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Gene : ERC1 Homo sapiens

Name  ? ELKS/RAB6-interacting/CAST family member 1 Cytological Location  12p13.33
Brief Description  ELKS/RAB6-interacting/CAST family member 1
Description  The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
  • synonyms:
  • RAB6IP2,
  • HGNC:17072,
  • MGC12974,
  • uc001qjb.3,
  • RAB6IP2,
  • RAB6 interacting protein 2,
  • OTTHUMG00000130138,
  • NM_015064,
  • ELKS,
  • ERC1,
  • AB015617,
  • ERC-1,
  • ELKS,
  • CAST2,
  • KIAA1081,
  • Cast2
  • identifiers:
  • 23085,
  • ENSG00000082805,
  • ERC1

Genome feature

Region: gene ? Length: 505904  
Location: 12:990030-1495933 Cyto location: 12p13.33


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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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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]

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Expression

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

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Other

0 Pathways

3753 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results