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Gene : CERKL Homo sapiens

Name  ? ceramide kinase like Cytological Location  2q31.3
Brief Description  ceramide kinase like
Description  This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]
  • synonyms:
  • HGNC:21699,
  • RP26,
  • ceramide kinase-like,
  • CERKL,
  • BC020465,
  • OTTHUMG00000154315,
  • RP26,
  • retinitis pigmentosa 26 (autosomal recessive),
  • NM_001030311,
  • uc010zfm.3
  • identifiers:
  • 375298,
  • ENSG00000188452,
  • CERKL

Genome feature

Region: gene ? Length: 120436  
Location: 2:181536672-181657107 reverse strand Cyto location: 2q31.3


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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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

582 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results