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Gene : DYM Homo sapiens

Name  ? dymeclin Cytological Location  18q21.1
Brief Description  dymeclin
Description  This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]
  • synonyms:
  • DYM,
  • DMC,
  • NM_017653,
  • uc002ldi.2,
  • FLJ20071,
  • HGNC:21317,
  • OTTHUMG00000132659,
  • SMC,
  • DMC,
  • SMC,
  • AK000078
  • identifiers:
  • 54808,
  • ENSG00000141627,
  • DYM

Genome feature

Region: gene ? Length: 424323  
Location: 18:49036387-49460709 reverse strand Cyto location: 18q21.1


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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

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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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

3753 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results