SH3BP2 (SH3 domain-binding protein 2) is a protein that comes from a gene located on Chromosome 4. SH3BP2 binds differentially to the SH3 domains of certain...
971 bytes (89 words) - 06:16, 11 September 2017
fragile X syndrome. Mutations of the SH3BP2 gene are only reported in 75% of Cherubism cases. The mutation of the SH3BP2 gene is believed to increase production...
15 KB (1,810 words) - 18:48, 8 February 2024
Q9UJC5 14703 SH3BGRL3 HGNC:15568 Q9H299 14704 SH3BP1 HGNC:10824 Q9Y3L3 14705 SH3BP2 HGNC:10825 P78314 14706 SH3BP4 HGNC:10826 Q9P0V3 14707 SH3BP5 HGNC:10827...
282 KB (17 words) - 07:55, 20 June 2024
SH2B3; SH2D1A; SH2D1B; SH2D2A; SH2D3A; SH2D3C; SH2D4A; SH2D4B; SH2D5; SH2D6; SH3BP2; SHB; SHC1; SHC3; SHC4; SHD; SHE SLA; SLA2 SOCS1; SOCS2; SOCS3; SOCS4; SOCS5;...
13 KB (1,341 words) - 04:09, 6 March 2024
ROCK1, ROCK2, RTKN, SBF1, SBF2, SCAP2, SGEF, SH2B, SH2B1, SH2B2, SH2B3, SH3BP2, SKAP1, SKAP2, SNTA1, SNTB1, SNTB2, SOS1, SOS2, SPATA13, SPNB4, SPTBN1,...
14 KB (1,434 words) - 10:27, 10 September 2024
Cherubism is a rare autosomal dominant condition caused by mutations in the SH3BP2 gene. Patients afflicted have symmetrical enlargement of the jaws, caused...
39 KB (4,357 words) - 01:37, 8 November 2023
214800; SEMA3E Chédiak–Higashi syndrome; 214500; CHS1 Cherubism; 118400; SH3BP2 Chilblain lupus; 610448; TREX1 CHILD syndrome; 308050; NSDHL Chloride diarrhea...
234 KB (18,877 words) - 15:43, 9 May 2024