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Gene : GEMIN5 Homo sapiens

Name  ? gem nuclear organelle associated protein 5 Cytological Location  5q33.2
Brief Description  gem nuclear organelle associated protein 5
Description  This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
  • synonyms:
  • HGNC:20043,
  • uc003lvx.4,
  • GEMIN-5,
  • AK022748,
  • OTTHUMG00000130189,
  • gem (nuclear organelle) associated protein 5,
  • NM_001252156,
  • GEMIN5
  • identifiers:
  • 25929,
  • ENSG00000082516,
  • GEMIN5

Genome feature

Region: gene ? Length: 50806  
Location: 5:154887411-154938216 reverse strand Cyto location: 5q33.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

0 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

3753 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results