PTK2B
protein tyrosine kinase 2 beta
Summary
This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants57 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28834970 | 8:27,195,121 | T/C | intron variant | — |
| rs6987305 | 8:27,208,126 | G/C | — | — |
| rs2322599 | 8:27,211,910 | G/A | intron variant | — |
| rs73223431 | 8:27,219,987 | C/T | regulatory region variant | — |
| rs12679874 | 8:27,230,819 | A/G | intron variant | — |
| rs1290235746 | 8:27,255,109 | G/A | — | uncertain significance |
| rs145156050 | 8:27,255,151 | G/A | — | uncertain significance |
| rs372930124 | 8:27,255,153 | C/T | — | uncertain significance |
| rs771540159 | 8:27,255,163 | G/C | — | uncertain significance |
| rs2488772991 | 8:27,255,166 | C/T | — | uncertain significance |
| rs1808140080 | 8:27,255,178 | T/C | — | uncertain significance |
| rs772033077 | 8:27,277,564 | G/A | — | likely benign |
| rs752698808 | 8:27,277,574 | G/A | — | uncertain significance |
| rs768558812 | 8:27,279,843 | G/A | — | conflicting classifications of pathogenicity |
| rs112665817 | 8:27,279,881 | C/T | — | benign |
| rs11991368 | 8:27,279,883 | G/A | — | benign |
| rs145177380 | 8:27,287,661 | C/A | — | uncertain significance |
| rs758362822 | 8:27,288,478 | A/G | — | uncertain significance |
| rs150448766 | 8:27,288,495 | G/A | — | uncertain significance |
| rs61738530 | 8:27,288,514 | C/A | — | likely benign |
| rs1388266716 | 8:27,289,799 | A/C | — | uncertain significance |
| rs139089526 | 8:27,289,868 | G/T | — | uncertain significance |
| rs56175011 | 8:27,291,039 | C/G | — | likely benign |
| rs370030419 | 8:27,291,621 | C/T | — | uncertain significance |
| rs199551006 | 8:27,292,044 | G/A | — | uncertain significance |
| rs201276254 | 8:27,292,053 | A/G | — | uncertain significance |
| rs150760494 | 8:27,293,299 | G/A | — | uncertain significance |
| rs55853846 | 8:27,293,306 | C/T | — | benign |
| rs778098175 | 8:27,293,307 | G/A | — | uncertain significance |
| rs1239273029 | 8:27,294,958 | G/T | — | uncertain significance |
| rs2489700810 | 8:27,295,292 | A/G | — | uncertain significance |
| rs369029128 | 8:27,295,353 | A/G | — | uncertain significance |
| rs151100763 | 8:27,295,385 | A/G | — | uncertain significance |
| rs141042486 | 8:27,295,390 | G/A | — | uncertain significance |
| rs2489770820 | 8:27,296,594 | A/G | — | uncertain significance |
| rs1687422916 | 8:27,296,843 | C/G | — | uncertain significance |
| rs768354498 | 8:27,296,889 | C/T | — | uncertain significance |
| rs762219267 | 8:27,296,891 | A/G | — | uncertain significance |
| rs116416838 | 8:27,297,745 | A/G | — | benign |
| rs754472545 | 8:27,297,756 | G/A | — | uncertain significance |
| rs1586333011 | 8:27,297,826 | G/C | — | uncertain significance |
| rs755668710 | 8:27,297,913 | A/G | — | uncertain significance |
| rs776111566 | 8:27,300,411 | A/C | — | uncertain significance |
| rs766774117 | 8:27,300,430 | A/G | — | uncertain significance |
| rs761266768 | 8:27,300,475 | C/T | — | uncertain significance |
| rs772765943 | 8:27,301,745 | C/A | — | uncertain significance |
| rs200782817 | 8:27,303,435 | G/A | — | uncertain significance |
| rs2490197883 | 8:27,308,309 | A/G | — | uncertain significance |
| rs1811755374 | 8:27,308,325 | A/C | — | uncertain significance |
| rs371375403 | 8:27,308,346 | C/G | — | uncertain significance |
| rs41276293 | 8:27,309,026 | C/T | — | likely benign |
| rs765481842 | 8:27,310,676 | A/G | — | uncertain significance |
| rs1811997824 | 8:27,311,722 | A/G | — | uncertain significance |
| rs148098986 | 8:27,311,723 | A/G | — | uncertain significance |
| rs56046263 | 8:27,312,113 | A/G | — | likely benign |
| rs565067064 | 8:27,315,902 | G/A | — | uncertain significance |
| rs981205835 | 8:27,316,022 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.