Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9BZA8

Entry ID Method Resolution Chain Position Source
AF-Q9BZA8-F1 Predicted AlphaFoldDB

380 variants for Q9BZA8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA414954016
rs1602851969
3 R>S No ClinGen
Ensembl
CA10571533
rs781152552
5 G>V No ClinGen
ExAC
gnomAD
CA337502083
rs867305712
25 R>W No ClinGen
Ensembl
CA414954188
rs1278026708
30 N>K No ClinGen
gnomAD
rs756126492
CA10571536
32 H>D No ClinGen
ExAC
gnomAD
CA10571538
rs749789947
41 I>V No ClinGen
ExAC
gnomAD
rs769011963
CA10571539
42 F>Y No ClinGen
ExAC
gnomAD
CA337502089
rs2249187
47 V>A No ClinGen
gnomAD
rs779188703
CA10571540
49 V>L No ClinGen
ExAC
gnomAD
CA10571541
rs747775858
50 V>M No ClinGen
ExAC
CA414954379
rs1422706138
59 N>S No ClinGen
gnomAD
rs772705513
CA10571543
65 E>Q No ClinGen
ExAC
gnomAD
rs207480113
CA337502095
66 I>M No ClinGen
Ensembl
CA337502098
rs868334222
67 P>S No ClinGen
Ensembl
CA337502100
rs2571796
74 N>D No ClinGen
gnomAD
CA414954476
rs2571796
74 N>H No ClinGen
gnomAD
CA337502105
rs2571795
92 T>A No ClinGen
Ensembl
rs770555410
CA10571547
93 M>T No ClinGen
ExAC
gnomAD
CA10571548
rs776780188
97 L>P No ClinGen
ExAC
gnomAD
CA414954653
rs1221244806
99 Y>* No ClinGen
gnomAD
rs759482842
CA10571549
100 K>Q No ClinGen
ExAC
gnomAD
rs752489845
CA10571551
116 I>T No ClinGen
ExAC
gnomAD
CA10571552
rs373429121
117 F>Y No ClinGen
ESP
ExAC
gnomAD
rs767822284
CA10571553
120 G>S No ClinGen
ExAC
gnomAD
CA414954802
rs1216926602
122 R>L No ClinGen
gnomAD
CA414954804
rs1261961646
123 I>V No ClinGen
gnomAD
TCGA novel 127 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10571555
rs756252078
131 G>A No ClinGen
ExAC
rs750596391
CA10571554
131 G>R No ClinGen
ExAC
gnomAD
TCGA novel 135 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1192645978
CA414954929
140 Y>C No ClinGen
gnomAD
rs780040928
CA10571556
143 E>D No ClinGen
ExAC
gnomAD
rs1171655083
CA414954986
149 D>N No ClinGen
gnomAD
rs748582670
CA10571561
166 D>N No ClinGen
ExAC
gnomAD
CA10571563
rs777544651
172 P>L No ClinGen
ExAC
gnomAD
CA414955153
rs777544651
172 P>R No ClinGen
ExAC
gnomAD
rs1367319732
CA414955201
180 I>V No ClinGen
gnomAD
rs1439393064
CA414955241
186 I>L No ClinGen
gnomAD
TCGA novel 187 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202086948
CA10571564
189 K>I No ClinGen
ExAC
gnomAD
CA414955262
rs1569474573
189 K>Q No ClinGen
Ensembl
CA414955292
rs1602852661
193 P>Q No ClinGen
Ensembl
CA414955300
rs1240173339
194 A>V No ClinGen
gnomAD
rs370631990
CA10571567
205 V>D No ClinGen
ESP
ExAC
gnomAD
CA10571568
rs769816259
209 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 211 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760827367
CA10571574
222 I>T No ClinGen
ExAC
gnomAD
CA414956038
rs1602863212
224 T>A No ClinGen
Ensembl
rs1178022109
CA414956190
245 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs755015554
CA10571577
253 V>A No ClinGen
ExAC
TCGA novel 260 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765817926
CA10571578
260 Q>P No ClinGen
ExAC
gnomAD
CA10571580
rs758868258
265 A>G No ClinGen
ExAC
gnomAD
rs201490303
CA10571579
265 A>T No ClinGen
ESP
ExAC
gnomAD
CA10571582
rs746675404
266 I>F No ClinGen
ExAC
rs780882132
CA10571584
285 E>K No ClinGen
ExAC
gnomAD
CA10571585
rs745411676
286 I>T No ClinGen
ExAC
gnomAD
rs1378218762
CA414956831
293 N>D No ClinGen
gnomAD
rs201957141
CA10571587
304 H>Y No ClinGen
ESP
ExAC
gnomAD
CA414957040
rs1370506227
308 A>S No ClinGen
gnomAD
rs1229714165
CA414957078
311 G>S No ClinGen
gnomAD
TCGA novel 316 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749112314
CA10571588
319 S>F No ClinGen
ExAC
gnomAD
CA10571589
rs768508512
325 S>F No ClinGen
ExAC
gnomAD
rs1259918313
CA414957291
330 R>K No ClinGen
gnomAD
CA414957324
rs1602863571
332 F>L No ClinGen
Ensembl
rs1180982255
CA414957436
342 T>S No ClinGen
gnomAD
TCGA novel 344 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414957486
rs1231293993
346 P>S No ClinGen
gnomAD
rs1182686257
CA414957667
361 A>T No ClinGen
gnomAD
rs760915477
CA10571591
373 V>L No ClinGen
ExAC
rs1413272628
CA414957897
377 V>A No ClinGen
gnomAD
CA10571592
rs766625672
381 N>S No ClinGen
ExAC
gnomAD
rs759666441
CA414958055
CA10571594
389 I>L No ClinGen
ExAC
gnomAD
CA10571595
rs778372208
390 R>* No ClinGen
ExAC
gnomAD
TCGA novel 390 R>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765232225
CA10571596
392 I>V No ClinGen
ExAC
gnomAD
rs758776814
CA10571598
393 V>I No ClinGen
ExAC
gnomAD
rs764544799
CA10571599
394 N>S No ClinGen
ExAC
gnomAD
CA10571600
rs751934946
401 V>I No ClinGen
ExAC
rs757666483
CA10571601
403 S>* No ClinGen
ExAC
gnomAD
rs1602863808
CA414958368
411 K>N No ClinGen
Ensembl
rs1279920773
CA414958378
413 A>T No ClinGen
gnomAD
rs755654865
CA10571604
428 V>G No ClinGen
ExAC
rs1444214000
CA414958640
432 T>A No ClinGen
gnomAD
rs1602863909
CA414958646
432 T>K No ClinGen
Ensembl
rs1256898167
CA414958690
435 E>G No ClinGen
gnomAD
CA337503040
rs867756034
435 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA414958727
rs1569475012
438 F>L No ClinGen
Ensembl
CA414958851
rs1484848517
447 Q>R No ClinGen
gnomAD
rs749268165
CA10571606
452 N>K No ClinGen
ExAC
rs2571660
CA337503045
452 N>T No ClinGen
Ensembl
CA414959011
rs1196091876
458 Y>C No ClinGen
gnomAD
CA10571607
rs768434937
462 K>E No ClinGen
ExAC
gnomAD
CA10571608
rs778787676
465 A>D No ClinGen
ExAC
gnomAD
rs1427794755
CA414959209
472 D>H No ClinGen
gnomAD
CA10571609
rs747982418
472 D>V No ClinGen
ExAC
gnomAD
CA10571610
rs771837252
473 A>P No ClinGen
ExAC
gnomAD
CA10571611
rs776908802
476 P>L No ClinGen
ExAC
gnomAD
CA414959271
rs1299610972
478 L>V No ClinGen
gnomAD
rs1340922304
CA414959331
485 F>L No ClinGen
gnomAD
rs1226347352
CA414959349
487 K>R No ClinGen
gnomAD
CA414959403
rs1347127161
494 N>S No ClinGen
gnomAD
rs1279770436
CA414959419
497 V>I No ClinGen
gnomAD
rs769933520
CA10571613
501 S>F No ClinGen
ExAC
gnomAD
CA414959448
rs1484715941
501 S>P No ClinGen
gnomAD
rs1264107759
CA414959454
502 F>V No ClinGen
gnomAD
rs1446796106
CA414959460
503 V>I No ClinGen
gnomAD
TCGA novel 508 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1602864239
CA414959527
513 P>T No ClinGen
Ensembl
CA10571614
rs775386613
515 I>S No ClinGen
ExAC
gnomAD
CA337503060
rs2241625
518 M>T No ClinGen
Ensembl
TCGA novel 521 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1600193
CA10571615
rs207480126
COSM1600192
COSM1600194
523 T>M central_nervous_system [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA10571616
rs371326440
524 D>N No ClinGen
ESP
ExAC
gnomAD
CA414959627
rs1569475042
527 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs2241627
CA337503068
532 E>K No ClinGen
Ensembl
CA414959765
rs1160101032
548 D>Y No ClinGen
gnomAD
CA10571620
rs750113181
COSM236285
549 R>C Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA414959773
rs1381302441
549 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM301584
COSM301585
CA10571621
rs755672059
550 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1332586249
CA414959782
551 T>A No ClinGen
gnomAD
rs779644175
CA10571622
552 G>C No ClinGen
ExAC
gnomAD
COSM1470053
rs754486741
COSM1470055
COSM1470054
CA10571624
557 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA414959856
rs1287011561
562 R>T No ClinGen
gnomAD
CA10571626
rs748070080
573 L>V No ClinGen
ExAC
gnomAD
TCGA novel 576 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414959972
rs1602864564
578 G>E No ClinGen
Ensembl
TCGA novel 578 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777490540
CA10571628
581 P>H No ClinGen
ExAC
CA10571627
COSM1261080
COSM1261081
COSM1261079
rs200566765
581 P>S oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA414959996
rs1602864596
582 L>F No ClinGen
Ensembl
CA414960002
rs1317126389
583 T>S No ClinGen
Ensembl
CA414960005
rs1602864614
584 S>G No ClinGen
Ensembl
rs1193584512
CA414960013
585 N>D No ClinGen
gnomAD
CA10571629
rs746127874
585 N>S No ClinGen
ExAC
gnomAD
CA414960031
rs1180044543
588 V>I No ClinGen
gnomAD
rs769870383
CA10571630
589 F>V No ClinGen
ExAC
gnomAD
rs775752256
CA10571631
592 I>M No ClinGen
ExAC
rs372001722
CA10571632
596 N>D No ClinGen
ESP
ExAC
gnomAD
rs1392662027
CA414960106
598 N>S No ClinGen
gnomAD
CA10571633
rs768767519
605 N>H No ClinGen
ExAC
gnomAD
rs775065846
CA10571634
607 Y>* No ClinGen
ExAC
gnomAD
TCGA novel 614 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414960226
rs1602864759
615 L>I No ClinGen
Ensembl
CA10571635
rs762351664
618 H>R No ClinGen
ExAC
gnomAD
TCGA novel 619 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1310150440
CA414960373
637 V>A No ClinGen
gnomAD
rs773670079
CA10571637
638 T>M No ClinGen
ExAC
gnomAD
CA10571638
rs761067048
641 I>V No ClinGen
ExAC
gnomAD
CA414960413
rs1213389420
643 D>E No ClinGen
gnomAD
rs765993869
CA10571639
644 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs377084479
CA10571640
649 T>I No ClinGen
ESP
ExAC
gnomAD
rs377084479
CA414960457
649 T>N No ClinGen
ESP
ExAC
gnomAD
rs1250670403
CA414960464
650 I>M No ClinGen
gnomAD
rs1199799132
CA414960462
650 I>T No ClinGen
gnomAD
TCGA novel 652 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754509948
CA10571641
654 T>I No ClinGen
ExAC
gnomAD
CA10571642
rs764664548
658 R>* No ClinGen
ExAC
gnomAD
CA414960512
rs1602864903
658 R>Q No ClinGen
Ensembl
TCGA novel 659 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 659 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752649697
CA10571643
666 E>G No ClinGen
ExAC
gnomAD
TCGA novel 667 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758285370
CA10571644
669 E>V No ClinGen
ExAC
gnomAD
CA10571645
rs369443665
671 Y>* No ClinGen
ESP
ExAC
gnomAD
CA414960649
rs1602864965
677 A>V No ClinGen
Ensembl
rs746821807
CA10571646
685 R>C No ClinGen
ExAC
gnomAD
CA10571647
rs757055521
685 R>H No ClinGen
ExAC
gnomAD
rs1602865018
CA414960742
692 T>A No ClinGen
Ensembl
rs1315116136
CA414960775
697 D>Y No ClinGen
gnomAD
CA10571649
rs780199773
706 I>T No ClinGen
ExAC
gnomAD
CA337503108
rs2571661
710 Y>S No ClinGen
Ensembl
rs2571662
CA337503110
712 Y>C No ClinGen
Ensembl
CA10571650
rs749522575
713 S>F No ClinGen
ExAC
rs1320414740
CA414960908
716 L>V No ClinGen
gnomAD
CA414960917
rs768870367
717 V>A No ClinGen
ExAC
gnomAD
CA10571651
rs768870367
717 V>G No ClinGen
ExAC
gnomAD
rs1251200101
CA414960929
719 P>L No ClinGen
gnomAD
CA414960959
rs1602865174
724 G>A No ClinGen
Ensembl
COSM1261075
COSM1261074
rs774524146
COSM1261073
CA10571652
724 G>S oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1193497830
CA414960983
728 F>S No ClinGen
gnomAD
CA414960981
rs1602865185
728 F>V No ClinGen
Ensembl
CA10571653
rs748694745
733 V>I No ClinGen
ExAC
gnomAD
CA414961031
rs1485826153
735 N>S No ClinGen
gnomAD
CA10571654
rs772744865
736 D>N No ClinGen
ExAC
gnomAD
CA10571656
rs761000230
741 A>S No ClinGen
ExAC
gnomAD
CA10571657
rs766757527
741 A>V No ClinGen
ExAC
gnomAD
rs776149147
CA10571658
744 R>H No ClinGen
ExAC
gnomAD
rs1460402327
CA414961112
747 I>F No ClinGen
gnomAD
rs759174224
CA10571659
750 G>R No ClinGen
ExAC
gnomAD
CA414961148
rs1376124331
753 R>G No ClinGen
gnomAD
CA10571660
rs764753768
759 D>N No ClinGen
ExAC
gnomAD
rs1342803168
CA414961233
765 I>V No ClinGen
gnomAD
rs1383068917
CA414961254
768 M>L No ClinGen
gnomAD
CA414961256
rs1295500563
768 M>T No ClinGen
gnomAD
rs372914232
CA337503123
771 C>Y No ClinGen
ESP
rs377204563
CA10571662
772 D>H No ClinGen
ESP
ExAC
gnomAD
rs368952613
CA337503128
781 V>A No ClinGen
ESP
gnomAD
rs764069213
CA10571664
782 L>V No ClinGen
ExAC
CA414961423
rs1347927843
792 D>G No ClinGen
gnomAD
rs1254897331
CA414961455
797 V>I No ClinGen
gnomAD
rs757066666
CA10571666
802 L>P No ClinGen
ExAC
gnomAD
rs780974994
CA10571667
804 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA337503136
rs866699978
808 V>M No ClinGen
Ensembl
rs1260762536
CA414961553
812 T>A No ClinGen
gnomAD
rs749494291
CA10571668
819 R>C No ClinGen
ExAC
gnomAD
rs755210662
CA10571669
819 R>H No ClinGen
ExAC
gnomAD
TCGA novel 822 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337503140
rs2563385
822 I>T No ClinGen
gnomAD
rs779244713
CA10571671
824 A>E No ClinGen
ExAC
gnomAD
rs779244713
CA10571670
824 A>V No ClinGen
ExAC
gnomAD
CA10571672
rs372659005
825 P>S No ClinGen
ESP
ExAC
gnomAD
rs1362615240
CA414961665
829 N>S No ClinGen
gnomAD
rs762111549
CA337503143
832 I>R No ClinGen
Ensembl
rs1602865628
CA414961723
834 D>G No ClinGen
Ensembl
TCGA novel 836 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414961765
rs1288712873
838 P>R No ClinGen
gnomAD
rs747479131
CA10571674
840 S>R No ClinGen
ExAC
gnomAD
rs771216796
CA414961834
845 I>F No ClinGen
ExAC
gnomAD
CA10571675
rs771216796
845 I>V No ClinGen
ExAC
gnomAD
TCGA novel 847 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777010130
CA10571676
857 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA414962081
rs1277569799
868 C>S No ClinGen
gnomAD
rs759220794
CA10571677
868 C>Y No ClinGen
ExAC
gnomAD
rs769480066
CA10571678
869 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1216039809
CA645293559
869 R>K No ClinGen
gnomAD
TCGA novel 872 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10571680
rs775103258
879 K>E No ClinGen
ExAC
gnomAD
rs376916316
CA337503151
880 N>S No ClinGen
ESP
rs2563386
CA337503154
881 M>K No ClinGen
gnomAD
CA414962227
rs2563386
881 M>T No ClinGen
gnomAD
CA414962326
rs1158616608
889 P>S No ClinGen
gnomAD
rs762509994
CA10571682
898 M>I No ClinGen
ExAC
gnomAD
rs1394479806
CA414962457
899 M>I No ClinGen
gnomAD
rs1327179545
CA414962454
899 M>R No ClinGen
gnomAD
CA10571683
rs763655871
900 K>E No ClinGen
ExAC
gnomAD
rs751456442
CA10571686
906 K>N No ClinGen
ExAC
gnomAD
rs761760020
CA10571687
907 K>Q No ClinGen
ExAC
gnomAD
rs1314927241
CA414962619
913 L>R No ClinGen
gnomAD
COSM4157079
COSM4157078
CA10571688
rs2524543
COSM4157080
VAR_026020
917 V>F thyroid [Cosmic] No ClinGen
cosmic curated
UniProt
ESP
ExAC
dbSNP
gnomAD
CA414962682
rs1273572110
920 I>V No ClinGen
gnomAD
rs750270974
CA10571689
925 A>G No ClinGen
ExAC
gnomAD
CA10571692
rs779332853
939 L>P No ClinGen
ExAC
gnomAD
rs752961095
CA10571693
942 D>E No ClinGen
ExAC
gnomAD
rs1300585489
CA414962980
946 Q>* No ClinGen
Ensembl
rs758552174
CA10571694
948 M>I No ClinGen
ExAC
gnomAD
TCGA novel 951 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777849106
CA10571695
953 W>* No ClinGen
ExAC
gnomAD
CA414963180
rs1394178948
962 P>S No ClinGen
gnomAD
CA10571696
rs747496544
964 S>N No ClinGen
ExAC
gnomAD
CA414963213
rs1333909407
964 S>R No ClinGen
gnomAD
CA10571698
rs781523293
967 L>F No ClinGen
ExAC
rs771433686
CA10571697
967 L>V No ClinGen
ExAC
gnomAD
CA10571699
rs746283870
969 R>* No ClinGen
ExAC
gnomAD
rs770132559
CA10571700
969 R>Q No ClinGen
ExAC
gnomAD
rs775193001
CA10571701
970 H>D No ClinGen
ExAC
TCGA novel 970 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs2563388
CA337503184
990 L>S No ClinGen
Ensembl
rs376314007
CA10571704
994 I>V No ClinGen
ESP
ExAC
CA10571706
rs767538246
995 I>S No ClinGen
ExAC
gnomAD
rs761198190
CA10571705
995 I>V No ClinGen
ExAC
gnomAD
rs1274966953
CA414963653
1001 D>Y No ClinGen
gnomAD
rs1438478907
CA414963684
1003 T>I No ClinGen
gnomAD
CA10571709
rs766205365
1007 C>R No ClinGen
ExAC
gnomAD
rs752977527
CA10571710
1008 D>H No ClinGen
ExAC
rs752977527
CA414963735
1008 D>Y No ClinGen
ExAC
VAR_026021
COSM4157082
CA414963786
CA10571711
COSM4157081
rs2563389
COSM4157083
1012 N>K thyroid [Cosmic] No ClinGen
cosmic curated
UniProt
ESP
ExAC
dbSNP
gnomAD
rs757264790
CA10571714
1017 S>N No ClinGen
ExAC
gnomAD
rs1417635661
CA414963920
1023 V>I No ClinGen
gnomAD
CA10571715
rs781752707
1024 S>A No ClinGen
ExAC
gnomAD
CA414964012
rs1602866471
1032 T>A No ClinGen
Ensembl
rs1173475816
CA414964015
1032 T>N No ClinGen
gnomAD
CA10571717
rs201977303
1034 E>K No ClinGen
ExAC
rs780339860
CA10571718
1036 P>S No ClinGen
ExAC
gnomAD
rs768395208
CA10571720
1039 V>I No ClinGen
ExAC
gnomAD
CA414955453
rs1159898618
1046 R>Q No ClinGen
gnomAD
CA10571746
rs746977780
1047 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA414955456
rs746977780
1047 R>G No ClinGen
ExAC
gnomAD
CA414955457
rs1399840801
1047 R>H No ClinGen
gnomAD
TCGA novel 1048 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414955471
rs1316141252
1049 T>I No ClinGen
gnomAD
rs1396691150
CA414955488
1052 L>M No ClinGen
gnomAD
rs1441531917
CA414955495
1053 P>S No ClinGen
gnomAD
rs776692386
CA10571748
1055 G>R No ClinGen
ExAC
gnomAD
TCGA novel 1058 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759438309
CA10571749
1060 S>G No ClinGen
ExAC
gnomAD
CA414955609
rs1280306230
1064 G>E No ClinGen
gnomAD
TCGA novel 1068 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414955674
rs1450347891
1069 D>G No ClinGen
Ensembl
CA414955681
rs1602934947
1070 A>E No ClinGen
Ensembl
rs774637851
CA10571751
1074 T>A No ClinGen
ExAC
gnomAD
CA414955718
rs1275438352
1076 T>P No ClinGen
gnomAD
CA10571752
rs761885262
1077 S>T No ClinGen
ExAC
gnomAD
rs1602934980
CA414955741
1079 G>V No ClinGen
Ensembl
TCGA novel 1083 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10571754
rs767608687
1083 G>R No ClinGen
ExAC
gnomAD
TCGA novel 1092 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1095 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371397593
CA10571756
1097 N>K No ClinGen
ESP
ExAC
gnomAD
CA10571757
rs766930088
1098 R>C No ClinGen
ExAC
gnomAD
CA414955867
rs1156751110
1098 R>L No ClinGen
gnomAD
rs754295442
CA10571758
1099 T>A No ClinGen
ExAC
gnomAD
CA414955878
rs1602935036
1100 E>A No ClinGen
Ensembl
rs755370692
CA10571759
1102 D>N No ClinGen
ExAC
gnomAD
rs779084631
CA10571760
1103 G>S No ClinGen
ExAC
gnomAD
rs765662498
CA10571777
1133 T>I No ClinGen
ExAC
gnomAD
TCGA novel 1140 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414956566
rs1253804760
1142 S>A No ClinGen
gnomAD
rs758816598
CA10571779
1144 A>T No ClinGen
ExAC
gnomAD
CA10571780
rs374229187
1148 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA414956654
rs1193771397
1148 P>S No ClinGen
gnomAD
TCGA novel 1148 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414956669
rs1372600954
1149 A>E No ClinGen
gnomAD
CA10571781
rs751256349
1153 H>N No ClinGen
ExAC
gnomAD
CA414956779
rs1376363463
1157 S>L No ClinGen
gnomAD
CA414956786
rs1434323989
1158 Q>* No ClinGen
gnomAD
TCGA novel 1161 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10571782
rs756832924
1161 A>V No ClinGen
ExAC
gnomAD
rs1383304899
CA414956844
1162 S>C No ClinGen
gnomAD
rs780510634
CA10571783
1163 A>S No ClinGen
ExAC
gnomAD
CA414956864
rs1363850208
1164 L>P No ClinGen
gnomAD
CA10571784
rs745841942
1168 P>L No ClinGen
ExAC
gnomAD
CA337515074
rs367547237
1173 A>T No ClinGen
ESP
gnomAD
CA10571785
rs769579808
1180 P>S No ClinGen
ExAC
gnomAD
rs2556894
CA337515077
1181 P>R No ClinGen
Ensembl
CA10571786
rs780017505
1185 T>S No ClinGen
ExAC
gnomAD
CA337515081
rs2556895
1187 V>A No ClinGen
Ensembl
CA10571788
rs768435179
1192 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA10571789
rs199767661
1195 T>I No ClinGen
ESP
ExAC
gnomAD
TCGA novel 1196 Q>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10571790
rs760825325
1199 A>S No ClinGen
ExAC
gnomAD
rs760825325
CA414957367
1199 A>T No ClinGen
ExAC
gnomAD
rs1395740065
CA414957403
1201 C>Y No ClinGen
gnomAD
rs1454027425
CA414957461
1205 P>T No ClinGen
gnomAD
rs771015976
CA10571791
1206 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 1209 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753237850
CA10571795
1218 L>P No ClinGen
ExAC
gnomAD
rs765716174
CA10571794
1218 L>V No ClinGen
ExAC
gnomAD
CA337515092
rs2556896
1221 G>A No ClinGen
Ensembl
CA10571797
rs375235360
1222 T>S No ClinGen
ESP
ExAC
gnomAD
TCGA novel
rs1602965803
CA414957778
1227 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA10571798
rs201940734
1230 S>L No ClinGen
ESP
ExAC
gnomAD
CA10571799
rs756921050
1232 Q>E No ClinGen
ExAC
gnomAD
CA414957851
rs1239585069
1233 A>D No ClinGen
gnomAD
CA414957846
rs1318507922
1233 A>S No ClinGen
gnomAD
TCGA novel 1233 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1240 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1267243110
CA414958007
1245 A>V No ClinGen
gnomAD
rs2556897
CA337515097
1253 S>P No ClinGen
gnomAD
CA414958112
rs2556897
1253 S>T No ClinGen
gnomAD
rs780787247
CA10571800
1256 Q>R No ClinGen
ExAC
gnomAD
CA10571802
rs372335537
1258 I>V No ClinGen
ESP
ExAC
gnomAD
CA10571803
rs779920141
1259 A>V No ClinGen
ExAC
gnomAD
CA414958212
rs1410358495
1262 R>C No ClinGen
gnomAD
rs376999125
CA10571804
1262 R>H No ClinGen
ESP
ExAC
gnomAD
TCGA novel
CA414958259
rs1602965857
1265 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs368730595
CA10571805
1274 G>S No ClinGen
ESP
ExAC
gnomAD
rs778627882
CA10571806
1274 G>V No ClinGen
ExAC
gnomAD
CA414958431
rs1463511882
1277 Q>P No ClinGen
gnomAD
CA337515107
rs2556898
1280 N>D No ClinGen
Ensembl
CA414958475
rs1327117136
1281 G>V No ClinGen
gnomAD
CA10571807
rs747258549
1289 V>G No ClinGen
ExAC
gnomAD
rs771096096
CA10571808
1291 G>D No ClinGen
ExAC
rs1435044148
CA414958700
1298 Y>H No ClinGen
gnomAD
rs776893661
CA10571809
1302 E>K No ClinGen
ExAC
gnomAD
TCGA novel 1306 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745996008
CA10571810
1308 D>G No ClinGen
ExAC
gnomAD
CA414958950
rs1223968831
1315 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs2556900
CA337515116
VAR_048576
1320 A>T No ClinGen
UniProt
Ensembl
dbSNP
CA10571811
rs769917102
1320 A>V No ClinGen
ExAC
gnomAD
rs199821889
CA10571812
1322 R>C No ClinGen
ESP
ExAC
gnomAD
TCGA novel 1330 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414959208
rs1602965936
1336 E>* No ClinGen
Ensembl
CA337515121
rs2556901
1337 T>A No ClinGen
Ensembl
rs36102892
CA337515123
1337 T>E No ClinGen
Ensembl
CA337515125
rs2556902
1337 T>K No ClinGen
Ensembl
CA10571815
rs774818522
1338 H>Y No ClinGen
ExAC
gnomAD
CA337515128
rs867576825
1339 P>L No ClinGen
Ensembl
TCGA novel 1340 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

1 associated diseases with Q9BZA8

Without disease ID

12 regional properties for Q9BZA8

Type Name Position InterPro Accession
domain Cadherin-like 58 - 171 IPR002126-1
domain Cadherin-like 172 - 281 IPR002126-2
domain Cadherin-like 282 - 387 IPR002126-3
domain Cadherin-like 394 - 498 IPR002126-4
domain Cadherin-like 498 - 705 IPR002126-5
domain Cadherin-like 717 - 827 IPR002126-6
domain Cadherin, N-terminal 59 - 144 IPR013164
domain Protocadherin 807 - 1028 IPR013585
conserved_site Cadherin conserved site 269 - 279 IPR020894-1
conserved_site Cadherin conserved site 486 - 496 IPR020894-2
conserved_site Cadherin conserved site 590 - 600 IPR020894-3
conserved_site Cadherin conserved site 693 - 703 IPR020894-4

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
sperm head The part of the late spermatid or spermatozoon that contains the nucleus and acrosome.
sperm midpiece The highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece.

1 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).

4 GO annotations of biological process

Name Definition
cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
homophilic cell adhesion via plasma membrane adhesion molecules The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.
positive regulation of Wnt signaling pathway Any process that activates or increases the frequency, rate or extent of Wnt signal transduction.
spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q08174 PCDH1 Protocadherin-1 Homo sapiens (Human) PR
Q9HC56 PCDH9 Protocadherin-9 Homo sapiens (Human) PR
Q9P2E7 PCDH10 Protocadherin-10 Homo sapiens (Human) PR
Q9Y5H8 PCDHA3 Protocadherin alpha-3 Homo sapiens (Human) PR
Q9UN75 PCDHA12 Protocadherin alpha-12 Homo sapiens (Human) PR
Q9Y5I2 PCDHA10 Protocadherin alpha-10 Homo sapiens (Human) PR
Q9UN72 PCDHA7 Protocadherin alpha-7 Homo sapiens (Human) PR
Q9UN74 PCDHA4 Protocadherin alpha-4 Homo sapiens (Human) PR
Q9Y5I1 PCDHA11 Protocadherin alpha-11 Homo sapiens (Human) PR
Q9Y5H7 PCDHA5 Protocadherin alpha-5 Homo sapiens (Human) PR
Q9UN73 PCDHA6 Protocadherin alpha-6 Homo sapiens (Human) PR
Q9Y5H6 PCDHA8 Protocadherin alpha-8 Homo sapiens (Human) PR
Q9Y5I3 PCDHA1 Protocadherin alpha-1 Homo sapiens (Human) PR
Q9Y5H9 PCDHA2 Protocadherin alpha-2 Homo sapiens (Human) PR
Q9Y5H3 PCDHGA10 Protocadherin gamma-A10 Homo sapiens (Human) PR
O60330 PCDHGA12 Protocadherin gamma-A12 Homo sapiens (Human) PR
Q9Y5G4 PCDHGA9 Protocadherin gamma-A9 Homo sapiens (Human) PR
Q9Y5G0 PCDHGB5 Protocadherin gamma-B5 Homo sapiens (Human) PR
Q9Y5E3 PCDHB6 Protocadherin beta-6 Homo sapiens (Human) PR
Q9Y5F1 PCDHB12 Protocadherin beta-12 Homo sapiens (Human) PR
10 20 30 40 50 60
MFRVGFLIIS SSSSLSPLLL VSVVRVNTTN CHKCLLSGTY IFAVLLVCVV FHSGAQEKNY
70 80 90 100 110 120
TIREEIPENV LIGNLLKDLN LSLIPNKSLT TTMQFKLVYK TGDVPLIRIE EDTGEIFTTG
130 140 150 160 170 180
ARIDREKLCA GIPRDEHCFY EVEVAILPDE IFRLVKIRFL IEDINDNAPL FPATVINISI
190 200 210 220 230 240
PENSAINSKY TLPAAVDPDV GINGVQNYEL IKSQNIFGLD VIETPEGDKM PQLIVQKELD
250 260 270 280 290 300
REEKDTYVMK VKVEDGGFPQ RSSTAILQVS VTDTNDNHPV FKETEIEVSI PENAPVGTSV
310 320 330 340 350 360
TQLHATDADI GENAKIHFSF SNLVSNIARR LFHLNATTGL ITIKEPLDRE ETPNHKLLVL
370 380 390 400 410 420
ASDGGLMPAR AMVLVNVTDV NDNVPSIDIR YIVNPVNDTV VLSENIPLNT KIALITVTDK
430 440 450 460 470 480
DADHNGRVTC FTDHEIPFRL RPVFSNQFLL ENAAYLDYES TKEYAIKLLA ADAGKPPLNQ
490 500 510 520 530 540
SAMLFIKVKD ENDNAPVFTQ SFVTVSIPEN NSPGIQLMKV SATDADSGPN AEINYLLGPD
550 560 570 580 590 600
APPEFSLDRR TGMLTVVKKL DREKEDKYLF TILAKDNGVP PLTSNVTVFV SIIDQNDNSP
610 620 630 640 650 660
VFTHNEYKFY VPENLPRHGT VGLITVTDPD YGDNSAVTLS ILDENDDFTI DSQTGVIRPN
670 680 690 700 710 720
ISFDREKQES YTFYVKAEDG GRVSRSSSAK VTINVVDVND NKPVFIVPPY NYSYELVLPS
730 740 750 760 770 780
TNPGTVVFQV IAVDNDTGMN AEVRYSIVGG NTRDLFAIDQ ETGNITLMEK CDVTDLGLHR
790 800 810 820 830 840
VLVKANDLGQ PDSLFSVVIV NLFVNESVTN ATLINELVRK SIEAPVTPNT EIADVSSPTS
850 860 870 880 890 900
DYVKILVAAV AGTITVVVVI FITAVVRCRQ APHLKAAQKN MQNSEWATPN PENRQMIMMK
910 920 930 940 950 960
KKKKKKKHSP KNLLLNVVTI EETKADDVDS DGNRVTLDLP IDLEEQTMGK YNWVTTPTTF
970 980 990 1000 1010 1020
KPDSPDLARH YKSASPQPAF QIQPETPLNL KHHIIQELPL DNTFVACDSI SNCSSSSSDP
1030 1040 1050 1060 1070 1080
YSVSDCGYPV TTFEVPVSVH TRPSQRRVTF HLPEGSQESS SDGGLGDHDA GSLTSTSHGL
1090 1100 1110 1120 1130 1140
PLGYPQEEYF DRATPSNRTE GDGNSDPEST FIPGLKKEIT VQPTVEEASD NCTQECLIYG
1150 1160 1170 1180 1190 1200
HSDACWMPAS LDHSSSSQAQ ASALCHSPPL SQASTQHHSP PVTQTIVLCH SPPVTQTIAL
1210 1220 1230 1240 1250 1260
CHSPPPIQVS ALHHSPPLVQ GTALHHSPPS AQASALCYSP PLAQAAAISH SSSLPQVIAL
1270 1280 1290 1300 1310 1320
HRSQAQSSVS LQQGWVQGAN GLCSVDQGVQ GSATSQFYTM SERLHPSDDS IKVIPLTTFA
1330
PRQQARPSRG DSPIMETHPL