Gene: ERGIC2

Alternate names for this Gene: CDA14|Erv41|PTX1|cd002

Gene Summary: ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.452088.1, AL834128.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000360150.9/ ENSP00000353270.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Gene is located in Chromosome: 12

Location in Chromosome : 12p11.22

Description of this Gene: ERGIC and golgi 2

Type of Gene: protein-coding

rs10128781 in ERGIC2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs1156242 in ERGIC2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.