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Gene : CLTRN Homo sapiens

Name  ? collectrin, amino acid transport regulator Cytological Location  Xp22.2
Brief Description  collectrin, amino acid transport regulator
Description  This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]
  • synonyms:
  • NX17,
  • NX-17,
  • TMEM27,
  • HGNC:29437,
  • collectrin,
  • CLTRN,
  • NX17,
  • AF229179,
  • OTTHUMG00000021181,
  • uc004cxc.4,
  • NM_020665,
  • transmembrane protein 27,
  • TMEM27
  • identifiers:
  • 57393,
  • ENSG00000147003,
  • CLTRN

Genome feature

Region: gene ? Length: 48307  
Location: X:15627318-15675624 reverse strand Cyto location: Xp22.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

0 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

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Other

3740 SNPs

5 Cross References

14 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results