• Gene id: 3691

Gene Summary

• Gene Symbol: ITGB4   Gene   UCSC   Ensembl
• Aliases: CD104, GP150
• Gene name: integrin subunit beta 4
• Alternate names: integrin beta-4, CD104 antigen,
• Gene location: 17q25.1 (75721338: 75757818)     Exons: 32     NC_000017.11
• Gene summary(Entrez): Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities.
• OMIM: 147557

Protein Summary

• Protein general information: P16144  
  • Name: Integrin beta 4 (GP150) (CD antigen CD104)
  • Length: 1822  
  • Mass: 202167
  • Tissue specificity: Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen and stomach.
• Sequence:

  MAGPRPSPWARLLLAALISVSLSGTLANRCKKAPVKSCTECVRVDKDCAYCTDEMFRDRRCNTQAELLAAGCQRE
  SIVVMESSFQITEETQIDTTLRRSQMSPQGLRVRLRPGEERHFELEVFEPLESPVDLYILMDFSNSMSDDLDNLK
  KMGQNLARVLSQLTSDYTIGFGKFVDKVSVPQTDMRPEKLKEPWPNSDPPFSFKNVISLTEDVDEFRNKLQGERI
  SGNLDAPEGGFDAILQTAVCTRDIGWRPDSTHLLVFSTESAFHYEADGANVLAGIMSRNDERCHLDTTGTYTQYR
  TQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHTYFPVSSLGVLQEDSSNIVELLEEAFNRIRSNLDIRAL
  DSPRGLRTEVTSKMFQKTRTGSFHIRRGEVGIYQVQLRALEHVDGTHVCQLPEDQKGNIHLKPSFSDGLKMDAGI
  ICDVCTCELQKEVRSARCSFNGDFVCGQCVCSEGWSGQTCNCSTGSLSDIQPCLREGEDKPCSGRGECQCGHCVC
  YGEGRYEGQFCEYDNFQCPRTSGFLCNDRGRCSMGQCVCEPGWTGPSCDCPLSNATCIDSNGGICNGRGHCECGR
  CHCHQQSLYTDTICEINYSAIHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDELKRAEEVVVRCSFRD
  EDDDCTYSYTMEGDGAPGPNSTVLVHKKKDCPPGSFWWLIPLLLLLLPLLALLLLLCWKYCACCKACLALLPCCN
  RGHMVGFKEDHYMLRENLMASDHLDTPMLRSGNLKGRDVVRWKVTNNMQRPGFATHAASINPTELVPYGLSLRLA
  RLCTENLLKPDTRECAQLRQEVEENLNEVYRQISGVHKLQQTKFRQQPNAGKKQDHTIVDTVLMAPRSAKPALLK
  LTEKQVEQRAFHDLKVAPGYYTLTADQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEAIDVPAGTATLG
  RRLVNITIIKEQARDVVSFEQPEFSVSRGDQVARIPVIRRVLDGGKSQVSYRTQDGTAQGNRDYIPVEGELLFQP
  GEAWKELQVKLLELQEVDSLLRGRQVRRFHVQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHG
  DLGAPQNPNAKAAGSRKIHFNWLPPSGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYG
  AQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNDDNRPIGPMKKVLV
  DNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQPKRPMSIPIIPDIPIVDAQSGEDYDSFLMYS
  DDVLRSPSGSQRPSVSDDTGCGWKFEPLLGEELDLRRVTWRLPPELIPRLSASSGRSSDAEAPHGPPDDGGAGGK
  GGSLPRSATPGPPGEHLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHVPHRVLSTSSTLTRDYNSLTRSEH
  SHSTTLPRDYSTLTSVSSHDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGYSVEYQLLNGGELHRL
  NIPNPAQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFT
  ALSPDSLQLSWERPRRPNGDIVGYLVTCEMAQGGGPATAFRVDGDSPESRLTVPGLSENVPYKFKVQARTTEGFG
  PEREGIITIESQDGGPFPQLGSRAGLFQHPLQSEYSSITTTHTSATEPFLVDGLTLGAQHLEAGGSLTRHVTQEF
  VSRTLTTSGTLSTHMDQQFFQT

• Structural information:
  • Protein Domains: (29..7-)
    (/note="PSI-)
    (131..32-)
    (/note="VWFA-)
    (979..108-)
    (/note="Calx-beta-)
    (1129..121-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (1222..132-)
    2 (/note="Fibronectin-type-III)
    (-)
  • Interpro: IPR038081  IPR003644  IPR013032  IPR013111  IPR003961   IPR036116  IPR040622  IPR013783  IPR033760  IPR015812  IPR012013  IPR012896  IPR036349  IPR002369  IPR016201  IPR036465  
  • Prosite: PS00022 PS01186 PS50853 PS00243
  • CDD: cd00063
  • PDB: 1QG3 2YRZ 3F7P 3F7Q 3F7R 3FQ4 3FSO 3H6A 4Q58 4WTW 4WTX 6GVK 6GVL
  • PDBsum: 1QG3 2YRZ 3F7P 3F7Q 3F7R 3FQ4 3FSO 3H6A 4Q58 4WTW 4WTX 6GVK 6GVL
  • DIP: 40182
  • STRING: ENSP00000200181
• Other Databases: GeneCards:  ITGB4  Malacards:  ITGB4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033627	cell adhesion mediated by integrin	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0007229	integrin-mediated signaling pathway	IBA	biological process
GO:0007160	cell-matrix adhesion	IBA	biological process
GO:0005925	focal adhesion	IBA	cellular component
GO:0005178	integrin binding	IBA	molecular function
GO:0009611	response to wounding	IDA	biological process
GO:0031581	hemidesmosome assembly	IDA	biological process
GO:0031252	cell leading edge	IDA	cellular component
GO:0030056	hemidesmosome	IDA	cellular component
GO:0038132	neuregulin binding	IDA	contributes to
GO:0031994	insulin-like growth factor I binding	IDA	contributes to
GO:0048870	cell motility	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007154	cell communication	IEA	biological process
GO:0007160	cell-matrix adhesion	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0048870	cell motility	IEA	biological process
GO:0008305	integrin complex	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0031581	hemidesmosome assembly	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	NAS	biological process
GO:0008305	integrin complex	TAS	cellular component
GO:0043235	receptor complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0031581	hemidesmosome assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030056	hemidesmosome	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0007160	cell-matrix adhesion	IMP	biological process
GO:0006914	autophagy	IMP	biological process
GO:0035878	nail development	IMP	biological process
GO:0043589	skin morphogenesis	IMP	biological process
GO:0048333	mesodermal cell differentiation	IEP	biological process
GO:0001664	G protein-coupled receptor binding	IPI	molecular function
GO:0001664	G protein-coupled receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031581	hemidesmosome assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa05414	Dilated cardiomyopathy
hsa04512	ECM-receptor interaction
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Uterine receptivity	INFBASE: 10519628
Epidermolysis bullosa	KEGG:H00586
Epidermolysis bullosa	KEGG:H00586
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R