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

2 structures for P62070

Entry ID Method Resolution Chain Position Source
2ERY X-ray 170 A A/B 12-181 PDB
AF-P62070-F1 Predicted AlphaFoldDB

122 variants for P62070

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1591495776
RCV000852395
22 G>missing Noonan syndrome [ClinVar] Yes ClinVar
dbSNP
CA379862795
RCV000852396
rs1591495779
VAR_083149
23 G>V Noonan syndrome NS12; increased MAPK signaling [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000852399
RCV001265738
rs1591495767
RCV003117554
RCV000853184
24 G>missing Noonan syndrome Noonan syndrome 12 Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
VAR_083150 24 G>GGGG NS12; increased MAPK signaling [UniProt] Yes UniProt
VAR_083151 26 G>GGVG NS12; increased MAPK signaling; results in craniofacial patterning defects when expressed in zebrafish [UniProt] Yes UniProt
rs782457908
RCV000853183
COSM3719717
CA5894328
RCV000852397
VAR_083152
70 A>T Variant assessed as Somatic; 0.0 impact. Noonan syndrome Noonan syndrome 12 haematopoietic_and_lymphoid_tissue NS12; decreased GAP-stimulated GTPase activity leading to an accumulation of RRAS2 in its GTP-bound active state; increased MAPK signaling; loss of interaction with RASSF5 [NCI-TCGA, ClinVar, Cosmic, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
dbSNP
gnomAD
VAR_083153 72 Q>H NS12; associated in cis with C-75; increased MAPK signaling; results in craniofacial patterning defects when expressed in zebrafish; results in craniofacial patterning defects in zebrafish when associated with C-75 [UniProt] Yes UniProt
CA120437
COSM687135
rs113954997
VAR_006848
RCV000852398
RCV000010054
RCV001072115
72 Q>L lung Noonan syndrome Noonan syndrome 12 Variant assessed as Somatic; impact. endometrium Neoplasm of ovary NS12; also found as somatic mutation in ovarian cancer; increased MAPK signaling; results in craniofacial patterning defects when expressed in zebrafish [Cosmic, ClinVar, NCI-TCGA, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
TCGA novel 3 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782151181
CA5894417
5 G>R No ClinGen
ExAC
gnomAD
rs1439228169
CA379862911
7 R>Q No ClinGen
TOPMed
gnomAD
CA5894416
rs781902160
10 S>F No ClinGen
ExAC
gnomAD
CA379862882
rs1174339583
11 G>S No ClinGen
TOPMed
CA379862830
rs1554955854
18 V>L No ClinGen
gnomAD
CA379862819
rs1554955852
19 V>G No ClinGen
Ensembl
CA379862824
rs1554955853
19 V>M No ClinGen
gnomAD
CA379862814
rs1554955851
20 V>G No ClinGen
Ensembl
rs1554955849
CA379862805
22 G>R No ClinGen
gnomAD
rs1554955845
CA379862780
26 G>S No ClinGen
gnomAD
rs1591495759
CA379862749
31 T>S No ClinGen
Ensembl
CA379862738
rs1396949099
32 I>M No ClinGen
TOPMed
rs1554955843
CA379862732
33 Q>L No ClinGen
gnomAD
rs1448641952
CA379862721
35 I>L No ClinGen
TOPMed
CA379862717
rs1328938728
35 I>T No ClinGen
TOPMed
CA5894356
rs782273898
40 V>L No ClinGen
ExAC
gnomAD
rs782670869
CA5894355
41 T>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 44 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs913808099
CA218175411
45 P>L No ClinGen
Ensembl
rs1372841871
CA379860882
48 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 56 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379860819
rs1554946506
57 I>V No ClinGen
gnomAD
CA5894354
rs552513136
60 R>K No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 60 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 62 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782597266
CA5894352
63 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs782597266
CA379860777
63 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs782189872
CA5894353
63 R>W No ClinGen
ExAC
gnomAD
rs782481088
CA5894351
64 L>P No ClinGen
ExAC
gnomAD
CA379860670
rs1160017680
71 G>E No ClinGen
TOPMed
TCGA novel 72 Q>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs113954997
CA218175344
72 Q>R No ClinGen
Ensembl
TCGA novel 74 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_083154 75 F>C likely benign variant; associated in cis with H-72 in a patient with Noonan syndrome; has no effect on MAPK signaling; has no effect on craniofacial patterning when expressed in zebrafish; results in craniofacial patterning defects in zebrafish when associated with H-72 [UniProt] No UniProt
CA218175342
rs1009231474
75 F>L No ClinGen
Ensembl
CA218175341
rs202147465
77 A>G No ClinGen
Ensembl
rs1554946344
CA379860571
78 M>L No ClinGen
gnomAD
rs782611291
CA5894326
85 T>S No ClinGen
ExAC
gnomAD
CA379860446
rs1554946338
86 G>D No ClinGen
gnomAD
rs1554946335
CA379860441
87 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs141697442
CA5894324
88 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1554946329
CA379860391
91 L>M No ClinGen
gnomAD
rs782166268
CA5894322
92 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 93 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 94 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379860337
rs1306675531
95 V>I No ClinGen
TOPMed
rs1352874625
CA379860309
97 D>G No ClinGen
TOPMed
rs1554946327
CA379860316
97 D>N No ClinGen
gnomAD
TCGA novel 98 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA218175338
rs944526520
99 G>R No ClinGen
gnomAD
rs1554946299
CA379860231
102 E>Q No ClinGen
gnomAD
rs1246077414
CA379860222
103 E>G No ClinGen
TOPMed
CA5894300
rs782567491
103 E>K No ClinGen
ExAC
gnomAD
rs571234555
CA5894299
105 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA379860201
rs1554946294
106 K>* No ClinGen
gnomAD
rs781814822
CA5894298
110 Q>L No ClinGen
ExAC
gnomAD
rs1554946289
CA379860130
115 K>R No ClinGen
gnomAD
rs782490571
CA5894296
COSM181392
117 R>C Variant assessed as Somatic; 4.657e-05 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782490571
CA5894297
117 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs566703225
CA5894295
117 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs566703225
CA379860117
117 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1554946283
CA379860082
122 M>V No ClinGen
gnomAD
rs782790768
CA5894294
123 I>M No ClinGen
ExAC
gnomAD
CA379860063
rs782171884
124 L>F No ClinGen
ExAC
gnomAD
rs370045365
CA218175327
125 I>V No ClinGen
ESP
TOPMed
gnomAD
rs781928921
CA5894292
134 Q>E No ClinGen
ExAC
gnomAD
CA5894275
rs549966258
138 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1015087676
CA217901375
142 G>R No ClinGen
gnomAD
rs782004900
CA5894272
145 L>F No ClinGen
ExAC
gnomAD
rs377321245
COSM925277
CA5894269
147 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5894270
rs782047286
147 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA5894268
rs138886317
148 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782092871
CA5894267
150 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA379733017
rs1554944335
151 V>I No ClinGen
gnomAD
CA5894264
rs782269601
154 M>I No ClinGen
ExAC
gnomAD
CA379732964
rs1554944332
154 M>V No ClinGen
gnomAD
CA5894263
rs782694684
156 A>S No ClinGen
ExAC
gnomAD
CA379732905
rs1213773767
158 A>G No ClinGen
TOPMed
rs1316363049
CA379732915
COSM1352819
158 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1554944326
CA379732838
162 M>R No ClinGen
gnomAD
CA5894262
rs782311837
162 M>V No ClinGen
ExAC
gnomAD
rs372963005
CA379732815
164 V>I No ClinGen
ESP
ExAC
gnomAD
rs372963005
CA5894261
164 V>L No ClinGen
ESP
ExAC
gnomAD
rs781860392
CA5894258
169 H>R No ClinGen
ExAC
gnomAD
rs1465550850
CA379732710
170 E>Q No ClinGen
TOPMed
rs782654813
CA5894257
171 L>P No ClinGen
ExAC
gnomAD
CA5894255
rs781787510
172 V>F No ClinGen
ExAC
CA5894253
rs782079709
173 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5894254
rs782726211
173 R>W Variant assessed as Somatic; 4.66e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1241753346
CA379732639
175 I>V No ClinGen
TOPMed
rs782754561
CA5894251
176 R>T No ClinGen
ExAC
gnomAD
CA379732040
rs1554943977
177 K>E No ClinGen
TOPMed
gnomAD
TCGA novel 178 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1386909460
CA379731995
180 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1554943974
CA379731980
181 Q>E No ClinGen
gnomAD
CA379731931
rs1384357948
184 P>R No ClinGen
TOPMed
CA379731925
rs1564950642
185 P>S No ClinGen
Ensembl
rs1446700718
CA379731902
187 P>A No ClinGen
TOPMed
gnomAD
rs1446700718
CA379731899
187 P>S No ClinGen
TOPMed
gnomAD
rs1446700718
CA379731900
187 P>T No ClinGen
TOPMed
gnomAD
CA5894227
rs781970568
191 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5894228
rs370564233
191 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 193 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5894225
rs782141522
193 E>D No ClinGen
ExAC
gnomAD
CA5894226
rs782761955
193 E>K No ClinGen
ExAC
rs1554943963
CA379731819
194 K>E No ClinGen
gnomAD
CA379731813
rs1233671138
194 K>R No ClinGen
TOPMed
gnomAD
CA5894224
rs569248551
195 D>E No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 195 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1554943958
CA379731776
197 K>E No ClinGen
gnomAD
rs1554943957
CA379731770
197 K>T No ClinGen
gnomAD
rs1564950576
CA379731745
199 C>Y No ClinGen
Ensembl
CA5894223
rs782423525
200 H>Y No ClinGen
ExAC
gnomAD

2 associated diseases with P62070

[MIM: 167000]: Ovarian cancer (OC)

The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:8052619}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 618624]: Noonan syndrome 12 (NS12)

A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS12 inheritance is autosomal dominant. There is considerable variability in severity. {ECO:0000269|PubMed:31130282, ECO:0000269|PubMed:31130285}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:8052619}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS12 inheritance is autosomal dominant. There is considerable variability in severity. {ECO:0000269|PubMed:31130282, ECO:0000269|PubMed:31130285}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for P62070

Type Name Position InterPro Accession
domain Small GTP-binding protein domain 14 - 170 IPR005225

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Lipid-anchor ; Cytoplasmic side
  • Golgi apparatus membrane ; Lipid-anchor
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
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.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name Definition
GDP binding Binding to GDP, guanosine 5'-diphosphate.
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.

5 GO annotations of biological process

Name Definition
osteoblast differentiation The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.
positive regulation of Schwann cell migration Any process that activates or increases the frequency, rate or extent of Schwann cell migration.
Ras protein signal transduction The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
regulation of neuron death Any process that modulates the frequency, rate or extent of neuron death.
Schwann cell migration The orderly movement of a Schwann cell from one site to another. A Schwann cell is a glial cell that ensheathes axons of neuron in the peripheral nervous system and is necessary for their maintainance and function.

34 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P08642 HRAS GTPase HRas Gallus gallus (Chicken) SS
Q6T310 RASL11A Ras-like protein family member 11A Homo sapiens (Human) PR
Q8IYK8 REM2 GTP-binding protein REM 2 Homo sapiens (Human) PR
P55040 GEM GTP-binding protein GEM Homo sapiens (Human) PR
Q6IQ22 RAB12 Ras-related protein Rab-12 Homo sapiens (Human) PR
Q9BU20 CPLANE2 Ciliogenesis and planar polarity effector 2 Homo sapiens (Human) PR
Q96HU8 DIRAS2 GTP-binding protein Di-Ras2 Homo sapiens (Human) PR
P11234 RALB Ras-related protein Ral-B Homo sapiens (Human) PR
P11233 RALA Ras-related protein Ral-A Homo sapiens (Human) PR
Q99578 RIT2 GTP-binding protein Rit2 Homo sapiens (Human) PR
P01116 KRAS GTPase KRas Homo sapiens (Human) EV
P01112 HRAS GTPase HRas Homo sapiens (Human) SS
Q9JIW9 Ralb Ras-related protein Ral-B Mus musculus (Mouse) PR
Q61411 Hras GTPase HRas Mus musculus (Mouse) SS
P32883 Kras GTPase KRas Mus musculus (Mouse) SS
O08989 Mras Ras-related protein M-Ras Mus musculus (Mouse) PR
Q5PR73 Diras2 GTP-binding protein Di-Ras2 Mus musculus (Mouse) PR
Q91Z61 Diras1 GTP-binding protein Di-Ras1 Mus musculus (Mouse) PR
P35283 Rab12 Ras-related protein Rab-12 Mus musculus (Mouse) PR
Q08AT1 Rasl12 Ras-like protein family member 12 Mus musculus (Mouse) PR
A2A825 Cplane2 Ciliogenesis and planar polarity effector 2 Mus musculus (Mouse) PR
P55041 Gem GTP-binding protein GEM Mus musculus (Mouse) PR
P70425 Rit2 GTP-binding protein Rit2 Mus musculus (Mouse) PR
Q8VEL9 Rem2 GTP-binding protein REM 2 Mus musculus (Mouse) PR
P62071 Rras2 Ras-related protein R-Ras2 Mus musculus (Mouse) PR
P36860 Ralb Ras-related protein Ral-B Rattus norvegicus (Rat) PR
P08644 Kras GTPase KRas Rattus norvegicus (Rat) SS
Q9WTY2 Rem2 GTP-binding protein REM 2 Rattus norvegicus (Rat) PR
P20171 Hras GTPase HRas Rattus norvegicus (Rat) SS
Q5BJQ5 Rit2 GTP-binding protein Rit2 Rattus norvegicus (Rat) PR
P97538 Mras Ras-related protein M-Ras Rattus norvegicus (Rat) PR
B7ZTR0 cplane2 Ciliogenesis and planar polarity effector 2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
P79737 nras GTPase NRas Danio rerio (Zebrafish) (Brachydanio rerio) SS
A1DZY4 zgc:110179 Ras-like protein family member 11A-like Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MAAAGWRDGS GQEKYRLVVV GGGGVGKSAL TIQFIQSYFV TDYDPTIEDS YTKQCVIDDR
70 80 90 100 110 120
AARLDILDTA GQEEFGAMRE QYMRTGEGFL LVFSVTDRGS FEEIYKFQRQ ILRVKDRDEF
130 140 150 160 170 180
PMILIGNKAD LDHQRQVTQE EGQQLARQLK VTYMEASAKI RMNVDQAFHE LVRVIRKFQE
190 200
QECPPSPEPT RKEKDKKGCH CVIF