Aven MGI Mouse Gene Detail - MGI:1921518 - apoptosis, caspase activation inhibitor

Symbol

Aven
Name

apoptosis, caspase activation inhibitor
Synonyms

1700013A01Rik, 1700056A21Rik, mAven-L, mAven-S

Feature Type

protein coding gene
IDs

MGI:1921518
NCBI Gene: 74268
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr2:112323231-112461598 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 57.04 cM, cytoband E4
Mapping Data

2 experiments

SNPs within 2kb

6283 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921518	protein coding gene	Chr2:112323231-112464918 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026293	protein coding gene	Chr2:114945964-115086881 (+)
A/J	MGP_AJ_G0026254	protein coding gene	Chr2:110234887-110375298 (+)
AKR/J	MGP_AKRJ_G0026233	protein coding gene	Chr2:113342873-113480136 (+)
BALB/cJ	MGP_BALBcJ_G0026267	protein coding gene	Chr2:110499530-110633681 (+)
C3H/HeJ	MGP_C3HHeJ_G0026012	protein coding gene	Chr2:113720563-113891954 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026714	protein coding gene	Chr2:118750924-118900445 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024094	protein coding gene	Chr2:105470876-105609253 (+)
CAST/EiJ	MGP_CASTEiJ_G0025475	protein coding gene	Chr2:113992991-114139142 (+)
CBA/J	MGP_CBAJ_G0025989	protein coding gene	Chr2:122896423-123057862 (+)
DBA/2J	MGP_DBA2J_G0026128	protein coding gene	Chr2:109695521-109834494 (+)
FVB/NJ	MGP_FVBNJ_G0026090	protein coding gene	Chr2:108579848-108713451 (+)
LP/J	MGP_LPJ_G0026229	protein coding gene	Chr2:115239409-115381714 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026109	protein coding gene	Chr2:127296699-127437984 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026769	protein coding gene	Chr2:113401480-113541075 (+)
PWK/PhJ	MGP_PWKPhJ_G0025211	protein coding gene	Chr2:109200164-109338395 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025010	protein coding gene	Chr2:112581000-112719121 (+)
WSB/EiJ	MGP_WSBEiJ_G0025544	protein coding gene	Chr2:114204328-114356332 (+)

Human Ortholog

AVEN, apoptosis and caspase activation inhibitor

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AVEN, apoptosis and caspase activation inhibitor
Synonyms

PDCD12
Links

HGNC:13509

NCBI Gene ID: 57099

UniProt: Q9NQS1
Chr Location

15q14; chr15:33851781-34075325 (-) GRCh38

MGI Vertebrate Homology

Aven stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AVEN
Gene Tree

Aven

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Phenotype Summary

2 phenotypes from 2 alleles in 2 genetic backgrounds
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

49
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

41
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Aven
Incidental Mutations

APF
Find Mice (IMSR)

39 strains or lines available

Mice homozygous for a reporter allele exhibit increased cell death in response to various apoptotic stimuli.

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All GO Annotations

10
GO References

6

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

776
Tissues

17
cDNA Data

16
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase aven

ZFIN aven

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All Sequences

53
RefSeq

10
UniProt

4
CCDS

CCDS16557.1, CCDS50660.1

Ensembl

ENSMUSG00000003604 (Evidence)
NCBI Gene

74268

			Length	Strain/Species	Flank
genomic	74268	NCBI Gene Model \| MGI Sequence Detail	138368	C57BL/6J	± kb
transcript	NM_028844	RefSeq \| MGI Sequence Detail	1442	C57BL/6
polypeptide	Q9D9K3	UniProt \| EBI \| MGI Sequence Detail	342	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000004520 cell death regulator Aven

(term hierarchy)
InterPro Domains

IPR026187 Cell death regulator Aven
GlyGen

Q9D9K3 1 site

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All nucleic 22

cDNA 16

Primer pair 6

Microarray probesets 4

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MGI:1916615

Summaries

All 40

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 13
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Aven:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19383	Chr2:112323239-112323250 (+)	14 bp
Tssr19384	Chr2:112323271-112323350 (+)	80 bp
Tssr19385	Chr2:112328513-112328516 (+)	5,284 bp
Tssr19386	Chr2:112337323-112337329 (+)	14,095 bp
Tssr19387	Chr2:112337446-112337457 (+)	14,221 bp
Tssr19388	Chr2:112337459-112337481 (+)	14,239 bp
Tssr19389	Chr2:112337531-112337543 (+)	14,306 bp
Tssr19390	Chr2:112401786-112401807 (+)	78,566 bp
Tssr597	Chr2:112417758-112417760 (+)	94,528 bp
Tssr19394	Chr2:112449339-112449346 (+)	126,112 bp
Tssr19395	Chr2:112449357-112449367 (+)	126,131 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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