Gene: GOSR2

Alternate names for this Gene: Bos1|EPM6|GS27

Gene Summary: This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.32

Description of this Gene: golgi SNAP receptor complex member 2

Type of Gene: protein-coding

Gene: LRRC37A2

Alternate names for this Gene: LRRC37

Gene Summary:

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.31-q21.32

Description of this Gene: leucine rich repeat containing 37 member A2

Type of Gene: protein-coding

rs10853087 in GOSR2;LRRC37A2 gene and Blood urea nitrogen measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs197920 in GOSR2;LRRC37A2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1838105 in GOSR2;LRRC37A2 gene and Cleft Palate PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs1838105 in GOSR2;LRRC37A2 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

PMID 28054174 2017 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

rs387906881 in GOSR2;LRRC37A2 gene and EPILEPSY, PROGRESSIVE MYOCLONIC, 6 PMID 21549339 2011 A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

rs1568177307 in GOSR2;LRRC37A2 gene and Myoclonic Epilepsies, Progressive PMID 21549339 2011 A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.