AVEN apoptosis and caspase activation inhibitor [Homo sapiens (human)] - Gene

Summary

Official Symbol: AVENprovided by HGNC
Official Full Name: apoptosis and caspase activation inhibitorprovided by HGNC
Primary source: HGNC:HGNC:13509
See related: Ensembl:ENSG00000169857 MIM:605265; AllianceGenome:HGNC:13509
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PDCD12
Summary: Involved in negative regulation of apoptotic process. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 1.9), placenta (RPKM 1.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q14

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (33851781..34075325, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (31663872..31837383, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (34158428..34331405, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of apoptotic repressor AVEN exacerbates cardiac injury after myocardial infarction.
Title: Downregulation of apoptotic repressor AVEN exacerbates cardiac injury after myocardial infarction.
MicroRNA-30a contributes to pre-eclampsia through regulating the proliferation, apoptosis, and angiogenesis modulation potential of mesenchymal stem cells by targeting AVEN.
Title: MicroRNA-30a contributes to pre-eclampsia through regulating the proliferation, apoptosis, and angiogenesis modulation potential of mesenchymal stem cells by targeting AVEN.
MiR-30b-5p expression was found to be significantly upregulated in hypoxic cardiomyocytes, AC16 cells. The in vitro experiments showed that downregulation of miR-30b-5p effectively alleviated hypoxia-induced cardiomyocyte injury. Aven is a potential target gene of miR-30b-5p and its downregulation could partially reverse the influence of miR-30b-5p knockdown on AC16 cells under hypoxia.
Title: Down-regulation of miR-30b-5p protects cardiomyocytes against hypoxia-induced injury by targeting Aven.
Expression of granulosa cell microRNAs, AVEN and ATRX are associated with human blastocyst development.
Title: Expression of granulosa cell microRNAs, AVEN and ATRX are associated with human blastocyst development.
AVEN and BIRC6 are inhibited by combination therapy of miR-30e and proanthocyanidin in glioblastoma stem cells
Title: miR-30e Blocks Autophagy and Acts Synergistically with Proanthocyanidin for Inhibition of AVEN and BIRC6 to Increase Apoptosis in Glioblastoma Stem Cells and Glioblastoma SNB19 Cells.
The Aven RGG/RG motif bound G4 structures within the coding regions of the MLL1 and MLL4 mRNAs increasing their polysomal association and translation, resulting in the induction of transcription of leukemic genes.
Title: Aven recognition of RNA G-quadruplexes regulates translation of the mixed lineage leukemia protooncogenes.
the expression of Aven is regulated by the Akt signaling pathway through cathepsin D activity, which contributes to the sensitivity of cancer cells to chemotherapeutic agents.
Title: Akt regulation of Aven contributes to the sensitivity of cancer cells to chemotherapeutic agents.
The findings implicate Aven in ATR-Chk1 signalling and point towards Chk1 inhibition as a strategy to sensitize human osteosarcomas to chemotherapy.
Title: Aven-mediated checkpoint kinase control regulates proliferation and resistance to chemotherapy in conventional osteosarcoma.
Overexpression of the anti-apoptotic protein AVEN contributes to increased malignancy in hematopoietic neoplasms.
Title: Overexpression of the anti-apoptotic protein AVEN contributes to increased malignancy in hematopoietic neoplasms.
a model of Aven activation by which its N-terminal inhibitory domain is removed by CathD-mediated proteolysis, thereby unleashing its cytoprotective function.
Title: The Apaf-1-binding protein Aven is cleaved by Cathepsin D to unleash its anti-apoptotic potential.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66717 (e-PCR)
- UniSTS:35884

SHGC-145553 (e-PCR)
- UniSTS:174646

D15S1263 (e-PCR)
- UniSTS:14435

RH94176 (e-PCR)
- UniSTS:88939

RH48204 (e-PCR)
- UniSTS:80511

RH120343 (e-PCR)
- UniSTS:132483

WI-15231 (e-PCR)
- UniSTS:40643

RH102644 (e-PCR)
- UniSTS:96978

D15S1355 (e-PCR)
- UniSTS:51671

RH123264 (e-PCR)
- UniSTS:135641

RH98244 (e-PCR)
- UniSTS:89589

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of G2/M transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cell death regulator Aven

Names: apoptosis, caspase activation inhibitor; programmed cell death 12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.