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Gene : CCDC115 Homo sapiens

Name  ? coiled-coil domain containing 115 Cytological Location  2q21.1
Brief Description  coiled-coil domain containing 115
description  The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]
  • synonyms:
  • NM_032357,
  • HGNC:28178,
  • uc002tqy.3,
  • CDG2O,
  • OTTHUMG00000131631,
  • FLJ30131,
  • CCDC115,
  • AK054693,
  • ccp1,
  • MGC12981,
  • ccp1
  • identifiers:
  • 84317,
  • ENSG00000136710,
  • CCDC115

Genome feature

Region: gene ? Length: 4749  
Location: 2:130337933-130342681 reverse strand Cyto location: 2q21.1


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Function

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0 Pathways

Gene --> GO terms.

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)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

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

905 SN Ps

5 Cross References

17 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results