Itgav MGI Mouse Gene Detail - MGI:96608

Symbol

Itgav
Name

integrin alpha V
Synonyms

1110004F14Rik, 2610028E01Rik, alphav-integrin, CD51, D430040G12Rik, vitronectin receptor alpha polypeptide (VNRA)

Feature Type

protein coding gene
IDs

MGI:96608
NCBI Gene: 16410
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr2:83554741-83637260 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 49.33 cM
Mapping Data

3 experiments

SNPs within 2kb

426 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96608	protein coding gene	Chr2:83551625-83637261 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025892	protein coding gene	Chr2:84379091-84468010 (+)
A/J	MGP_AJ_G0025869	protein coding gene	Chr2:81146286-81241614 (+)
AKR/J	MGP_AKRJ_G0025838	protein coding gene	Chr2:83235281-83324250 (+)
BALB/cJ	MGP_BALBcJ_G0025865	protein coding gene	Chr2:81275838-81361798 (+)
C3H/HeJ	MGP_C3HHeJ_G0025624	protein coding gene	Chr2:83512711-83601099 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026311	protein coding gene	Chr2:86954376-87043825 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023714	protein coding gene	Chr2:78061390-78144396 (+)
CAST/EiJ	MGP_CASTEiJ_G0025086	protein coding gene	Chr2:83975378-84063480 (+)
CBA/J	MGP_CBAJ_G0025605	protein coding gene	Chr2:90133691-90228262 (+)
DBA/2J	MGP_DBA2J_G0025736	protein coding gene	Chr2:80727880-80813333 (+)
FVB/NJ	MGP_FVBNJ_G0025698	protein coding gene	Chr2:79946768-80035084 (+)
LP/J	MGP_LPJ_G0025824	protein coding gene	Chr2:84219798-84319072 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025729	protein coding gene	Chr2:92359931-92451690 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026367	protein coding gene	Chr2:83445663-83535464 (+)
PWK/PhJ	MGP_PWKPhJ_G0024829	protein coding gene	Chr2:80512500-80597793 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024634	protein coding gene	Chr2:83581278-83668883 (+)
WSB/EiJ	MGP_WSBEiJ_G0025155	protein coding gene	Chr2:84102161-84191261 (+)

Human Ortholog

ITGAV, integrin subunit alpha V

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ITGAV, integrin subunit alpha V
Synonyms

CD51, MSK8, VNRA, VTNR
Links

HGNC:6150

NCBI Gene ID: 3685

neXtProt AC: NX_P06756

UniProt: P06756
Chr Location

2q32.1; chr2:186590063-186680902 (+) GRCh38.p7

Alliance of Genome Resources

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

vertebrate homology predictions: ITGAV
Gene Tree

Itgav

Diseases

2 with human ITGAV associations

				Human Disease	Mouse Models
				abdominal aortic aneurysm IDs abdominal aortic aneurysm DOID:7693 EFO:0004214 MESH:D017544 NCI:C27000 OMIM:100070 OMIM:609782 OMIM:611891 OMIM:614375 UMLS_CUI:C0162871
				acute myeloid leukemia IDs acute myeloid leukemia DOID:9119 DOID:9118 DOID:9171 ICD10CM:C92.0 ICD9CM:205.0 KEGG:05221 MESH:D015470 NCI:C3171 OMIM:601626 UMLS_CUI:C0023467

Click on a disease name to see all genes associated with that disease.

less

Phenotype Summary

75 phenotypes from 3 alleles in 8 genetic backgrounds
11 phenotypes from multigenic genotypes
50 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

20
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

3
Targeted

10
Genomic Mutations

3 involving Itgav
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

39 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit placental defects, intracerebral and intestinal hemorrhages, and cleft palate, resulting in death occurring as early as midgestation and as late as shortly after birth.

less

All GO Annotations

102
GO References

26

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

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

909
Tissues

60
cDNA Data

158
Literature Summary

37

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase itgav

ZFIN itgav

less

Itgav interacts with 369 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

less

All Sequences

67
RefSeq

4
UniProt

8
CCDS

CCDS16181.1

Ensembl

ENSMUSG00000027087 (Evidence)
NCBI Gene

16410

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027087	Ensembl Gene Model \| MGI Sequence Detail	82520	C57BL/6J	± kb
transcript	ENSMUST00000028499	Ensembl \| MGI Sequence Detail	7054	Not Applicable
polypeptide	ENSMUSP00000028499	Ensembl \| MGI Sequence Detail	1044	Not Applicable

less

UniProt

8 Sequences
Protein Ontology

PR:000009135 integrin alpha-V

(term hierarchy)
InterPro Domains

IPR013517 FG-GAP repeat

IPR013649 Integrin alpha-2

IPR013519 Integrin alpha beta-propellor

IPR000413 Integrin alpha chain

IPR018184 Integrin alpha chain, C-terminal cytoplasmic region, conserved site

IPR028994 Integrin alpha, N-terminal

IPR032695 Integrin domain superfamily

less

All nucleic 165

cDNA 160

Primer pair 3

Other 2

Microarray probesets 9

less

MGD-MRK-11487, MGI:1923548, MGI:1923608, MGI:2445000

Summaries

All 210

Developmental Gene Expression 37

Gene Ontology 26

Phenotypes 50
Earliest

J:10951 Moulder K, et al., The mouse vitronectin receptor is a T cell activation antigen. J Exp Med. 1991 Feb 1;173(2):343-7
Latest

J:326151 Ayloo S, et al., Pericyte-to-endothelial cell signaling via vitronectin-integrin regulates blood-CNS barrier. Neuron. 2022 May 18;110(10):1641-1655.e6

TSS for Itgav:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr18648	Chr2:83554420-83554450 (+)	-306 bp
Tssr18649	Chr2:83554502-83554513 (+)	-233 bp
Tssr18650	Chr2:83554756-83554763 (+)	19 bp
Tssr18651	Chr2:83554773-83554859 (+)	75 bp
Tssr550	Chr2:83554868-83554872 (+)	129 bp
Tssr18652	Chr2:83592077-83592091 (+)	37,343 bp
Tssr18653	Chr2:83592927-83592931 (+)	38,188 bp
Tssr18654	Chr2:83595840-83595843 (+)	41,101 bp
Tssr18655	Chr2:83602053-83602057 (+)	47,314 bp
Tssr18656	Chr2:83605687-83605717 (+)	50,961 bp
Tssr18657	Chr2:83635482-83635513 (+)	80,757 bp
Tssr18658	Chr2:83636926-83636945 (+)	82,195 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)
Citing These Resources Funding Information Warranty Disclaimer, Copyright, and Privacy Statement Send questions and comments to User Support.	last database update 03/14/2023 MGI 6.22