Descriptions

Tyrosine-protein kinase Lck plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as the signaling for growth arrest and apoptosis downstream of B-cell receptor. It is included in Src family nonreceptor tyrosine kinases. Src kinase family shares a conserved domain structure consisting of consecutive SH3, SH2, tyrosine kinase, and C-terminal tail. Like other kinases in the same family.

Autoinhibitory domains (AIDs)

Target domain

245-498 (Protein kinase domain)

Relief mechanism

PTM

Assay

Structural analysis

Target domain

245-498 (Protein kinase domain)

Relief mechanism

Assay

Structural analysis

Target domain

245-498 (Protein kinase domain)

Relief mechanism

Assay

Structural analysis

Target domain

245-498 (Protein kinase domain)

Relief mechanism

PTM

Assay

Structural analysis

Accessory elements

381-405 (Activation loop from InterPro)

Target domain

245-498 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

58 structures for P06239

Entry ID Method Resolution Chain Position Source
1BHF X-ray 180 A A 119-226 PDB
1BHH X-ray 190 A PDB
1CWD X-ray 225 A L 127-222 PDB
1CWE X-ray 230 A A/C 127-222 PDB
1FBZ X-ray 240 A A/B 123-226 PDB
1H92 NMR - A 59-120 PDB
1IJR X-ray 220 A A 124-226 PDB
1KIK NMR - A 64-120 PDB
1LCJ X-ray 180 A A 119-226 PDB
1LCK X-ray 250 A PDB
1LKK X-ray 100 A A 122-226 PDB
1LKL X-ray 180 A A 123-226 PDB
1Q68 NMR - B 7-35 PDB
1Q69 NMR - B 7-35 PDB
1QPC X-ray 160 A A 231-509 PDB
1QPD X-ray 200 A A 231-509 PDB
1QPE X-ray 200 A A 231-509 PDB
1QPJ X-ray 220 A A 231-509 PDB
1X27 X-ray 270 A A/B/C/D/E/F 64-226 PDB
2IIM X-ray 100 A A 59-119 PDB
2OF2 X-ray 200 A A 231-501 PDB
2OF4 X-ray 270 A A 231-501 PDB
2OFU X-ray 200 A A 229-501 PDB
2OFV X-ray 200 A A/B 232-498 PDB
2OG8 X-ray 230 A A/B 237-499 PDB
2PL0 X-ray 280 A A 225-509 PDB
2ZM1 X-ray 210 A A 225-509 PDB
2ZM4 X-ray 270 A A 225-509 PDB
2ZYB X-ray 255 A A 225-509 PDB
3AC1 X-ray 199 A A 225-509 PDB
3AC2 X-ray 210 A A 225-509 PDB
3AC3 X-ray 255 A A 225-509 PDB
3AC4 X-ray 270 A A 225-509 PDB
3AC5 X-ray 250 A A 225-509 PDB
3AC8 X-ray 230 A A 225-509 PDB
3ACJ X-ray 220 A A 225-509 PDB
3ACK X-ray 260 A A 225-509 PDB
3AD4 X-ray 220 A A 225-509 PDB
3AD5 X-ray 200 A A 225-509 PDB
3AD6 X-ray 215 A A 225-509 PDB
3B2W X-ray 230 A A 226-502 PDB
3BRH X-ray 220 A C/D 391-397 PDB
3BYM X-ray 200 A A 230-501 PDB
3BYO X-ray 200 A A 231-501 PDB
3BYS X-ray 220 A A 225-501 PDB
3BYU X-ray 230 A A 225-501 PDB
3KMM X-ray 280 A A 229-509 PDB
3KXZ X-ray 237 A A 225-509 PDB
3LCK X-ray 170 A A 231-501 PDB
3MPM X-ray 195 A A 237-501 PDB
4C3F X-ray 172 A A 237-501 PDB
4D8K X-ray 236 A A 53-226 PDB
5MTM X-ray 240 A A 118-231 PDB
5MTN X-ray 285 A A 118-231 PDB
6H6A X-ray 200 A E/H/K 2-11 PDB
6PDJ X-ray 181 A A 225-509 PDB
8X2P X-ray 140 A A/B 119-226 PDB
AF-P06239-F1 Predicted AlphaFoldDB

265 variants for P06239

Variant ID(s) Position Change Description Diseaes Association Provenance
CA740992
rs145088108
RCV000547015
45 R>Q Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs147431889
RCV000652175
CA740998
54 S>C Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA339636599
rs1393997550
RCV001213943
72 Y>H Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001048206
rs1640215337
90 I>M Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinVar
dbSNP
RCV001342141
rs1640237880
139 R>missing Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinVar
dbSNP
CA741134
rs539280346
RCV000530648
187 D>N Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
rs11567841
CA741140
RCV000690357
VAR_051697
201 G>S Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs766580359
CA741177
RCV000689981
211 N>I Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1480132008
RCV001042264
218 T>I Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinVar
dbSNP
rs1557585827
RCV000703969
CA339639591
268 T>M Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000692299
CA741220
rs142611772
284 A>G Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs587777335
VAR_071291
RCV000114989
CA151376
341 L>P IMD22 Severe combined immunodeficiency due to LCK deficiency [UniProt, ClinVar] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs1569967422
RCV000991355
377 S>missing Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinVar
dbSNP
RCV001051256
rs1640406042
401 K>* Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinVar
dbSNP
RCV001317326
rs1801124
CA741329
431 T>M Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001335599
rs1569984631
505 Y>C Severe combined immunodeficiency due to LCK deficiency [ClinVar] Yes ClinVar
dbSNP
rs1257794961
CA339633877
5 C>R No ClinGen
gnomAD
CA339633907
rs1486428010
5 C>W No ClinGen
gnomAD
CA740963
rs763977216
8 H>N No ClinGen
ExAC
gnomAD
rs763977216
CA740962
8 H>Y No ClinGen
ExAC
gnomAD
rs111771386
CA740964
9 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA20230157
rs111771386
9 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA740965
rs780185907
14 M>L No ClinGen
ExAC
gnomAD
CA740966
rs751726470
17 I>M No ClinGen
ExAC
gnomAD
CA339634168
rs1422197069
17 I>V No ClinGen
gnomAD
rs755284744
CA740967
18 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA740968
rs77219908
22 N>T No ClinGen
ExAC
gnomAD
CA339634341
rs1360740802
25 Y>H No ClinGen
gnomAD
CA740969
rs748563929
27 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1126766
CA20230216
29 P>R No ClinGen
Ensembl
rs749818114
CA339634420
30 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs749818114
CA740972
30 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA339634434
rs1342708327
31 D>G No ClinGen
gnomAD
rs1218166453
CA339634445
32 G>V No ClinGen
gnomAD
rs770282584
CA740973
34 G>R No ClinGen
ExAC
gnomAD
CA740986
rs755220816
36 L>R No ClinGen
ExAC
gnomAD
rs564082487
CA740987
38 I>N No ClinGen
1000Genomes
ExAC
gnomAD
rs752991931
CA740988
40 N>S No ClinGen
ExAC
gnomAD
rs756491346
CA740989
41 G>S No ClinGen
ExAC
gnomAD
CA339636052
rs1254158000
43 E>G No ClinGen
gnomAD
rs778290248
CA740990
44 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs139649211
CA740991
45 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778252394
CA740993
47 P>A No ClinGen
ExAC
gnomAD
rs999073024
CA20230631
47 P>L No ClinGen
TOPMed
CA740995
rs771590192
48 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA339636114
rs1404547164
51 Y>C No ClinGen
gnomAD
rs1404547164
CA339636112
51 Y>F No ClinGen
gnomAD
CA740996
rs373458731
52 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339636124
rs1443973811
53 G>S No ClinGen
gnomAD
rs540222297
CA740997
54 S>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA339636139
rs1282058272
55 N>K No ClinGen
gnomAD
CA740999
rs776547244
55 N>S No ClinGen
ExAC
gnomAD
rs761633690
CA741000
56 P>L No ClinGen
ExAC
gnomAD
rs568140101
CA741003
58 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs151169932
CA20230675
59 S>T No ClinGen
ESP
CA741005
rs752903747
60 P>L No ClinGen
ExAC
gnomAD
CA339636171
rs1476466097
61 L>R No ClinGen
TOPMed
CA741007
rs764357331
62 Q>E No ClinGen
ExAC
gnomAD
rs780848515
CA741036
63 D>E No ClinGen
ExAC
gnomAD
rs777499240
CA741038
68 A>T No ClinGen
ExAC
gnomAD
CA339636592
rs1435317417
71 S>G No ClinGen
TOPMed
CA741040
rs771045740
71 S>N No ClinGen
ExAC
gnomAD
CA741041
rs775683851
72 Y>C No ClinGen
ExAC
gnomAD
CA339636633
rs1352651866
77 D>N No ClinGen
TOPMed
rs762005602
CA741045
78 G>E No ClinGen
ExAC
gnomAD
rs1227459328
CA339636652
79 D>E No ClinGen
gnomAD
CA741047
rs533969475
82 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA339636687
rs1444115742
84 K>N No ClinGen
TOPMed
CA339636684
rs1301869806
84 K>R No ClinGen
gnomAD
CA339636691
rs1235039920
85 G>A No ClinGen
gnomAD
rs1038465388
CA20231012
85 G>R No ClinGen
TOPMed
gnomAD
rs1351729844
CA339636693
86 E>K No ClinGen
gnomAD
CA339636720
rs1369876947
89 R>H No ClinGen
TOPMed
rs555714485
CA20231022
92 E>G No ClinGen
1000Genomes
CA339636744
rs1231588809
93 Q>R No ClinGen
TOPMed
CA741068
rs142674647
94 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA339636771
rs1448844533
95 G>A No ClinGen
TOPMed
CA20231198
rs377653414
95 G>S No ClinGen
Ensembl
CA20231203
rs911037520
97 W>R No ClinGen
Ensembl
CA20231209
rs201899413
98 W>C No ClinGen
1000Genomes
TOPMed
rs1569952918
CA339636821
102 S>A No ClinGen
Ensembl
rs1421255548
CA339636823
102 S>C No ClinGen
TOPMed
gnomAD
CA20231232
rs1022754875
103 L>M No ClinGen
TOPMed
rs112957416
CA20231237
104 T>I No ClinGen
TOPMed
CA339636862
rs1462475947
106 G>V No ClinGen
gnomAD
CA20231267
COSM1687340
rs867588722
112 P>S skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1429066934
CA339636922
115 F>L No ClinGen
TOPMed
gnomAD
CA741074
rs757043274
119 A>E No ClinGen
ExAC
gnomAD
rs1441550050
CA339636950
119 A>S No ClinGen
TOPMed
gnomAD
CA339636968
rs758314746
121 S>R No ClinGen
ExAC
gnomAD
rs544255095
CA741078
122 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1235129240
CA339636985
124 P>H No ClinGen
gnomAD
rs773364948
CA741081
126 P>L No ClinGen
ExAC
gnomAD
CA741080
rs769883592
126 P>T No ClinGen
ExAC
gnomAD
CA339637103
rs1569953941
131 N>T No ClinGen
Ensembl
CA339637120
rs1368225574
132 L>P No ClinGen
TOPMed
gnomAD
CA339637118
rs1368225574
132 L>Q No ClinGen
TOPMed
gnomAD
rs1368225574
CA339637122
132 L>R No ClinGen
TOPMed
gnomAD
CA20231399
rs866632097
133 S>I No ClinGen
Ensembl
rs1232851236
CA339637143
134 R>H No ClinGen
gnomAD
rs1202578552
CA339637181
137 A>T No ClinGen
gnomAD
CA20231420
rs11576031
138 E>D No ClinGen
1000Genomes
gnomAD
rs772512580
CA741106
139 R>L No ClinGen
ExAC
gnomAD
CA339637211
rs1194587513
139 R>W No ClinGen
gnomAD
CA339637246
rs1193039805
142 L>P No ClinGen
gnomAD
CA20231450
rs868401007
143 A>E No ClinGen
gnomAD
CA339637250
rs1455784984
143 A>T No ClinGen
gnomAD
rs769580260
CA20231453
144 P>S No ClinGen
gnomAD
rs1569954237
CA339637260
145 G>E No ClinGen
Ensembl
CA20231464
rs866092612
145 G>W No ClinGen
Ensembl
CA741108
rs761327722
147 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA20231470
rs1015545475
148 H>L No ClinGen
TOPMed
gnomAD
CA741110
rs763681220
148 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1166552454
CA339637282
149 G>R No ClinGen
TOPMed
rs761524121
CA741111
155 E>D No ClinGen
ExAC
gnomAD
CA339637388
rs1447922580
158 S>G No ClinGen
TOPMed
rs868644258
CA20231498
158 S>N No ClinGen
gnomAD
CA20231500
rs911057675
160 A>V No ClinGen
Ensembl
CA741123
rs772316081
161 G>V No ClinGen
ExAC
gnomAD
rs11576032
CA20231705
168 R>W No ClinGen
Ensembl
rs1392812560
CA339637650
171 D>N No ClinGen
gnomAD
CA741127
rs777308034
173 N>S No ClinGen
ExAC
gnomAD
rs1008745002
CA20231723
174 Q>K No ClinGen
Ensembl
rs761356569
CA741128
176 E>Q No ClinGen
ExAC
gnomAD
rs1297382849
CA339637780
177 V>A No ClinGen
TOPMed
CA741130
rs772673094
177 V>M No ClinGen
ExAC
gnomAD
rs1569955822
CA339637796
178 V>G No ClinGen
Ensembl
rs1323990193
CA339637875
182 K>N No ClinGen
gnomAD
CA339637900
rs1557585028
184 R>C No ClinGen
Ensembl
CA20231739
rs777578035
184 R>H No ClinGen
gnomAD
CA741131
rs762734407
185 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs767406314
CA741135
187 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs752657839
CA741136
188 N>D No ClinGen
ExAC
gnomAD
CA741137
rs757273543
188 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1231351915
CA339637995
189 G>D No ClinGen
TOPMed
CA20231756
rs377122627
189 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377122627
CA741138
189 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1277133571
CA339638011
190 G>D No ClinGen
TOPMed
CA339638136
rs1192340454
197 I>V No ClinGen
TOPMed
gnomAD
rs1211345541
CA339638202
200 P>L No ClinGen
TOPMed
CA339638215
rs1171376431
201 G>D No ClinGen
gnomAD
rs769163098
CA741143
207 R>L No ClinGen
ExAC
gnomAD
rs1453879735
CA339638345
210 T>A No ClinGen
TOPMed
rs751818854
CA741178
214 D>Y No ClinGen
ExAC
gnomAD
CA741180
rs767961556
217 C>R No ClinGen
ExAC
gnomAD
CA339638618
rs1480132008
218 T>K No ClinGen
gnomAD
COSM1213167
rs527608634
CA741182
219 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs559884474
CA339638630
219 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA741183
rs778300098
222 R>C No ClinGen
ExAC
gnomAD
COSM185668
rs749760246
CA741184
222 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs749760246
CA339638675
222 R>L No ClinGen
ExAC
gnomAD
rs778300098
CA339638673
222 R>S No ClinGen
ExAC
gnomAD
CA339638679
rs1406057348
223 P>H No ClinGen
TOPMed
gnomAD
CA339638680
rs1406057348
223 P>L No ClinGen
TOPMed
gnomAD
rs1440485621
CA339638890
234 W>* No ClinGen
TOPMed
rs143147870
CA339638906
235 E>K No ClinGen
ESP
TOPMed
gnomAD
CA20232127
rs143147870
235 E>Q No ClinGen
ESP
TOPMed
gnomAD
CA20232129
rs1044732934
237 E>K No ClinGen
TOPMed
gnomAD
CA339639100
rs778448252
244 T>K No ClinGen
ExAC
gnomAD
rs778448252
CA741186
244 T>M No ClinGen
ExAC
gnomAD
CA20232140
rs905758883
248 V>E No ClinGen
TOPMed
CA741187
rs745493214
250 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA339639194
rs1229934194
250 R>W No ClinGen
gnomAD
CA741190
rs376305813
257 G>R No ClinGen
ESP
ExAC
gnomAD
CA339639520
rs1186207791
260 W>* No ClinGen
gnomAD
CA339639554
rs748878726
263 Y>C No ClinGen
gnomAD
rs748878726
CA20232196
263 Y>F No ClinGen
gnomAD
rs780917159
CA741212
266 G>R No ClinGen
ExAC
gnomAD
rs1221231626
CA339639644
276 K>M No ClinGen
gnomAD
CA339639660
rs1282812339
278 G>D No ClinGen
TOPMed
gnomAD
rs147477953
CA20232214
279 S>N No ClinGen
ESP
CA741216
rs759646706
281 S>F No ClinGen
ExAC
gnomAD
rs1256470189
CA339639678
281 S>P No ClinGen
TOPMed
CA741218
rs772280544
282 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA741217
rs772280544
282 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs966131156
CA20232220
283 D>G No ClinGen
TOPMed
rs142611772
CA741221
284 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1264625812
CA339639756
288 E>D No ClinGen
TOPMed
CA741224
rs750936420
299 R>Q No ClinGen
ExAC
gnomAD
rs779490079
CA741226
301 V>G No ClinGen
ExAC
gnomAD
CA339639944
rs751220552
302 R>G No ClinGen
ExAC
gnomAD
CA339639947
rs1557586013
302 R>Q No ClinGen
Ensembl
rs1323817341
CA339640046
310 E>K No ClinGen
gnomAD
rs1557586065
CA339640116
315 I>V No ClinGen
Ensembl
rs1439083588
CA339640133
316 T>S No ClinGen
gnomAD
rs1293069920
CA339640174
319 M>T No ClinGen
TOPMed
CA741258
rs201830817
325 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1277977631
CA339642249
335 K>T No ClinGen
gnomAD
rs763427890
CA741259
338 I>V No ClinGen
ExAC
gnomAD
rs1258114778
CA339642331
339 N>S No ClinGen
TOPMed
gnomAD
CA741260
rs766746942
342 L>V No ClinGen
ExAC
gnomAD
rs1557588210
CA339642390
345 A>V No ClinGen
Ensembl
rs1569966601
CA339642397
346 A>G No ClinGen
Ensembl
CA741278
rs774660942
353 A>E No ClinGen
ExAC
gnomAD
CA741277
rs771329448
353 A>T No ClinGen
ExAC
CA339642468
rs1241995764
355 I>V No ClinGen
TOPMed
rs1041748687
CA339642490
358 R>G No ClinGen
TOPMed
gnomAD
CA20233521
rs901813678
358 R>Q No ClinGen
TOPMed
gnomAD
rs1041748687
CA20233515
358 R>W No ClinGen
TOPMed
gnomAD
CA20233527
rs997631218
361 I>V No ClinGen
Ensembl
CA741284
rs753549329
366 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA741283
rs763803879
366 R>W No ClinGen
ExAC
gnomAD
CA339642547
rs1367126763
367 A>P No ClinGen
gnomAD
CA741285
rs761460031
370 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs750324825
CA741287
373 S>T No ClinGen
ExAC
gnomAD
CA20233552
rs1050463397
374 D>E No ClinGen
Ensembl
rs781227475
CA741289
376 L>P No ClinGen
ExAC
gnomAD
rs777902230
CA741292
382 D>G No ClinGen
ExAC
gnomAD
COSM1213171
rs1192544657
CA339642676
387 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs771183851
CA741294
390 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs771183851
CA339642693
390 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA741296
rs200647118
393 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs776176152
CA741298
397 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs146452317
CA741297
397 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1308450186
CA339642771
399 G>E No ClinGen
gnomAD
rs1372150829
CA339642813
405 K>R No ClinGen
gnomAD
rs1445804546
CA339642823
406 W>* No ClinGen
gnomAD
CA20233764
rs575320254
409 P>Q No ClinGen
1000Genomes
CA741322
rs762668654
410 E>K No ClinGen
ExAC
gnomAD
rs61781208
CA741323
414 Y>H No ClinGen
ESP
ExAC
gnomAD
rs1410186346
CA339642885
416 T>A No ClinGen
TOPMed
CA741325
rs759533501
416 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA741326
rs764046370
423 V>E No ClinGen
ExAC
gnomAD
CA20233778
rs199976589
428 I>F No ClinGen
1000Genomes
rs758824898
CA741331
434 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA339643009
rs1484267411
435 T>N No ClinGen
TOPMed
rs78401598
CA20233785
435 T>P No ClinGen
Ensembl
rs755594088
CA741334
437 G>S No ClinGen
ExAC
gnomAD
CA741335
rs781572505
438 R>C No ClinGen
ExAC
gnomAD
rs1268526933
CA339643029
438 R>L No ClinGen
TOPMed
CA20233788
rs923301947
439 I>V No ClinGen
Ensembl
rs1318678254
CA339643037
440 P>S No ClinGen
gnomAD
rs368733943
CA741336
442 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA741355
rs781676626
443 G>E No ClinGen
ExAC
gnomAD
CA741357
rs371436737
447 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA741356
rs753155978
447 P>S No ClinGen
ExAC
gnomAD
rs770615175
CA20237162
451 Q>H No ClinGen
ExAC
gnomAD
rs778556583
CA741361
452 N>S No ClinGen
ExAC
gnomAD
rs200540406
CA741364
453 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200540406
CA741362
COSM1502462
453 L>V lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs879033247
CA20237184
455 R>Q No ClinGen
TOPMed
gnomAD
rs905837700
CA20237191
458 R>C No ClinGen
TOPMed
CA339643775
rs1405031975
COSM1667353
458 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
CA339643779
rs1405031975
458 R>L No ClinGen
TOPMed
CA741367
rs773475751
461 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs763148386
CA741368
461 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs751837372
CA741370
464 N>D No ClinGen
ExAC
gnomAD
CA339643850
rs1350462006
464 N>S No ClinGen
gnomAD
CA741372
rs767828400
469 L>M No ClinGen
ExAC
gnomAD
CA741373
rs753244013
474 R>W No ClinGen
ExAC
gnomAD
rs756619132
CA741375
480 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA741374
rs756619132
480 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs183629101
CA741376
480 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA741380
rs771899555
491 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM908293
rs371877562
CA741381
491 R>H endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs371877562
CA339644175
491 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339644171
rs771899555
491 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs746947432
CA741382
492 S>G No ClinGen
ExAC
gnomAD
CA339644196
rs1420050153
493 V>L No ClinGen
TOPMed
CA339644222
rs1163490761
495 E>G No ClinGen
gnomAD
rs1569984631
CA339644320
505 Y>S No ClinGen
Ensembl
CA339644339
rs1557592834
507 P>S No ClinGen
Ensembl
COSM4143805
CA339644359
COSM4143803
rs1370325812
508 Q>H thyroid [Cosmic] No ClinGen
cosmic curated
gnomAD
CA339644367
rs1411051486
509 P>H No ClinGen
gnomAD
rs1411051486
CA339644370
509 P>L No ClinGen
gnomAD

2 associated diseases with P06239

[MIM: 615758]: Immunodeficiency 22 (IMD22)

A primary immunodeficiency characterized by T-cell dysfunction. Affected individuals present with lymphopenia, recurrent infections, severe diarrhea, and failure to thrive. {ECO:0000269|PubMed:22985903}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A primary immunodeficiency characterized by T-cell dysfunction. Affected individuals present with lymphopenia, recurrent infections, severe diarrhea, and failure to thrive. {ECO:0000269|PubMed:22985903}. Note=The disease is caused by variants affecting the gene represented in this entry.

9 regional properties for P06239

Type Name Position InterPro Accession
domain Protein kinase domain 245 - 498 IPR000719
domain SH2 domain 125 - 224 IPR000980
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 245 - 493 IPR001245
domain SH3 domain 61 - 121 IPR001452
active_site Tyrosine-protein kinase, active site 360 - 372 IPR008266
binding_site Protein kinase, ATP binding site 251 - 273 IPR017441
domain Tyrosine-protein kinase, catalytic domain 245 - 494 IPR020635
domain Lck, SH3 domain 65 - 118 IPR035749
domain Tyrosine-protein kinase Lck, SH2 domain 123 - 223 IPR035850

Functions

Description
EC Number 2.7.10.2 Protein-tyrosine kinases
Subcellular Localization
  • Cell membrane ; Lipid-anchor ; Cytoplasmic side
  • Cytoplasm, cytosol
  • Present in lipid rafts in an inactive form
PANTHER Family PTHR24418 TYROSINE-PROTEIN KINASE
PANTHER Subfamily PTHR24418:SF39 TYROSINE-PROTEIN KINASE LCK
PANTHER Protein Class non-receptor tyrosine protein kinase
PANTHER Pathway Category Parkinson disease
Src kinase
T cell activation
Lck

7 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extrinsic component of cytoplasmic side of plasma membrane The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
immunological synapse An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction.
membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
pericentriolar material A network of small fibers that surrounds the centrioles in cells; contains the microtubule nucleating activity of the centrosome.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

19 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATPase binding Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.
CD4 receptor binding Binding to a CD4, a receptor found on the surface of T cells, monocytes and macrophages.
CD8 receptor binding Binding to a CD8, a receptor found on the surface of thymocytes and cytotoxic and suppressor T-lymphocytes.
identical protein binding Binding to an identical protein or proteins.
non-membrane spanning protein tyrosine kinase activity Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein.
phosphatidylinositol 3-kinase binding Binding to a phosphatidylinositol 3-kinase, any enzyme that catalyzes the addition of a phosphate group to an inositol lipid at the 3' position of the inositol ring.
phospholipase activator activity Increases the activity of a phospholipase, an enzyme that catalyzes of the hydrolysis of a glycerophospholipid.
phospholipase binding Binding to a phospholipase.
phosphotyrosine residue binding Binding to a phosphorylated tyrosine residue within a protein.
protein C-terminus binding Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein phosphatase binding Binding to a protein phosphatase.
protein serine/threonine phosphatase activity Catalysis of the reaction: protein serine phosphate + H2O = protein serine + phosphate, and protein threonine phosphate + H2O = protein threonine + phosphate.
protein serine/threonine/tyrosine kinase activity Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
SH2 domain binding Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class.
signaling receptor binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
T cell receptor binding Binding to a T cell receptor, the antigen-recognizing receptor on the surface of T cells.

23 GO annotations of biological process

Name Definition
activation of cysteine-type endopeptidase activity involved in apoptotic process Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.
B cell receptor signaling pathway The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cellular zinc ion homeostasis Any process involved in the maintenance of an internal steady state of zinc ions at the level of a cell.
hemopoiesis The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
leukocyte migration The movement of a leukocyte within or between different tissues and organs of the body.
peptidyl-tyrosine phosphorylation The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
platelet activation A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug.
positive regulation of heterotypic cell-cell adhesion Any process that activates or increases the frequency, rate, or extent of heterotypic cell-cell adhesion.
positive regulation of intrinsic apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of intrinsic apoptotic signaling pathway.
positive regulation of leukocyte cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion.
positive regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation.
positive regulation of T cell receptor signaling pathway Any process that activates or increases the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a T cell.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation.
release of sequestered calcium ion into cytosol The process in which calcium ions sequestered in the endoplasmic reticulum, Golgi apparatus or mitochondria are released into the cytosolic compartment.
response to xenobiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
T cell costimulation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation.
T cell differentiation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex.
T cell receptor signaling pathway The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell.
transmembrane receptor protein tyrosine kinase signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.

90 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A0JNB0 FYN Tyrosine-protein kinase Fyn Bos taurus (Bovine) SS
Q0VBZ0 CSK Tyrosine-protein kinase CSK Bos taurus (Bovine) SS
Q3ZC95 BTK Tyrosine-protein kinase Bos taurus (Bovine) EV SS
P41239 CSK Tyrosine-protein kinase CSK Gallus gallus (Chicken) SS
P00523 SRC Proto-oncogene tyrosine-protein kinase Src Gallus gallus (Chicken) EV
Q02977 YRK Proto-oncogene tyrosine-protein kinase Yrk Gallus gallus (Chicken) SS
Q8JH64 BTK Tyrosine-protein kinase BTK Gallus gallus (Chicken) SS
P09324 YES1 Tyrosine-protein kinase Yes Gallus gallus (Chicken) SS
Q05876 FYN Tyrosine-protein kinase Fyn Gallus gallus (Chicken) SS
Q75R65 JAK2 Tyrosine-protein kinase JAK2 Gallus gallus (Chicken) SS
P42683 LCK Proto-oncogene tyrosine-protein kinase LCK Gallus gallus (Chicken) SS
Q24592 hop Tyrosine-protein kinase hopscotch Drosophila melanogaster (Fruit fly) PR
P08630 Btk Tyrosine-protein kinase Btk Drosophila melanogaster (Fruit fly) SS
Q9V9J3 Src42A Tyrosine-protein kinase Src42A Drosophila melanogaster (Fruit fly) SS
P00528 Src64B Tyrosine-protein kinase Src64B Drosophila melanogaster (Fruit fly) SS
P23458 JAK1 Tyrosine-protein kinase JAK1 Homo sapiens (Human) SS
O60674 JAK2 Tyrosine-protein kinase JAK2 Homo sapiens (Human) EV
P52333 JAK3 Tyrosine-protein kinase JAK3 Homo sapiens (Human) SS
P29597 TYK2 Non-receptor tyrosine-protein kinase TYK2 Homo sapiens (Human) EV
P43405 SYK Tyrosine-protein kinase SYK Homo sapiens (Human) EV
P43403 ZAP70 Tyrosine-protein kinase ZAP-70 Homo sapiens (Human) EV
Q13882 PTK6 Protein-tyrosine kinase 6 Homo sapiens (Human) EV
P09769 FGR Tyrosine-protein kinase Fgr Homo sapiens (Human) SS
P07948 LYN Tyrosine-protein kinase Lyn Homo sapiens (Human) SS
P06241 FYN Tyrosine-protein kinase Fyn Homo sapiens (Human) SS
P12931 SRC Proto-oncogene tyrosine-protein kinase Src Homo sapiens (Human) EV
P51451 BLK Tyrosine-protein kinase Blk Homo sapiens (Human) SS
P08631 HCK Tyrosine-protein kinase HCK Homo sapiens (Human) EV
P07947 YES1 Tyrosine-protein kinase Yes Homo sapiens (Human) SS
P42685 FRK Tyrosine-protein kinase FRK Homo sapiens (Human) EV
Q08881 ITK Tyrosine-protein kinase ITK/TSK Homo sapiens (Human) EV
Q06187 BTK Tyrosine-protein kinase BTK Homo sapiens (Human) EV
P51813 BMX Cytoplasmic tyrosine-protein kinase BMX Homo sapiens (Human) SS
P42680 TEC Tyrosine-protein kinase Tec Homo sapiens (Human) SS
P42679 MATK Megakaryocyte-associated tyrosine-protein kinase Homo sapiens (Human) SS
P41240 CSK Tyrosine-protein kinase CSK Homo sapiens (Human) SS
Q14289 PTK2B Protein-tyrosine kinase 2-beta Homo sapiens (Human) PR
Q05397 PTK2 Focal adhesion kinase 1 Homo sapiens (Human) EV
Q13470 TNK1 Non-receptor tyrosine-protein kinase TNK1 Homo sapiens (Human) PR
Q07912 TNK2 Activated CDC42 kinase 1 Homo sapiens (Human) EV
P16591 FER Tyrosine-protein kinase Fer Homo sapiens (Human) PR
Q6J9G0 STYK1 Tyrosine-protein kinase STYK1 Homo sapiens (Human) PR
P42684 ABL2 Tyrosine-protein kinase ABL2 Homo sapiens (Human) SS
P00519 ABL1 Tyrosine-protein kinase ABL1 Homo sapiens (Human) EV
Q9R117 Tyk2 Non-receptor tyrosine-protein kinase TYK2 Mus musculus (Mouse) SS
P08103 Hck Tyrosine-protein kinase HCK Mus musculus (Mouse) SS
P16277 Blk Tyrosine-protein kinase Blk Mus musculus (Mouse) SS
Q62270 Srms Tyrosine-protein kinase Srms Mus musculus (Mouse) SS
Q64434 Ptk6 Protein-tyrosine kinase 6 Mus musculus (Mouse) SS
P05480 Src Proto-oncogene tyrosine-protein kinase Src Mus musculus (Mouse) EV
P14234 Fgr Tyrosine-protein kinase Fgr Mus musculus (Mouse) SS
P35991 Btk Tyrosine-protein kinase BTK Mus musculus (Mouse) EV
P41241 Csk Tyrosine-protein kinase CSK Mus musculus (Mouse) EV
P25911 Lyn Tyrosine-protein kinase Lyn Mus musculus (Mouse) EV
Q62137 Jak3 Tyrosine-protein kinase JAK3 Mus musculus (Mouse) SS
Q62120 Jak2 Tyrosine-protein kinase JAK2 Mus musculus (Mouse) EV
P24604 Tec Tyrosine-protein kinase Tec Mus musculus (Mouse) SS
Q04736 Yes1 Tyrosine-protein kinase Yes Mus musculus (Mouse) SS
P39688 Fyn Tyrosine-protein kinase Fyn Mus musculus (Mouse) SS
P52332 Jak1 Tyrosine-protein kinase JAK1 Mus musculus (Mouse) SS
Q03526 Itk Tyrosine-protein kinase ITK/TSK Mus musculus (Mouse) SS
P41242 Matk Megakaryocyte-associated tyrosine-protein kinase Mus musculus (Mouse) SS
Q922K9 Frk Tyrosine-protein kinase FRK Mus musculus (Mouse) SS
P06240 Lck Proto-oncogene tyrosine-protein kinase LCK Mus musculus (Mouse) SS
A1Y2K1 FYN Tyrosine-protein kinase Fyn Sus scrofa (Pig) SS
O19064 JAK2 Tyrosine-protein kinase JAK2 Sus scrofa (Pig) SS
Q62662 Frk Tyrosine-protein kinase FRK Rattus norvegicus (Rat) SS
Q62844 Fyn Tyrosine-protein kinase Fyn Rattus norvegicus (Rat) SS
Q07014 Lyn Tyrosine-protein kinase Lyn Rattus norvegicus (Rat) SS
P50545 Hck Tyrosine-protein kinase HCK Rattus norvegicus (Rat) SS
Q9WUD9 Src Proto-oncogene tyrosine-protein kinase Src Rattus norvegicus (Rat) SS
Q6P6U0 Fgr Tyrosine-protein kinase Fgr Rattus norvegicus (Rat) SS
Q62689 Jak2 Tyrosine-protein kinase JAK2 Rattus norvegicus (Rat) SS
Q63272 Jak3 Tyrosine-protein kinase JAK3 Rattus norvegicus (Rat) SS
P32577 Csk Tyrosine-protein kinase CSK Rattus norvegicus (Rat) SS
P41243 Matk Megakaryocyte-associated tyrosine-protein kinase Rattus norvegicus (Rat) SS
F1LM93 Yes1 Tyrosine-protein kinase Yes Rattus norvegicus (Rat) SS
Q01621 Lck Proto-oncogene tyrosine-protein kinase LCK Rattus norvegicus (Rat) SS
G5ECJ6 csk-1 Tyrosine-protein kinase csk-1 Caenorhabditis elegans SS
O45539 src-2 Tyrosine protein-kinase src-2 Caenorhabditis elegans SS
G5EE56 src-1 Tyrosine protein-kinase src-1 Caenorhabditis elegans SS
F4JTP5 STY46 Serine/threonine-protein kinase STY46 Arabidopsis thaliana (Mouse-ear cress) PR
O22558 STY8 Serine/threonine-protein kinase STY8 Arabidopsis thaliana (Mouse-ear cress) PR
Q2MHE4 HT1 Serine/threonine/tyrosine-protein kinase HT1 Arabidopsis thaliana (Mouse-ear cress) PR
Q8RWL6 STY17 Serine/threonine-protein kinase STY17 Arabidopsis thaliana (Mouse-ear cress) PR
A1A5H8 yes1 Tyrosine-protein kinase yes Danio rerio (Zebrafish) (Brachydanio rerio) SS
F1RDG9 fynb Tyrosine-protein kinase fynb Danio rerio (Zebrafish) (Brachydanio rerio) SS
O12990 jak1 Tyrosine-protein kinase JAK1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q1JPZ3 src Proto-oncogene tyrosine-protein kinase Src Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q6EWH2 fyna Tyrosine-protein kinase fyna Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MGCGCSSHPE DDWMENIDVC ENCHYPIVPL DGKGTLLIRN GSEVRDPLVT YEGSNPPASP
70 80 90 100 110 120
LQDNLVIALH SYEPSHDGDL GFEKGEQLRI LEQSGEWWKA QSLTTGQEGF IPFNFVAKAN
130 140 150 160 170 180
SLEPEPWFFK NLSRKDAERQ LLAPGNTHGS FLIRESESTA GSFSLSVRDF DQNQGEVVKH
190 200 210 220 230 240
YKIRNLDNGG FYISPRITFP GLHELVRHYT NASDGLCTRL SRPCQTQKPQ KPWWEDEWEV
250 260 270 280 290 300
PRETLKLVER LGAGQFGEVW MGYYNGHTKV AVKSLKQGSM SPDAFLAEAN LMKQLQHQRL
310 320 330 340 350 360
VRLYAVVTQE PIYIITEYME NGSLVDFLKT PSGIKLTINK LLDMAAQIAE GMAFIEERNY
370 380 390 400 410 420
IHRDLRAANI LVSDTLSCKI ADFGLARLIE DNEYTAREGA KFPIKWTAPE AINYGTFTIK
430 440 450 460 470 480
SDVWSFGILL TEIVTHGRIP YPGMTNPEVI QNLERGYRMV RPDNCPEELY QLMRLCWKER
490 500
PEDRPTFDYL RSVLEDFFTA TEGQYQPQP