• Gene id: 3694

Gene Summary

• Gene Symbol: ITGB6   Gene   UCSC   Ensembl
• Aliases: AI1H
• Gene name: integrin subunit beta 6
• Alternate names: integrin beta-6, integrin, beta 6,
• Gene location: 2q24.2 (160200312: 160099665)     Exons: 3     NC_000002.12
• Gene summary(Entrez): This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed o
• OMIM: 147558

SNPs

rs508485

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94621313C>T
NC_000011.9   g.94354479C>T
NM_152431.3   c.*321C>T
NM_152431.2   c.*321C>T|SEQ=[C/T]|GENE=PIWIL4
LOC105369438   105369438

rs7110167

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94587071T>C
NC_000011.9   g.94320237T>C
NM_152431.3   c.738T>C
NM_152431.2   c.738T>C|SEQ=[T/C]|GENE=PIWIL4
LOC105369438   105369438

rs57607909

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94593599G>C
NC_000011.9   g.94326765G>C
NM_152431.3   c.1108G>C
NM_152431.2   c.1108G>C
NP_689644.2   p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4
LOC105369438   105369438

rs593690

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94604054C>A
NC_000011.10   g.94604054C>T
NC_000011.9   g.94337220C>A
NC_000011.9   g.94337220C>T
NM_152431.3   c.1636C>A
NM_152431.3   c.1636C>T
NM_152431.2   c.1636C>A
NM_152431.2   c.1636C>T
NP_689644.2   p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4
L  

Protein Summary

• Protein general information: P18564  
  • Name: Integrin beta 6
  • Length: 788  
  • Mass: 85936
• Sequence:

  MGIELLCLFFLFLGRNDHVQGGCALGGAETCEDCLLIGPQCAWCAQENFTHPSGVGERCDTPANLLAKGCQLNFI
  ENPVSQVEILKNKPLSVGRQKNSSDIVQIAPQSLILKLRPGGAQTLQVHVRQTEDYPVDLYYLMDLSASMDDDLN
  TIKELGSRLSKEMSKLTSNFRLGFGSFVEKPVSPFVKTTPEEIANPCSSIPYFCLPTFGFKHILPLTNDAERFNE
  IVKNQKISANIDTPEGGFDAIMQAAVCKEKIGWRNDSLHLLVFVSDADSHFGMDSKLAGIVIPNDGLCHLDSKNE
  YSMSTVLEYPTIGQLIDKLVQNNVLLIFAVTQEQVHLYENYAKLIPGATVGLLQKDSGNILQLIISAYEELRSEV
  ELEVLGDTEGLNLSFTAICNNGTLFQHQKKCSHMKVGDTASFSVTVNIPHCERRSRHIIIKPVGLGDALELLVSP
  ECNCDCQKEVEVNSSKCHHGNGSFQCGVCACHPGHMGPRCECGEDMLSTDSCKEAPDHPSCSGRGDCYCGQCICH
  LSPYGNIYGPYCQCDNFSCVRHKGLLCGGNGDCDCGECVCRSGWTGEYCNCTTSTDSCVSEDGVLCSGRGDCVCG
  KCVCTNPGASGPTCERCPTCGDPCNSKRSCIECHLSAAGQAREECVDKCKLAGATISEEEDFSKDGSVSCSLQGE
  NECLITFLITTDNEGKTIIHSINEKDCPKPPNIPMIMLGVSLAILLIGVVLLCIWKLLVSFHDRKEVAKFEAERS
  KAKWQTGTNPLYRGSTSTFKNVTYKHREKQKVDLSTDC

• Structural information:
  • Protein Domains: (131..37-)
    (/note="VWFA"-)
  • Interpro: IPR013111  IPR040622  IPR033760  IPR015812  IPR015436   IPR014836  IPR012896  IPR036349  IPR002369  IPR032695  IPR016201  IPR036465  
  • Prosite: PS00022 PS01186 PS00243
  • PDB: 1LH9 4UM8 4UM9 5FFG 5FFO 5NEM 5NER 5NET 5NEU
  • PDBsum: 1LH9 4UM8 4UM9 5FFG 5FFO 5NEM 5NER 5NET 5NEU
  • DIP: 59187
  • STRING: ENSP00000283249
• Other Databases: GeneCards:  ITGB6  Malacards:  ITGB6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007160	cell-matrix adhesion	IBA	biological process
GO:0007229	integrin-mediated signaling pathway	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0033627	cell adhesion mediated by integrin	IBA	biological process
GO:0034685	integrin alphav-beta6 complex	IBA	cellular component
GO:0005178	integrin binding	IBA	molecular function
GO:0005925	focal adhesion	IBA	cellular component
GO:0033627	cell adhesion mediated by integrin	IDA	biological process
GO:0034685	integrin alphav-beta6 complex	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:1901388	regulation of transforming growth factor beta activation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007160	cell-matrix adhesion	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0005178	integrin binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0008305	integrin complex	IEA	cellular component
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0001618	virus receptor activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	TAS	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:0030198	extracellular matrix organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034685	integrin alphav-beta6 complex	IEA	cellular component
GO:0033627	cell adhesion mediated by integrin	IEA	biological process
GO:0038044	transforming growth factor-beta secretion	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0005178	integrin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0046718	viral entry into host cell	IEA	biological process

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
Amelogenesis imperfecta	KEGG:H00615
Amelogenesis imperfecta	KEGG:H00615
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 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