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Gene : PKHD1 Homo sapiens

Name  ? PKHD1 ciliary IPT domain containing fibrocystin/polyductin Cytological Location  6p12.3-p12.2
Brief Description  PKHD1, fibrocystin/polyductin
description  The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
  • synonyms:
  • FPC,
  • uc003pah.2,
  • fibrocystin/polyductin complex,
  • PKHD1, fibrocystin/polyductin,
  • FCYT,
  • TIGM1,
  • HGNC:9016,
  • PKHD1,
  • TIGM1,
  • TIG multiple domains 1,
  • polycystic kidney and hepatic disease 1 (autosomal recessive),
  • FCYT,
  • NM_138694,
  • tigmin,
  • fibrocystin,
  • OTTHUMG00000014841,
  • ARPKD,
  • ARPKD,
  • polyductin,
  • FPC,
  • PKD4,
  • AF480064
  • identifiers:
  • 5314,
  • ENSG00000170927,
  • PKHD1

Genome feature

Region: gene ? Length: 472941  
Location: 6:51614685-52087625 reverse strand Cyto location: 6p12.3-p12.2


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0 Pathways

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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]

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Expression

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

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0 Pathways

2011 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

90 Rna Seq Results