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Immunogen sequence: STNNSIMSEN TEIDSSLNGV RPKLGRRHSM ENMELMKLTP EKVQNWNSEI LAKQKPLIAK PSAKLLFVNR LKGKKYKTNS STKVLQDASN SIDHRIPNSQ RKISADTIGD E; Positive Samples: B cells, HeLa, Mouse brain, Mouse liver, Mouse kidney; Cellular Location: Cytoplasm, cell cortex
The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness.
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Protein Aliases: G-protein signalling modulator 2 (AGS3-like, C. elegans); G-protein-signaling modulator 2; HGNC:29501; LGN protein; Mosaic protein LGN; Pins homolog; pins homolog (Drosophia)
Gene Aliases: 6230410J09Rik; CMCS; DFNB82; GPSM2; LGN; PINS
UniProt ID: (Human) P81274, (Mouse) Q8VDU0
Entrez Gene ID: (Human) 29899, (Mouse) 76123
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