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Gene : LOC109611589 Homo sapiens

Name  ? runt related transcription factor 2 polyalanine expansion region Cytological Location  6p21.1
description  This biological region is found within the coding region of the runt related transcription factor 2 (RUNX2) gene on the p arm of chromosome 6. This region contains both a polyglutamine and polyalanine stretch that are susceptible to expansions and deletions, resulting in cleidocranial dysplasia (CCD). Polyalanine expanded gene products can mislocalize from the nucleus to the cytoplasm, and form protein aggregates. Changes in the polyglutamine-coding stretch can disrupt the encoded protein. [provided by RefSeq, Jan 2017]
  • identifiers:
  • 109611589,
  • LOC109611589

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: 6p21.1


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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

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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

0 SN Ps

1 Cross References

3 Data Sets

0 Homologues

0 Located Features

0 Rna Seq Results