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Gene : RPGRIP1L Homo sapiens

Name  ? RPGRIP1 like Cytological Location  16q12.2
Brief Description  RPGRIP1 like
description  The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
  • synonyms:
  • PPP1R134,
  • MKS5,
  • JBTS7,
  • fantom homolog,
  • CORS3,
  • NM_015272,
  • KIAA1005,
  • CORS3,
  • Meckel syndrome, type 5,
  • protein phosphatase 1, regulatory subunit 134,
  • HGNC:29168,
  • MKS5,
  • NPHP8,
  • NPHP8,
  • uc002eho.5,
  • OTTHUMG00000173125,
  • JBTS7,
  • PPP1R134,
  • RPGRIP1L,
  • FTM,
  • FTM,
  • RPGRIP1-like
  • identifiers:
  • 23322,
  • ENSG00000103494,
  • RPGRIP1L

Genome feature

Region: gene ? Length: 104700  
Location: 16:53599239-53703938 reverse strand Cyto location: 16q12.2


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Function

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

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

Gene --> Alleles and Disease (clinVar data)

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

416 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results