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Gene : HYDIN Homo sapiens

Name  ? HYDIN axonemal central pair apparatus protein Cytological Location  16q22.2
Brief Description  HYDIN axonemal central pair apparatus protein
Description  This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]
  • synonyms:
  • PPP1R31,
  • uc021tkq.3,
  • KIAA1864,
  • DKFZp434D0513,
  • hydrocephalus inducing homolog (mouse),
  • OTTHUMG00000137584,
  • HYDIN1,
  • CILD5,
  • protein phosphatase 1, regulatory subunit 31,
  • HYDIN,
  • HYDIN2,
  • NM_001198542,
  • hydrocephalus inducing,
  • PPP1R31,
  • CILD5,
  • AK074472,
  • HGNC:19368
  • identifiers:
  • 54768,
  • ENSG00000157423,
  • HYDIN

Genome feature

Region: gene ? Length: 428639  
Location: 16:70802084-71230722 reverse strand Cyto location: 16q22.2


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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.

Gene --> GO terms.

Gene --> Overlapping genes.

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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Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

300 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results