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Gene : ERCC6L2 Homo sapiens

Name  ? ERCC excision repair 6 like 2 Cytological Location  9q22.32
Brief Description  ERCC excision repair 6 like 2
Description  This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]
  • synonyms:
  • NM_001010895,
  • SR278,
  • HEBO,
  • chromosome 9 open reading frame 102,
  • RAD26L,
  • BC022957,
  • uc004avt.5,
  • HGNC:26922,
  • BMFS2,
  • HEBO,
  • OTTHUMG00000020289,
  • excision repair cross-complementation group 6 like 2,
  • C9orf102,
  • ERCC6L2,
  • FLJ37706,
  • excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,
  • C9orf102,
  • RAD26L
  • identifiers:
  • 375748,
  • ENSG00000182150,
  • ERCC6L2

Genome feature

Region: gene ? Length: 165461  
Location: 9:95875632-96041092 Cyto location: 9q22.32


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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

1 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

3 Homologues

0 Located Features

97 Rna Seq Results