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 Q8NHV9

Entry ID Method Resolution Chain Position Source
AF-Q8NHV9-F1 Predicted AlphaFoldDB

141 variants for Q8NHV9

Variant ID(s) Position Change Description Diseaes Association Provenance
CA414390817
rs782532336
2 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs782532336
CA10504181
2 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs782627066
CA10504179
3 R>C No ClinGen
ExAC
gnomAD
CA414390814
rs1556000516
3 R>H No ClinGen
gnomAD
CA414390806
rs1556000513
4 S>L No ClinGen
gnomAD
CA414390811
rs1556000514
4 S>T No ClinGen
gnomAD
CA414390805
rs1407807674
5 L>I No ClinGen
TOPMed
rs1556000507
CA414390796
6 V>A No ClinGen
gnomAD
CA414390798
rs931167506
6 V>F No ClinGen
TOPMed
gnomAD
CA414390799
rs931167506
6 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA334995577
rs931167506
6 V>L No ClinGen
TOPMed
gnomAD
rs781806029
CA414390793
7 H>D No ClinGen
ExAC
gnomAD
rs1240481224
CA414390791
7 H>R No ClinGen
TOPMed
gnomAD
rs781806029
CA10504177
7 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 8 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10504176
COSM1223720
rs782699512
8 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA414390779
rs1556000500
9 T>A No ClinGen
gnomAD
rs149847534
CA10504174
10 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414390774
rs868930445
10 V>M No ClinGen
gnomAD
CA10504173
rs782766172
11 F>L No ClinGen
ExAC
gnomAD
CA10504170
rs202119409
15 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782043508
CA10504168
21 I>T No ClinGen
ExAC
gnomAD
CA414390655
rs782412199
27 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs782412199
CA10504167
27 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA334995575
rs928542538
28 G>A No ClinGen
Ensembl
CA414390653
rs782270842
28 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA10504166
rs782270842
28 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs980162869
CA334995574
29 A>V No ClinGen
Ensembl
rs781990338
CA10504165
30 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs782356480
CA10504164
31 S>A No ClinGen
ExAC
gnomAD
CA414390629
rs1377162159
32 S>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA414390627
rs1435468418
33 A>T No ClinGen
TOPMed
CA10504162
rs782576838
36 H>R No ClinGen
ExAC
gnomAD
CA10504160
rs36014613
37 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1556000479
CA414390572
41 A>D No ClinGen
gnomAD
CA10504158
rs782513988
44 L>V No ClinGen
ExAC
rs781846970
CA10504157
45 M>T No ClinGen
ExAC
gnomAD
TCGA novel 47 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10504155
rs782456853
48 M>T No ClinGen
ExAC
gnomAD
CA10504154
rs140029775
50 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA334995573
rs990207644
51 E>* No ClinGen
Ensembl
CA10504152
rs782155047
52 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs782155047
CA414390499
52 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs150693893
CA10504153
COSM3964633
52 G>S lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1556000472
CA414390496
53 G>C No ClinGen
gnomAD
rs1556000470
CA414390485
55 N>D No ClinGen
gnomAD
rs1556000468
CA414390482
55 N>S No ClinGen
gnomAD
CA10504150
rs782764697
57 E>K No ClinGen
ExAC
gnomAD
CA10504149
rs782101893
57 E>V No ClinGen
ExAC
gnomAD
CA10504147
rs782032966
59 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA414390455
rs868942951
COSM247038
59 G>D Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs782032966
CA10504146
59 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs782032966
CA10504145
59 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA334995572
rs868942951
59 G>V No ClinGen
TOPMed
rs1339647526
CA414390433
62 R>P No ClinGen
TOPMed
CA414390430
rs1556000460
63 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs782630665
CA10504142
64 G>S No ClinGen
ExAC
gnomAD
CA10504141
rs782482911
65 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA414390416
COSM755632
rs868960412
65 G>D lung large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
CA10504140
rs782202572
66 M>V No ClinGen
ExAC
gnomAD
rs1556000455
CA414390404
67 I>V No ClinGen
gnomAD
rs781893705
CA414390387
69 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA10504138
rs782569899
69 E>K No ClinGen
ExAC
gnomAD
rs1454758659
CA414390379
71 G>S No ClinGen
TOPMed
gnomAD
rs782783073
CA414390372
72 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA10504136
rs782783073
72 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs781841223
CA414390343
76 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs781841223
CA10504134
76 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA414390346
rs1449125054
76 E>K No ClinGen
TOPMed
CA414390335
rs1556000440
77 P>R No ClinGen
gnomAD
CA10504132
rs782062680
78 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA10504131
rs782174738
COSM3390392
78 R>Q Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782801044
CA10504130
80 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1362525858
CA414390306
82 Q>P No ClinGen
TOPMed
CA414390305
rs1362525858
82 Q>R No ClinGen
TOPMed
CA414390294
rs781993646
84 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781996156
CA10504127
84 P>L No ClinGen
ExAC
gnomAD
rs781996156
CA414390292
84 P>R No ClinGen
ExAC
gnomAD
rs781993646
CA10504128
84 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10504125
rs782774382
85 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA414390272
rs1309600311
87 E>D No ClinGen
TOPMed
CA10504123
rs782318799
88 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA414390267
rs782318799
88 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10504124
rs782318799
88 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA10504122
rs782298395
89 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA414390259
rs1556000405
90 Q>* No ClinGen
gnomAD
CA414390250
rs1246288348
91 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 92 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414390237
rs1556000400
93 M>T No ClinGen
gnomAD
rs880000723
CA414390240
93 M>V No ClinGen
gnomAD
CA414390221
rs782682773
95 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA10504120
rs782390666
95 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs782682773
CA10504121
95 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs782248993
CA10504119
96 P>L No ClinGen
ExAC
gnomAD
CA414390199
rs1416988640
99 E>K No ClinGen
TOPMed
CA414390179
rs1556000395
101 M>K No ClinGen
gnomAD
CA10504117
rs368824826
101 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10504116
rs781960574
103 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA414390159
rs1556000394
104 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs782571468
CA10504115
105 T>I No ClinGen
ExAC
gnomAD
CA334995568
rs781931824
106 R>P No ClinGen
TOPMed
gnomAD
COSM1465244
rs1385779747
CA414390139
108 T>M large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
TCGA novel 115 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs938508848
CA334995565
118 L>M No ClinGen
TOPMed
CA10504113
rs781885702
120 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1293096269
CA414390058
120 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA414390039
rs1336042822
123 R>G No ClinGen
TOPMed
rs782789749
CA10504112
123 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA414390018
rs1556000379
126 Q>P No ClinGen
gnomAD
rs1556000378
CA414390006
127 Y>* No ClinGen
Ensembl
CA10504110
rs781837641
131 P>H No ClinGen
ExAC
gnomAD
CA10504108
rs374507906
132 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374507906
CA10504109
132 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 137 A>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 138 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10504089
rs191816066
138 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA414389522
rs1426587023
139 N>T No ClinGen
TOPMed
CA414389470
rs1569312180
144 E>K No ClinGen
Ensembl
rs782781485
CA334995416
148 R>L No ClinGen
ExAC
gnomAD
rs782781485
CA10504088
148 R>Q No ClinGen
ExAC
gnomAD
rs147476615
CA10504074
158 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10504073
rs782429266
158 C>Y No ClinGen
ExAC
gnomAD
rs1223192137
CA414389016
160 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1484612375
CA414388930
168 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1204114561
CA414388923
168 A>V No ClinGen
TOPMed
CA10504071
rs148295665
169 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144256540
CA10504070
170 E>V No ClinGen
ESP
ExAC
TOPMed
rs781847765
CA10504069
171 L>V No ClinGen
ExAC
gnomAD
CA414388887
rs1555999424
172 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs2301977
VAR_049587
RCV000888556
CA10504068
172 R>H found in infertile men; unknown pathological significance; no effect on induction of target genes expression [UniProt] No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA414388869
rs1445759218
174 D>Y No ClinGen
TOPMed
CA414388856
rs1555999416
175 P>S No ClinGen
gnomAD
CA10504063
rs373236335
176 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA10504065
rs782819273
176 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA334995208
rs782813436
177 D>G No ClinGen
gnomAD
VAR_077002
CA10504062
rs138060880
177 D>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10504061
rs138060880
177 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1555999399
CA414388794
181 I>V No ClinGen
gnomAD
rs782317805
CA10504059
182 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA10504057
rs782024712
183 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10504056
rs782395381
184 D>E No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q8NHV9

1 regional properties for Q8NHV9

Type Name Position InterPro Accession
domain Small GTP-binding protein domain 14 - 171 IPR005225

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.

5 GO annotations of molecular function

Name Definition
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription factor activity A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II transcription regulatory region sequence-specific DNA binding Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
sequence-specific double-stranded DNA binding Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

5 GO annotations of biological process

Name Definition
androgen receptor signaling pathway The series of molecular signals initiated by androgen binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
enteric nervous system development The process whose specific outcome is the progression of the enteric nervous system over time, from its formation to the mature structure. The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation.
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).
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

22 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A0JNI8 LHX9 LIM/homeobox protein Lhx9 Bos taurus (Bovine) PR
Q90881 LHX9 LIM/homeobox protein Lhx9 Gallus gallus (Chicken) PR
F1NEA7 DMBX1 Diencephalon/mesencephalon homeobox protein 1 Gallus gallus (Chicken) PR
Q90963 PRRX2 Paired mesoderm homeobox protein 2 Gallus gallus (Chicken) PR
Q8IRC7 Awh LIM/homeobox protein Awh Drosophila melanogaster (Fruit fly) PR
Q9NQ69 LHX9 LIM/homeobox protein Lhx9 Homo sapiens (Human) PR
Q99811 PRRX2 Paired mesoderm homeobox protein 2 Homo sapiens (Human) PR
P50458 LHX2 LIM/homeobox protein Lhx2 Homo sapiens (Human) PR
O15266 SHOX Short stature homeobox protein Homo sapiens (Human) PR
O95076 ALX3 Homeobox protein aristaless-like 3 Homo sapiens (Human) PR
Q9BQY4 RHOXF2 Rhox homeobox family member 2 Homo sapiens (Human) PR
O14813 PHOX2A Paired mesoderm homeobox protein 2A Homo sapiens (Human) PR
P63013 Prrx1 Paired mesoderm homeobox protein 1 Mus musculus (Mouse) PR
Q8VIH1 Nobox Homeobox protein NOBOX Mus musculus (Mouse) PR
Q06348 Prrx2 Paired mesoderm homeobox protein 2 Mus musculus (Mouse) PR
O88933 Esx1 Extraembryonic, spermatogenesis, homeobox 1 (Homeobox protein SPX1) (Homeodomain protein EPX) Mus musculus (Mouse) EV
Q9WUH2 Lhx9 LIM/homeobox protein Lhx9 Mus musculus (Mouse) PR
Q80W90 Lhx9 LIM/homeobox protein Lhx9 Rattus norvegicus (Rat) PR
P36198 Lhx2 LIM/homeobox protein Lhx2 Rattus norvegicus (Rat) PR
Q28G02 siamois Homeobox protein siamois Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q566X8 dmbx1b Diencephalon/mesencephalon homeobox protein 1-B Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q1LWV4 lhx9 LIM/homeobox protein Lhx9 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MARSLVHDTV FYCLSVYQVK ISPTPQLGAA SSAEGHVGQG APGLMGNMNP EGGVNHENGM
70 80 90 100 110 120
NRDGGMIPEG GGGNQEPRQQ PQPPPEEPAQ AAMEGPQPEN MQPRTRRTKF TLLQVEELES
130 140 150 160 170 180
VFRHTQYPDV PTRRELAENL GVTEDKVRVW FKNKRARCRR HQRELMLANE LRADPDDCVY
IVVD