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Gene : ASPM Homo sapiens

Name  ? abnormal spindle microtubule assembly Cytological Location  1q31.3
Brief Description  abnormal spindle microtubule assembly
description  This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
  • synonyms:
  • HGNC:19048,
  • OTTHUMG00000036277,
  • asp (abnormal spindle)-like, microcephaly associated (Drosophila),
  • microcephaly, primary autosomal recessive 5,
  • AY367065,
  • NM_018136,
  • FLJ10549,
  • ASP,
  • FLJ10517,
  • uc001gtu.4,
  • MCPH5,
  • Calmbp1,
  • MCPH5,
  • ASPM,
  • asp (abnormal spindle) homolog, microcephaly associated (Drosophila),
  • ASP,
  • Calmbp1
  • identifiers:
  • 259266,
  • ENSG00000066279,
  • ASPM

Genome feature

Region: gene ? Length: 62568  
Location: 1:197084127-197146694 reverse strand Cyto location: 1q31.3


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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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

16 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results