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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ITGB8 Gene

protein-coding GIFtS: 60
GCID: GC07P020370

integrin, beta 8

Explore 14 diseases affiliated with
ITGB8 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Integrin, Beta 8¹ ²
Integrin Beta-8²

External Ids:	HGNC: 6163¹	Entrez Gene: 3696²	Ensembl: ENSG00000105855⁷	OMIM: 604160⁵	UniProtKB: P26012³

Export aliases for ITGB8 gene to outside databases

Previous GC identifers: GC07P020015 GC07P020115 GC07P020143 GC07P020337

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ITGB8:

This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA

domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric

integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this

complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different

protein isoforms have been described; however, not all variants have been fully characterized. (provided by RefSeq,

Jul 2008)

UniProtKB/Swiss-Prot: ITB8_HUMAN, P26012

Function: Integrin alpha-V/beta-8 is a receptor for fibronectin

Gene Wiki entry for ITGB8

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007819.17 NT_079592.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ITGB8 gene promoter:
TBP RelA POU6F1 (c2) NF-kappaB HEN1 PPAR-gamma1 TFIID FOXO4 PPAR-gamma2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ITGB8 promoter sequence

Search SABiosciences Chromatin IP Primers for ITGB8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITGB8

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p21.1 Ensembl cytogenetic band: 7p21.1 HGNC cytogenetic band: 7p15.3

ITGB8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGB8 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P020370: view genomic region (about GC identifiers)

Start:	20,370,325 bp from pter	End:	20,455,382 bp from pter
Size:	85,058 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 20,422,044-20,506,723

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ITB8_HUMAN, P26012 (See protein sequence)

Recommended Name: Integrin beta-8 precursor

Size: 769 amino acids; 85632 Da

Subunit: Heterodimer of an alpha and a beta subunit. Beta-8 associates with alpha-V

Subcellular location: Membrane; Single-pass type I membrane protein

Secondary accessions: A4D133

Explore the universe of human proteins at neXtProt for ITGB8: NX_P26012

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P26012

ITGB8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002205.1

ENSEMBL proteins:

ENSP00000222573 ENSP00000441561

Reactome Protein details: P26012
Human Recombinant Protein Products:

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	Novus Biologicals ITGB8 Protein Novus Biologicals ITGB8 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0008305	integrin complex	IEA	--

ITGB8 for ontologies About GeneDecksing

ITGB8 Antibody Products:

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	Novus Biologicals ITGB8 Antibodies
	Search for Antibodies for ITGB8 at Abcam
	Browse Antibodies at Uscn
	Search ThermoFisher Antibodies for ITGB8

Assay Products for ITGB8:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for ITGB8
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ITGB8 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR003659 Plexin-like

IPR002369 Integrin_bsu_N

IPR000742 EG-like_dom

IPR016201 Plexin-like_fold

IPR013032 EGF-like_CS

Graphical View of Domain Structure for InterPro Entry P26012

ProtoNet protein and cluster: P26012

2 Blocks protein families:

IPB001169 Integrin beta

IPB002035 Von Willebrand factor type A domain signature

UniProtKB/Swiss-Prot: ITB8_HUMAN, P26012

Similarity: Belongs to the integrin beta chain family

Similarity: Contains 1 VWFA domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ITB8_HUMAN, P26012

Function: Integrin alpha-V/beta-8 is a receptor for fibronectin

Genatlas biochemistry entry for ITGB8:

integrin,beta 8,cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other

cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells

miRNA Products:		miRTarBase miRNAs that target ITGB8: hsa-mir-93 (MIRT004104)

		OriGene 3'-UTR Clone: ITGB8 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITGB8
		8/158 QIAGEN miScript miRNA Assays for microRNAs that regulate ITGB8 (see all 158):
		hsa-miR-376b hsa-miR-106a hsa-miR-199a-3p hsa-miR-134 hsa-miR-342-3p hsa-miR-642b hsa-miR-130b hsa-miR-761

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITGB8 (see all 7) OriGene shRNA RFP: ITGB8 OriGene siRNA: ITGB8
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITGB8

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ITGB8

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITGB8 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITGB8 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ITGB8 (NM_002214)
		Sino Biological Human cDNA Clone for ITGB8
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGB8
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGB8

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ITGB8
		Search LifeMap BioReagents cell lines for ITGB8

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB8

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	IEA	--
GO:0005102	receptor binding	IEA	--

ITGB8 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Itgb8^tm1Lfr for ITGB8
     11 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Itgb8):

cardiovascular system	cellular	craniofacial	digestive/alimentary	embryogenesis
growth/size	homeostasis/metabolism	mortality/aging	nervous system	normal
other

ITGB8 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/23 super-pathways (see all 23) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Apoptotic Pathways in Synovial Fibroblasts

PPAR Pathway	0.66	Actin-Based Motility by Rho Family GTPases	0.52
Rac1 Pathway	0.58	Rap1 Pathway	0.42
Glioma Invasiveness	0.54

Actin Nucleation by ARP-WASP Complex

	Actin Nucleation by ARP-WASP Complex	1.00			RhoA Pathway	0.35
	Actin Nucleation and Branching	0.66			CDC42 Pathway	0.34

Focal Adhesion

	Focal Adhesion	1.00			Integrin-mediated cell adhesion	0.38
	Focal adhesion	0.66			HGF Pathway	0.24

Pathway sources
See GeneCards unified pathways
Show all pathways

5/34 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ITGB8 (see all 34)

	RhoA Pathway
	Paxillin Interactions
	Molecular Mechanisms of Cancer
	CDK5 Pathway
	Tec Kinases Signaling

3 BioSystems Pathways for ITGB8

	Integrin-mediated cell adhesion
	Focal Adhesion
	Arrhythmogenic right ventricular cardiomyopathy

5 Reactome Pathways for ITGB8

	Molecules associated with elastic fibres
	Extracellular matrix organization
	Integrin cell surface interactions
	Elastic fibre formation
	Signal Transduction

5/7 Kegg Pathways (Kegg details for ITGB8) (see all 7):

	Focal adhesion
	ECM-receptor interaction
	Cell adhesion molecules (CAMs)
	Regulation of actin cytoskeleton
	Hypertrophic cardiomyopathy (HCM)

ITGB8 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ITGB8

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/102 Interacting proteins for ITGB8 (P26012³ ENSP00000222573⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 102)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ITGAV	P06756³, ENSP00000261023⁴	I2D: score=3 STRING: ENSP00000261023
TGFB1	P01137³, ENSP00000221930⁴	I2D: score=1 STRING: ENSP00000221930
VTN	P04004³, ENSP00000226218⁴	I2D: score=1 STRING: ENSP00000226218
TGFBR1	ENSP00000364133⁴	STRING: ENSP00000364133
ACTB	ENSP00000349960⁴	STRING: ENSP00000349960

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001573	ganglioside metabolic process	IEA	--
GO:0007155	cell adhesion	TAS	1918072
GO:0007160	cell-matrix adhesion	IEA	--
GO:0007229	integrin-mediated signaling pathway	IEA	--
GO:0060674	placenta blood vessel development	TAS	19267251

ITGB8 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ITGB8
Search CenterWatch for drugs/clinical trials and news about ITGB8 / ITB8

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ITGB8 gene:

NM_002214.2

Unigene Cluster for ITGB8:

Integrin, beta 8

Hs.592171 [show with all ESTs]

Unigene Representative Sequence: NM_002214

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000478974(uc003sut.3) ENST00000222573(uc003suu.3) ENST00000460204

ENST00000477859 ENST00000537992(uc011jyh.2)

miRNA Products:		OriGene 3'-UTR Clone: ITGB8 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITGB8
		8/158 QIAGEN miScript miRNA Assays for microRNAs that regulate ITGB8 (see all 158):
		hsa-miR-376b hsa-miR-106a hsa-miR-199a-3p hsa-miR-134 hsa-miR-342-3p hsa-miR-642b hsa-miR-130b hsa-miR-761

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITGB8 (see all 7) OriGene shRNA RFP: ITGB8 OriGene siRNA: ITGB8
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITGB8

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITGB8 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITGB8 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ITGB8 (NM_002214)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGB8
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGB8

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ITGB8 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ITGB8
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITGB8
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITGB8

Additional cDNA sequence:

AK295044.1 BC002630.2 BC042028.1 BT006739.1 M73780.1

7 DOTS entries:

DT.408964 DT.95357132 DT.443137 DT.445435 DT.95367911 DT.97843178 DT.100666033

24/76 AceView cDNA sequences (see all 76):

W56754 AL710619 AA290800 BM760166 BT006739 BM760896 BC002630 BM759177

BM760952 BM745694 BM760098 AA479848 BP349525 BM759989 BM747407 BX484599

AA419198 BM739870 AA479726 AA419179 W56709 AU157309 BX643310 BF931620

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for ITGB8 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5a	·	5b	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15	^	16
SP1:					-		-																		-								-
SP2:					-		-																		-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ITGB8

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ITGB8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTTGTATCA

About this image

ITGB8 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Medulla Oblongata

Brain

Neural Tube

Diencephalic Ventricular Zone

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Telencephalon

Neural Tube

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ITGB8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ITGB8

SOURCE GeneReport for Unigene cluster: Hs.592171

UniProtKB/Swiss-Prot: ITB8_HUMAN, P26012

Tissue specificity: Placenta, kidney, brain, ovary, uterus and in several transformed cells. Transiently expressed in

293 human embryonic kidney cells

SABiosciences Expression via Pathway-Focused PCR Array including ITGB8:

Fibrosis in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ITGB8 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ITGB8
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITGB8
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITGB8

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB8

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ITGB8 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ITGB8¹	integrin, beta 8	73.13(n) 72.59(a)		395470 XM_003640686.1 XP_003640734.1
lizard (Anolis carolinensis)	Reptilia	ITGB8⁶	--	68(a)	1 ↔ 1	6(29229322-29257327)
zebrafish (Danio rerio)	Actinopterygii	itgb8¹	integrin, beta 8	57.01(n) 51.66(a)		556752 XM_001919591.3 XP_001919626.3
fruit fly (Drosophila melanogaster)	Insecta	betaInt-nu⁶	beta[nu] integrin	24(a)	possible ortholog	2L(21053033-21058044)
worm (Caenorhabditis elegans)	Secernentea	C05D9.3⁶	Uncharacterized integrin beta-like protein C05D9.3...	21(a)	1 → many	X(1111900-1116791)

ENSEMBL Gene Tree for ITGB8 (if available)
TreeFam Gene Tree for ITGB8 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ITGB8 gene

ITGB4² ITGB1² ENSG00000259753² ITGB2² ITGB7² ITGB3² ITGBL1² ITGB6²

ITGB5²

7 SIMAP similar genes for ITGB8 using alignment to 3 protein entries: ITB8_HUMAN (see all proteins):

ITGB6 ITGB5 ITGB3 ITGB1 ITGB7 ITGB4

ITGB2

ITGB8 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs116689966^1,2	F,	--	20368754(+)	`CTGTGA/TCATAA`	1	--	us2k¹		1		WA	118
rs114391104^1,2		--	20368793(+)	`GGAAGA/CGTCAC`	1	--	us2k¹		1		WA	118
rs62456080^1,2	C,	--	20368809(+)	`AGATAT/CTGAAT`	1	--	us2k¹		5		NA WA EA	362
rs149337850^1,2		--	20368951(+)	`TAAAGC/TGGAGC`	1	--	us2k¹		0	--	--	--	--
rs144851537^1,2		--	20369016(+)	`AAGGTC/TGGGAT`	1	--	us2k¹		0	--	--	--	--
rs140153262^1,2		--	20369036(+)	`GGTCTA/CGCGAA`	1	--	us2k¹		0	--	--	--	--
rs145641446^1,2		--	20369046(+)	`AGGGAA/CCTGCT`	1	--	us2k¹		0	--	--	--	--
rs182796464^1,2		--	20369127(+)	`TTGTGC/TGGTCC`	1	--	us2k¹		0	--	--	--	--
rs117373185^1,2	F,	--	20369299(+)	`AAACTC/GCCGCA`	1	--	us2k¹		1		EA	120
rs2892991^1,2	C,H	--	20369647(+)	`TGCTGC/GTGTCT`	1	--	us2k¹		4		NS EA	416

HapMap Linkage Disequilibrium report for ITGB8 (20370325 - 20455382 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ITGB8
3 CNVs: 6534 6536 6535

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ITGB8

DNA2.0 Custom Variant and Variant Library Synthesis for ITGB8

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ITGB8 for disorders           About GeneDecksing

OMIM gene information: 604160    OMIM disorders: --

14 diseases for ITGB8:    About MalaCards

non-small cell lung carcinoma arteriovenous malformation laryngeal squamous cell carcinoma squamous cell carcinoma

laryngitis polyneuropathy lung carcinoma hepatitis b

cervical cancer cervicitis carcinoma glioblastoma

hepatitis fibrosis

1 Novoseek disease relationship for ITGB8 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cancer	5.42	1	14571772 (1)

Human Genome Epidemiology (HuGE) Navigator: ITGB8 (3 documents)

Export disorders for ITGB8 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ITGB8 gene, integrated from 9 sources (see all 33):
(articles sorted by number of sources associating them with ITGB8)

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Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)^{1, 2} Scherer S.W.... Tsui L.-C. (2003)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
Cloning and expression of a divergent integrin subunit beta 8. (PubMed id 1918072)^{1, 2} Moyle M.... McLean J.W. (1991)
Integrin alpha v beta 8. Interaction with vitronectin and functional divergence of the beta 8 cytoplasmic domain. (PubMed id 7525578)^{1, 9} Nishimura S.L....Pytela R. (1994)
Defective retinal vascular endothelial cell developmen t as a consequence of impaired integrin aVb8-mediated activation of transforming growth factor-b. (PubMed id 22279205)¹ Arnold T.D....Reichardt L.F. (2012)
Interleukin-1beta induces increased transcriptional a ctivation of the transforming growth factor-beta-activating integrin subunit be ta8 through altering chromatin architecture. (PubMed id 21878622)¹ Markovics J.A....Nishimura S.L. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
MicroRNA miR-93 promotes tumor growth and angiogenesi s by targeting integrin-I^8. (PubMed id 20956944)¹ Fang L....Yang B.B. (2011)
Glioblastoma angiogenesis and tumor cell invasiveness are differentially regulated by I^8 integrin. (PubMed id 21859829)¹ Tchaicha J.H....McCarty J.H. (2011)
Mouse and human lung fibroblasts regulate dendritic c ell trafficking, airway inflammation, and fibrosis through integrin I+vI^8-mediat ed activation of TGF-I^. (PubMed id 21646718)¹ Kitamura H....Nishimura S.L. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3696	HGNC: 6163	AceView: ITGB8	Ensembl:ENSG00000105855	euGenes: HUgn3696
ECgene: ITGB8	Kegg: 3696	H-InvDB: ITGB8

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ITGB8	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ITGB8	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for ITGB8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ITGB8 gene:
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