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Gene : FERMT3 Homo sapiens

Name  ? fermitin family member 3 Cytological Location  11q13.1
Brief Description  fermitin family member 3
description  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 the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
  • synonyms:
  • MGC10966,
  • L25343,
  • URP2SF,
  • OTTHUMG00000167790,
  • NM_031471,
  • MIG2B,
  • MIG2B,
  • UNC112C,
  • MIG-2,
  • uc001nym.3,
  • URP2,
  • UNC112C,
  • KIND3,
  • KIND3,
  • URP2,
  • HGNC:23151,
  • fermitin family homolog 3 (Drosophila),
  • kindlin-3,
  • MIG-2,
  • FERMT3
  • identifiers:
  • 83706,
  • ENSG00000149781,
  • FERMT3

Genome feature

Region: gene ? Length: 17230  
Location: 11:64206662-64223891 Cyto location: 11q13.1


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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

70 SN Ps

5 Cross References

17 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results