Gene: SENP2

Alternate names for this Gene: AXAM2|SMT3IP2

Gene Summary: SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM, Apr 2004]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK027599.1, SRR1803612.111258.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000296257.10/ ENSP00000296257.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.2

Description of this Gene: SUMO specific peptidase 2

Type of Gene: protein-coding

rs6762208 in SENP2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

rs12374077 in SENP2 gene and Diastolic blood pressure PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs7638853 in SENP2 gene and Electrocardiogram: P-R interval PMID 30046033 2018 PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

rs13081203 in SENP2 gene and Glomerular Filtration Rate PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs4687477 in SENP2 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.