GENETIC ENCYCLOPEDIA
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gene: RIMS2

id9699
symbolRIMS2
organismHomo sapiens
full nameregulating synaptic membrane exocytosis 2
summaryThe protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
variant-disease

GRCh37/hg19 8q22.3(chr8:104996667-105229526)x3 AND Premature ovarian failure

NM_001100117.3(RIMS2):c.3293G>T (p.Arg1098Leu) AND not specified

GRCh37/hg19 8q22.3(chr8:104490859-104712310)x1 AND not provided

GRCh37/hg19 8q22.3(chr8:104745597-104760649)x1 AND not provided

GRCh37/hg19 8q22.3(chr8:104759219-104761091)x1 AND not provided

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