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Gene : FERMT1 Homo sapiens

Name  ? fermitin family member 1 Cytological Location  20p12.3
Brief Description  fermitin family member 1
Description  This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]
  • synonyms:
  • DTGCU2,
  • UNC112A,
  • FLJ20116,
  • HGNC:15889,
  • FERMT1,
  • C20orf42,
  • kinderlin,
  • AK000123,
  • URP1,
  • fermitin family homolog 1 (Drosophila),
  • chromosome 20 open reading frame 42,
  • OTTHUMG00000031826,
  • C20orf42,
  • KIND1,
  • kindlin-1,
  • KIND1,
  • NM_017671,
  • URP1,
  • uc002wmr.3,
  • UNC112A
  • identifiers:
  • 55612,
  • ENSG00000101311,
  • FERMT1

Genome feature

Region: gene ? Length: 48765  
Location: 20:6074845-6123609 reverse strand Cyto location: 20p12.3


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

424 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results