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 Q96BS2

Entry ID Method Resolution Chain Position Source
AF-Q96BS2-F1 Predicted AlphaFoldDB

189 variants for Q96BS2

Variant ID(s) Position Change Description Diseaes Association Provenance
CA6813672
rs763955929
4 A>S No ClinGen
ExAC
gnomAD
rs1330388595
CA386880400
5 H>P No ClinGen
TOPMed
CA386880382
rs1402687997
6 S>F No ClinGen
gnomAD
rs1447697894
CA386880391
6 S>P No ClinGen
gnomAD
rs1461691193
CA386880363
7 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA386880350
rs1210089651
9 E>Q No ClinGen
TOPMed
rs1350794264
CA386880336
10 E>K No ClinGen
gnomAD
rs1167359824
CA386880324
10 E>V No ClinGen
gnomAD
rs1200612898
CA386880296
13 E>* No ClinGen
TOPMed
CA386880292
rs1385222105
13 E>G No ClinGen
gnomAD
rs1182443044
CA386880286
14 L>I No ClinGen
gnomAD
CA244220252
rs889156996
16 G>D No ClinGen
TOPMed
gnomAD
CA386880255
rs889156996
16 G>V No ClinGen
TOPMed
gnomAD
CA244220223
rs933243321
20 F>L No ClinGen
Ensembl
rs1402332568
CA386877957
21 S>P No ClinGen
gnomAD
CA6813659
rs562957217
22 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386877939
rs1322642294
23 D>N No ClinGen
TOPMed
CA386877923
rs1377820502
24 Q>* No ClinGen
gnomAD
rs1178083519
CA386877912
25 I>V No ClinGen
gnomAD
rs758078242
CA6813656
26 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 26 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1194135731
CA386877866
29 H>Y No ClinGen
gnomAD
CA6813655
rs139715331
30 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1448650121
CA386877852
30 R>W No ClinGen
gnomAD
TCGA novel 32 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386877808
rs1204603201
34 Q>* No ClinGen
gnomAD
rs150871128
CA6813654
34 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA244199293
rs964985742
34 Q>R No ClinGen
TOPMed
gnomAD
TCGA novel 37 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1358732920
CA386877737
40 P>S No ClinGen
TOPMed
rs756764036
CA6813653
43 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6813652
rs753793791
43 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA386877705
rs753793791
43 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1361475410
CA386886398
44 K>E No ClinGen
gnomAD
CA386886381
rs1205476641
45 E>Q No ClinGen
TOPMed
CA6813633
rs756125659
48 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs752740344
CA6813632
49 N>S No ClinGen
ExAC
gnomAD
CA386886286
rs1481983565
51 P>R No ClinGen
TOPMed
CA386886267
rs1565963233
52 D>E No ClinGen
Ensembl
rs1489436586
CA386886247
54 E>V No ClinGen
TOPMed
CA386886219
rs1565963223
56 N>K No ClinGen
Ensembl
rs1593000979
CA386886225
56 N>T No ClinGen
Ensembl
rs1593000968
CA386886196
58 I>T No ClinGen
Ensembl
CA386886203
rs1238888743
58 I>V No ClinGen
gnomAD
CA244231808
rs772915105
59 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs772915105
CA386886190
59 R>G No ClinGen
gnomAD
rs759291720
CA6813630
60 S>F No ClinGen
ExAC
gnomAD
CA6813629
rs751766984
64 R>C Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386886132
rs751766984
64 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs762965516
CA6813627
64 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762965516
CA6813628
64 R>L No ClinGen
ExAC
gnomAD
rs984324209
CA244231800
65 A>D No ClinGen
Ensembl
TCGA novel 67 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1243111559
CA386886076
68 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA386886074
rs1243111559
68 D>Y No ClinGen
TOPMed
gnomAD
rs769031004 69 N>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs777050049
CA6813623
69 N>I No ClinGen
ExAC
gnomAD
CA386886047
rs1307838890
70 R>T No ClinGen
TOPMed
CA6813602
rs201966544
73 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6813601
rs761040708
73 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386885172
rs761040708
73 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs772630732
CA6813599
75 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386885135
rs1282977807
76 P>A No ClinGen
TOPMed
gnomAD
CA6813598
rs748927568
76 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA386885132
rs748927568
76 P>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 76 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386885125
rs1379302890
77 S>N No ClinGen
TOPMed
rs373277209
CA6813597
81 D>E No ClinGen
1000Genomes
ExAC
gnomAD
CA6813594
rs148314787
83 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386885045
rs1397237846
83 I>T No ClinGen
TOPMed
rs374122867
CA6813590
86 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6813591
rs374122867
86 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201789594
CA244226701
92 M>T No ClinGen
TOPMed
CA6813586
rs530406783
92 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs753875219
CA6813584
94 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs761081800
CA6813582
95 F>V No ClinGen
ExAC
gnomAD
CA6813580
rs143285421
96 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6813581
rs776122247
96 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 97 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772952061
CA6813578
98 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6813576
rs138273556
99 D>N Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs899479719
CA386884925
102 M>L No ClinGen
Ensembl
CA244226631
rs1040734474
102 M>T No ClinGen
Ensembl
rs899479719
CA244226636
102 M>V No ClinGen
Ensembl
rs746893667
CA386884912
103 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA244226628
rs936468673
103 D>G No ClinGen
TOPMed
rs925126653
CA244226622
104 E>D No ClinGen
TOPMed
rs780004006
CA6813572
104 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs868535508
CA244226621
105 E>K No ClinGen
Ensembl
TCGA novel 105 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386884888
rs1257675529
107 V>M No ClinGen
gnomAD
CA386884884
rs1315809414
108 E>K No ClinGen
gnomAD
CA244226615
rs867618785
110 S>F No ClinGen
Ensembl
CA6813570
rs745683243
111 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs370536389
CA6813567
115 L>V No ClinGen
ESP
TOPMed
gnomAD
CA386884830
rs1356571074
116 R>K No ClinGen
TOPMed
gnomAD
TCGA novel 118 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1374801232
CA386884284
120 H>Y No ClinGen
gnomAD
CA386884271
rs1456360728
121 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1286637130
CA386884273
121 M>T No ClinGen
TOPMed
gnomAD
rs1406415180
CA386884264
122 Y>C No ClinGen
gnomAD
CA244224899
rs984014236
123 D>E No ClinGen
TOPMed
gnomAD
CA386884257
rs1376870774
123 D>G No ClinGen
gnomAD
CA6813534
rs147019006
123 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386884252
rs1430269462
124 S>A No ClinGen
gnomAD
rs200823726
CA244224894
124 S>L No ClinGen
gnomAD
CA6813532
rs531621385
126 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA244224867
rs1034267173
126 S>N No ClinGen
TOPMed
gnomAD
rs749129728
CA6813530
127 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs979997799
CA244224849
129 R>C No ClinGen
TOPMed
gnomAD
CA386884212
rs1294729983
129 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA386884190
rs1406341196
132 L>V No ClinGen
gnomAD
CA6813527
rs748445499
133 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA386884155
rs867356353
136 R>* No ClinGen
gnomAD
rs867356353
CA386884156
136 R>G No ClinGen
gnomAD
CA386884154
rs1401185009
136 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs555980740
CA6813506
138 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1307209643
CA386884109
139 V>I No ClinGen
gnomAD
CA6813504
rs780369862
140 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1408826705
CA386884073
144 S>L No ClinGen
gnomAD
rs1592992900
CA386884063
146 N>T No ClinGen
Ensembl
rs1444915306
CA386884057
147 P>A No ClinGen
TOPMed
rs1468827483
CA386884050
148 H>Y No ClinGen
gnomAD
CA386884044
rs1200661508
149 I>V No ClinGen
gnomAD
TCGA novel 150 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1267460547
CA386884036
150 E>K No ClinGen
TOPMed
gnomAD
rs1450476499
CA386884012
153 S>P No ClinGen
TOPMed
gnomAD
rs150127766
CA386884006
154 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6813500
rs150127766
154 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1326703975
CA386884005
154 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1037089879
CA244224672
155 R>C No ClinGen
TOPMed
gnomAD
rs1419833739
CA386884000
155 R>H No ClinGen
TOPMed
gnomAD
CA386883987
rs1347309919
157 I>T No ClinGen
gnomAD
CA386883980
rs1345822964
158 A>G No ClinGen
gnomAD
rs1435681467
CA386883984
158 A>T No ClinGen
gnomAD
rs767179467
CA6813498
159 D>N No ClinGen
ExAC
gnomAD
CA386883971
rs1478846854
160 G>R No ClinGen
gnomAD
CA386883955
rs1177594526
162 M>T No ClinGen
gnomAD
CA386883958
rs1477285323
162 M>V No ClinGen
TOPMed
rs1592992763
CA386883946
163 M>R No ClinGen
Ensembl
rs754426994
CA6813497
164 E>D No ClinGen
ExAC
gnomAD
CA6813496
rs751083650
165 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA386883928
rs1592992739
166 A>P No ClinGen
Ensembl
rs1467667160
CA386883921
167 S>C No ClinGen
TOPMed
rs116635547
RCV000947497
CA6813495
168 V>M No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA244224621
rs915869036
170 M>T No ClinGen
gnomAD
rs1217367624
CA386883900
170 M>V No ClinGen
gnomAD
rs1487427305
CA386883892
171 G>W No ClinGen
gnomAD
CA386883888
rs1303040219
172 Q>* No ClinGen
TOPMed
CA244224584
rs1022242256
173 M>I No ClinGen
TOPMed
gnomAD
rs993052189
CA244224599
173 M>L No ClinGen
Ensembl
CA6813478
rs779591817
174 E>K No ClinGen
ExAC
gnomAD
CA6813477
rs190403622
175 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs915745893
CA244220796
176 D>G No ClinGen
Ensembl
rs1248353515
CA386882901
176 D>H No ClinGen
gnomAD
CA386882885
rs1320131082
177 Q>* No ClinGen
gnomAD
CA386882881
rs1320131082
177 Q>K No ClinGen
gnomAD
CA6813476
rs750330523
177 Q>R No ClinGen
ExAC
CA386882870
rs1167073338
178 V>M No ClinGen
gnomAD
rs761646501
CA244220789
180 E>* No ClinGen
ExAC
gnomAD
rs761646501
CA6813474
180 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1409728508
CA386882819
181 G>E No ClinGen
gnomAD
TCGA novel 182 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 182 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386882811
rs1366777444
182 I>V No ClinGen
gnomAD
CA6813473
rs553226423
183 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386882770
rs1163546143
185 E>K No ClinGen
gnomAD
CA6813471
rs760939477
186 D>V No ClinGen
ExAC
gnomAD
TCGA novel 187 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775624203
CA6813470
188 L>P No ClinGen
ExAC
gnomAD
CA386882719
rs1482687257
189 K>E No ClinGen
gnomAD
rs1475002035
CA386881820
190 I>T No ClinGen
TOPMed
gnomAD
rs1456410191
CA386881813
191 W>G No ClinGen
gnomAD
CA386881810
rs1456410191
191 W>R No ClinGen
gnomAD
rs1174154937
CA386881778
193 G>E No ClinGen
gnomAD
CA6813449
rs774410585
193 G>R No ClinGen
ExAC
gnomAD
CA6813446
rs773745110
195 D>G No ClinGen
ExAC
gnomAD
CA6813447
rs763426115
195 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA386881722
rs1592986158
198 T>P No ClinGen
Ensembl
CA386881678
rs1483634632
201 H>Y No ClinGen
gnomAD
rs748479607
CA6813444
202 V>I No ClinGen
ExAC
gnomAD
rs779702836
CA6813443
203 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386881649
rs1199135761
203 R>H No ClinGen
gnomAD
CA386881629
rs1252348326
205 L>F No ClinGen
gnomAD
rs369376430
CA6813441
207 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1592986104
CA386881574
209 T>P No ClinGen
Ensembl
CA6813440
rs547087823
211 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1278670181
CA386881500
214 H>Q No ClinGen
TOPMed
rs911443927
CA244218427
214 H>R No ClinGen
TOPMed
gnomAD

No associated diseases with Q96BS2

No regional properties for Q96BS2

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q96BS2

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Membrane ; Lipid-anchor
  • Cell membrane
  • Cell projection, lamellipodium
  • Cell projection, ruffle membrane
  • Colocalizes with SLC9A1 at the plasma membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
ruffle Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.
ruffle membrane The portion of the plasma membrane surrounding a ruffle.

5 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).
magnesium ion binding Binding to a magnesium (Mg) ion.
phosphatase inhibitor activity Binds to and stops, prevents or reduces the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule.
protein homodimerization activity Binding to an identical protein to form a homodimer.
protein kinase inhibitor activity Binds to and stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein.

14 GO annotations of biological process

Name Definition
cellular response to retinoic acid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus.
male gonad development The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure.
megakaryocyte differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
positive regulation of DNA-templated transcription Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of granulocyte differentiation Any process that activates or increases the frequency, rate or extent of granulocyte differentiation.
positive regulation of megakaryocyte differentiation Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation.
positive regulation of sodium:proton antiporter activity Any process that activates or increases the activity of a sodium:hydrogen antiporter, which catalyzes the reaction: Na+(out) + H+(in) = Na+(in) + H+(out).
protein localization to plasma membrane A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
protein maturation Any process leading to the attainment of the full functional capacity of a protein.
protein stabilization Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of cell adhesion mediated by integrin Any process that modulates the frequency, rate, or extent of cell adhesion mediated by integrin.

10 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P63099 PPP3R1 Calcineurin subunit B type 1 Bos taurus (Bovine) PR
A0AVX7 TESC Calcineurin B homologous protein 3 Gallus gallus (Chicken) PR
P63098 PPP3R1 Calcineurin subunit B type 1 Homo sapiens (Human) PR
Q96LZ3 PPP3R2 Calcineurin subunit B type 2 Homo sapiens (Human) PR
Q63810 Ppp3r1 Calcineurin subunit B type 1 Mus musculus (Mouse) PR
Q9JKL5 Tesc Calcineurin B homologous protein 3 Mus musculus (Mouse) PR
P28470 Ppp3r2 Calcineurin subunit B type 2 Rattus norvegicus (Rat) PR
P63100 Ppp3r1 Calcineurin subunit B type 1 Rattus norvegicus (Rat) PR
Q75KU4 CBL4 Calcineurin B-like protein 4 Oryza sativa subsp japonica (Rice) PR
Q7XC27 CBL1 Calcineurin B-like protein 1 Oryza sativa subsp japonica (Rice) PR
10 20 30 40 50 60
MGAAHSASEE VRELEGKTGF SSDQIEQLHR RFKQLSGDQP TIRKENFNNV PDLELNPIRS
70 80 90 100 110 120
KIVRAFFDNR NLRKGPSGLA DEINFEDFLT IMSYFRPIDT TMDEEQVELS RKEKLRFLFH
130 140 150 160 170 180
MYDSDSDGRI TLEEYRNVVE ELLSGNPHIE KESARSIADG AMMEAASVCM GQMEPDQVYE
190 200 210
GITFEDFLKI WQGIDIETKM HVRFLNMETM ALCH