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Gene : FRMPD2 Homo sapiens

Name  ? FERM and PDZ domain containing 2 Cytological Location  10q11.22
Brief Description  FERM and PDZ domain containing 2
Description  This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]
  • synonyms:
  • PDZ domain containing 5C,
  • PDZK4,
  • FRMPD2,
  • AK123038,
  • NM_152428,
  • PDZK5C,
  • HGNC:28572,
  • PDZK5C,
  • OTTHUMG00000018171,
  • PDZD5C,
  • uc001jgi.5,
  • PDZD5C,
  • MGC35285
  • identifiers:
  • 143162,
  • ENSG00000170324,
  • FRMPD2

Genome feature

Region: gene ? Length: 118138  
Location: 10:48156559-48274696 reverse strand Cyto location: 10q11.22


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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Proteins

Gene --> Proteins.

SNPs

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Disease

0 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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

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Other

0 Pathways

438 SN Ps

5 Cross References

14 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results