• Gene id: 83706

Gene Summary

• Gene Symbol: FERMT3   Gene   UCSC   Ensembl
• Aliases: KIND3, MIG-2, MIG2B, UNC112C, URP2, URP2SF
• Gene name: fermitin family member 3
• Alternate names: fermitin family homolog 3, MIG2-like protein, UNC-112 related protein 2, kindlin 3, unc-112-related protein 2,
• Gene location: 11q13.1 (64206661: 64223890)     Exons: 16     NC_000011.10
• Gene summary(Entrez): Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in t

Protein Summary

• Protein general information: Q86UX7  
  • Name: Fermitin family homolog 3 (Kindlin 3) (MIG2 like protein) (Unc 112 related protein 2)
  • Length: 667  
  • Mass: 75953
  • Tissue specificity: Highly expressed in lymph node. Expressed in thymus, spleen and leukocytes. Weakly expressed in placenta, small intestine, stomach, testis and lung. Overexpressed in B-cell malignancies. {ECO
• Sequence:

  MAGMKTASGDYIDSSWELRVFVGEEDPEAESVTLRVTGESHIGGVLLKIVEQINRKQDWSDHAIWWEQKRQWLLQ
  THWTLDKYGILADARLFFGPQHRPVILRLPNRRALRLRASFSQPLFQAVAAICRLLSIRHPEELSLLRAPEKKEK
  KKKEKEPEEELYDLSKVVLAGGVAPALFRGMPAHFSDSAQTEACYHMLSRPQPPPDPLLLQRLPRPSSLSDKTQL
  HSRWLDSSRCLMQQGIKAGDALWLRFKYYSFFDLDPKTDPVRLTQLYEQARWDLLLEEIDCTEEEMMVFAALQYH
  INKLSQSGEVGEPAGTDPGLDDLDVALSNLEVKLEGSAPTDVLDSLTTIPELKDHLRIFRIPRRPRKLTLKGYRQ
  HWVVFKETTLSYYKSQDEAPGDPIQQLNLKGCEVVPDVNVSGQKFCIKLLVPSPEGMSEIYLRCQDEQQYARWMA
  GCRLASKGRTMADSSYTSEVQAILAFLSLQRTGSGGPGNHPHGPDASAEGLNPYGLVAPRFQRKFKAKQLTPRIL
  EAHQNVAQLSLAEAQLRFIQAWQSLPDFGISYVMVRFKGSRKDEILGIANNRLIRIDLAVGDVVKTWRFSNMRQW
  NVNWDIRQVAIEFDEHINVAFSCVSASCRIVHEYIGGYIFLSTRERARGEELDEDLFLQLTGGHEAF

• Structural information:
  • Protein Domains: (229..55-)
    (/note="FERM-)
    (354..45-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR019749  IPR035963  IPR019748  IPR037843  IPR040790   IPR011993  IPR001849  IPR037837  
  • Prosite: PS00661 PS50003
  • CDD: cd14473 cd01237
  • PDB: 2YS3
  • PDBsum: 2YS3
  • STRING: ENSP00000279227
• Other Databases: GeneCards:  FERMT3  Malacards:  FERMT3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033632	regulation of cell-cell adhesion mediated by integrin	IBA	biological process
GO:0007160	cell-matrix adhesion	IBA	biological process
GO:0007159	leukocyte cell-cell adhesion	IBA	biological process
GO:0070527	platelet aggregation	IBA	biological process
GO:0033622	integrin activation	IBA	biological process
GO:0030055	cell-substrate junction	IBA	cellular component
GO:0005178	integrin binding	IBA	molecular function
GO:0033632	regulation of cell-cell adhesion mediated by integrin	IDA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0033622	integrin activation	IDA	biological process
GO:0007159	leukocyte cell-cell adhesion	IMP	biological process
GO:0002102	podosome	ISS	cellular component
GO:0070527	platelet aggregation	ISS	biological process
GO:0033622	integrin activation	IMP	biological process
GO:0005178	integrin binding	ISS	molecular function
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0002102	podosome	IEA	cellular component
GO:0007159	leukocyte cell-cell adhesion	IEA	biological process
GO:0033632	regulation of cell-cell adhesion mediated by integrin	IEA	biological process
GO:0005178	integrin binding	IEA	molecular function
GO:0033622	integrin activation	IEA	biological process
GO:0070527	platelet aggregation	IEA	biological process
GO:0002102	podosome	IEA	cellular component
GO:0070527	platelet aggregation	HMP	biological process
GO:0034446	substrate adhesion-dependent cell spreading	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0007229	integrin-mediated signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04611	Platelet activation

Diseases

Associated diseases	References
Leukocyte adhesion deficiency	KEGG:H00099
Leukocyte adhesion deficiency	KEGG:H00099
Leukocyte adhesion deficiency 3	PMID:19234463
acute myeloid leukemia	PMID:22391155
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq