Blnk Gene Search Result

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3 records found for search term Blnk

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1347273	BLNK	B cell linker	This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine resid ... (more) ues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]	10	96189171	96271569	Human	243	symbol , COSMIC , Human Proteome Map , old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
1606407	SH2D6	SH2 domain containing 6	Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway and intracellular signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]	2	85418714	85437029	Human	26	old_gene_name	gene, protein-coding, VALIDATED [RefSeq]
1605010	CLNK	cytokine dependent hematopoietic cell linker	MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 ... (more) (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]	4	10486395	10734846	Human	43	description	gene, protein-coding, VALIDATED [RefSeq]