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Gene : FKRP Homo sapiens

Name  ? fukutin related protein Cytological Location  19q13.32
Brief Description  fukutin related protein
Description  This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
  • synonyms:
  • FKTR,
  • OTTHUMG00000183177,
  • AJ314847,
  • MDDGB5,
  • FKRP,
  • LGMD2I,
  • LGMDR9,
  • LGMD2I,
  • NM_024301,
  • HGNC:17997,
  • MDC1C,
  • uc002pfn.3,
  • FKTR,
  • MDDGA5,
  • MDC1C,
  • MDDGC5
  • identifiers:
  • 79147,
  • ENSG00000181027,
  • FKRP

Genome feature

Region: gene ? Length: 12561  
Location: 19:46746015-46758575 Cyto location: 19q13.32


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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

4 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

3753 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results