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

Chr2:83554796-83637261 bp, + strand
From NCBI 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

1649 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	Chr2:83554741-83637261 (+)
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

UniProt: P06756
Chr Location

2q32.1; chr2:186590010-186680901 (+) GRCh38

MGI Vertebrate Homology

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.

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Phenotype Summary

75 phenotypes from 3 alleles in 8 genetic backgrounds
11 phenotypes from multigenic genotypes
56 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

21
Chemically induced (other)

1
Endonuclease-mediated

7
Gene trapped

3
Targeted

10
Genomic Mutations

3 involving Itgav
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

51 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.

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All GO Annotations

68
GO References

10

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	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

935
Tissues

76
cDNA Data

158
Literature Summary

43

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

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All Sequences

67
RefSeq

4
UniProt

8
CCDS

CCDS16181.1

Ensembl

ENSMUSG00000027087 (Evidence)
NCBI Gene

16410

			Length	Strain/Species	Flank
genomic	16410	NCBI Gene Model \| MGI Sequence Detail	82466	C57BL/6J	± kb
transcript	NM_008402	RefSeq \| MGI Sequence Detail	7000	ZRU/MplStud
polypeptide	P43406	UniProt \| EBI \| MGI Sequence Detail	1044	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000009135 integrin alpha-V

(term hierarchy)
InterPro Domains

IPR013517 FG-GAP repeat

IPR013519 Integrin alpha beta-propellor

IPR000413 Integrin alpha chain

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

IPR013649 Integrin alpha, first immunoglubulin-like domain

IPR028994 Integrin alpha, N-terminal

IPR048285 Integrin alpha, second immunoglobulin-like domain

IPR048286 Integrin alpha, third immunoglobulin-like domain

IPR032695 Integrin domain superfamily
GlyGen

P43406 14 sites, 20 N-linked glycans (9 sites), 1 O-linked glycan (1 site)

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All nucleic 167

cDNA 160

Primer pair 5

Other 2

Microarray probesets 9

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

Summaries

All 224

Developmental Gene Expression 43

Gene Ontology 10

Phenotypes 56
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:362502 Lv Y, et al., IFITM2 Modulates Endocytosis Maintaining Neural Stem Cells in Developing Neocortex. Adv Sci (Weinh). 2025 Mar 7;:e2501593

TSS for Itgav:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr18648	Chr2:83554420-83554450 (+)	-361 bp
Tssr18649	Chr2:83554502-83554513 (+)	-288 bp
Tssr18650	Chr2:83554756-83554763 (+)	-36 bp
Tssr18651	Chr2:83554773-83554859 (+)	20 bp
Tssr550	Chr2:83554868-83554872 (+)	74 bp
Tssr18652	Chr2:83592077-83592091 (+)	37,288 bp
Tssr18653	Chr2:83592927-83592931 (+)	38,133 bp
Tssr18654	Chr2:83595840-83595843 (+)	41,046 bp
Tssr18655	Chr2:83602053-83602057 (+)	47,259 bp
Tssr18656	Chr2:83605687-83605717 (+)	50,906 bp
Tssr18657	Chr2:83635482-83635513 (+)	80,702 bp
Tssr18658	Chr2:83636926-83636945 (+)	82,140 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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