Gene: ERC1

Alternate names for this Gene: Cast2|ELKS|ERC-1|RAB6IP2

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.33

Description of this Gene: ELKS/RAB6-interacting/CAST family member 1

Type of Gene: protein-coding

rs10128898 in ERC1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 29782485 2018 Evaluation and application of summary statistic imputation to discover new height-associated loci.

rs12301937 in ERC1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs12298813 in ERC1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.