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Gene : CFAP410 Homo sapiens

Name  ? cilia and flagella associated protein 410 Cytological Location  21q22.3
Brief Description  cilia and flagella associated protein 410
Description  Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
  • synonyms:
  • OTTHUMG00000086909,
  • nuclear encoded mitochondrial protein,
  • chromosome 21 open reading frame 2,
  • leucine rich repeat containing 76,
  • NM_004928,
  • C21orf2,
  • C21orf2,
  • YF5/A2,
  • HGNC:1260,
  • Y11392,
  • A2,
  • RDMS,
  • LRRC76,
  • SMDAX,
  • YF5,
  • uc002zep.2,
  • CFAP410,
  • LRRC76
  • identifiers:
  • 755,
  • ENSG00000160226,
  • CFAP410

Genome feature

Region: gene ? Length: 10474  
Location: 21:44328944-44339417 reverse strand Cyto location: 21q22.3


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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 --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results