Aven apoptosis, caspase activation inhibitor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Avenprovided by MGI
Official Full Name: apoptosis, caspase activation inhibitorprovided by MGI
Primary source: MGI:MGI:1921518
See related: Ensembl:ENSMUSG00000003604 AllianceGenome:MGI:1921518
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mAven-L; mAven-S; 1700013A01Rik; 1700056A21Rik
Summary: Predicted to be involved in negative regulation of G2/M transition of mitotic cell cycle and negative regulation of apoptotic process. Predicted to be located in membrane. Is expressed in several structures, including heart; liver; metanephros; spleen; and testis. Orthologous to human AVEN (apoptosis and caspase activation inhibitor). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis adult (RPKM 40.7), liver E14 (RPKM 4.4) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E3; 2 57.04 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (112323231..112461598)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (112492883..112631253)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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.
activated in irradiated tissues protected from radiodamage by treatment with recombinant superoxide dismutase (MnSOD)
Title: A recombinant MnSOD is radioprotective for normal cells and radiosensitizing for tumor cells.
One of the cDNA clones obtained by selective PCR subtraction cloning matched two cDNA sequences in the mouse testis cDNA database, and was highly homologous to Aven, a human gene regulating cell death.
Title: Expression of the mouse Aven gene during spermatogenesis, analyzed by subtraction screening using Mvh-knockout mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Aven (e-PCR), detects polymorphism
- UniSTS:516202

Aven (e-PCR), detects polymorphism
- UniSTS:516203

Aven (e-PCR), detects polymorphism
- UniSTS:516204

Aven (e-PCR), detects polymorphism
- UniSTS:516206

Aven (e-PCR), detects polymorphism
- UniSTS:516207

Aven (e-PCR), detects polymorphism
- UniSTS:516208

D38218 (e-PCR)
- UniSTS:124829

NoName (e-PCR)
- UniSTS:485294

D38218 (e-PCR)
- UniSTS:163294

AI851294 (e-PCR)
- UniSTS:178674

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: cell death regulator Aven

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.

mRNA and Protein(s)

NM_001165935.1 → NP_001159407.1 cell death regulator Aven isoform 2

See identical proteins and their annotated locations for NP_001159407.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

BE651622, BE995326, DV646415

Consensus CDS

CCDS50660.1

UniProtKB/TrEMBL

A2AGL5

Related

ENSMUSP00000097184.4, ENSMUST00000099588.4
NM_001355630.1 → NP_001342559.1 cell death regulator Aven isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AL691423
NM_001355631.1 → NP_001342560.1 cell death regulator Aven isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AK005934, AL691423
NM_028844.4 → NP_083120.2 cell death regulator Aven isoform 1

See identical proteins and their annotated locations for NP_083120.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL691423, AL731840

Consensus CDS

CCDS16557.1

UniProtKB/Swiss-Prot

A2AGL4, Q9D9K3

UniProtKB/TrEMBL

Q496R6

Related

ENSMUSP00000003705.6, ENSMUST00000003705.12

RNA

NR_149741.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) has an alternate 5' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL691423