhibitor)