FERMT3 (FERM domain containing kindlin 3)

2014-06-01  

Identity

HGNC
LOCATION
11q13.1
LOCUSID
ALIAS
KIND3,MIG-2,MIG2B,UNC112C,URP2,URP2SF

Other Information

Locus ID:

NCBI: 83706
MIM: 607901
HGNC: 23151
Ensembl: ENSG00000149781

Variants:

dbSNP: 83706
ClinVar: 83706
TCGA: ENSG00000149781
COSMIC: FERMT3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149781ENST00000279227Q86UX7
ENSG00000149781ENST00000345728Q86UX7
ENSG00000149781ENST00000541252F5H3I6
ENSG00000149781ENST00000544997F5H1C6
ENSG00000149781ENST00000545896H0YFT5

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Platelet activationKEGGhsa04611
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608

References

Pubmed IDYearTitleCitations
192344612009Kindlin-3 is required for beta2 integrin-mediated leukocyte adhesion to endothelial cells.147
192344632009Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation.126
192400212009Kindlin-1 and -2 directly bind the C-terminal region of beta integrin cytoplasmic tails and exert integrin-specific activation effects.110
190647212009LAD-1/variant syndrome is caused by mutations in FERMT3.70
203785392010The integrin co-activator Kindlin-3 is expressed and functional in a non-hematopoietic cell, the endothelial cell.53
187794142008Kindlin-3: a new gene involved in the pathogenesis of LAD-III.41
196175772009Loss of Kindlin-3 in LAD-III eliminates LFA-1 but not VLA-4 adhesiveness developed under shear flow conditions.38
198542922010The role of kindlins in cell biology and relevance to human disease.34
221341072012Hematologically important mutations: leukocyte adhesion deficiency (first update).31
244699922014Kindlin-3 enhances breast cancer progression and metastasis by activating Twist-mediated angiogenesis.30

Citation

Dessen P

FERMT3 (FERM domain containing kindlin 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53989/fermt3