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Gene : PPEF1 Homo sapiens

Name  ? protein phosphatase with EF-hand domain 1 Cytological Location  Xp22.13
Brief Description  protein phosphatase with EF-hand domain 1
description  This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. [provided by RefSeq, Jul 2008]
  • synonyms:
  • PPP7CA,
  • PPEF1,
  • PPP7CA,
  • BC036026,
  • uc004cyq.4,
  • PPP7C,
  • PP7,
  • protein phosphatase, EF-hand calcium binding domain 1,
  • OTTHUMG00000021219,
  • NM_006240,
  • protein phosphatase 7, catalytic subunit, alpha isozyme,
  • PPEF,
  • PPEF,
  • HGNC:9243
  • identifiers:
  • 5475,
  • ENSG00000086717,
  • PPEF1

Genome feature

Region: gene ? Length: 152013  
Location: X:18675909-18827921 Cyto location: Xp22.13

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Gene -> HPO annotation (Human Phenotype Ontology)

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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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416 SN Ps

5 Cross References

14 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results