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 O14813

Entry ID Method Resolution Chain Position Source
AF-O14813-F1 Predicted AlphaFoldDB

204 variants for O14813

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000007242
VAR_019014
CA253980
rs104894269
72 A>V Fibrosis of extraocular muscles, congenital, 2 Fibrosis of extraocular muscles, congenital, 2 (cfeom2) CFEOM2 [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs1590729728
CA381748258
6 L>P No ClinGen
Ensembl
CA381748242
rs1411232386
7 N>S No ClinGen
TOPMed
TCGA novel 8 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762717173
CA6170949
11 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA224386690
rs911631321
13 V>L No ClinGen
Ensembl
CA224386688
rs987010045
14 A>E No ClinGen
TOPMed
rs987010045
CA224386687
14 A>V No ClinGen
TOPMed
rs771380172
CA6170943
16 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA6170945
rs777047193
16 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA381748068
rs1590729705
16 M>L No ClinGen
Ensembl
rs777047193
CA6170946
16 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs777047193
CA6170944
16 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1479879253
CA381747991
18 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA381747949
rs1203339283
20 A>T No ClinGen
TOPMed
TCGA novel 20 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA381747419
rs1443141971
22 G>D No ClinGen
TOPMed
CA224385911
rs954354297
22 G>R No ClinGen
Ensembl
CA224385909
rs866212469
26 A>S No ClinGen
Ensembl
CA381747220
rs1387578668
27 C>R No ClinGen
gnomAD
CA6170938
rs778949321
30 P>A No ClinGen
ExAC
gnomAD
rs1471742598
CA381747102
30 P>R No ClinGen
TOPMed
CA6170936
rs750255258
31 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA381747046
rs1176426459
32 G>C No ClinGen
gnomAD
TCGA novel
CA381746899
rs1590729630
39 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs781012132
CA6170935
40 P>S No ClinGen
ExAC
gnomAD
CA381746846
rs757314327
42 F>L No ClinGen
ExAC
gnomAD
rs757314327
CA6170934
42 F>V No ClinGen
ExAC
gnomAD
rs1253973213
CA381746813
43 P>R No ClinGen
gnomAD
rs1396118353
CA381746762
46 G>R No ClinGen
TOPMed
CA224385854
rs962759002
48 P>L No ClinGen
Ensembl
rs1335560338
CA381746714
48 P>S No ClinGen
TOPMed
rs1590729608
CA381746657
50 P>A No ClinGen
Ensembl
CA381746604
rs1447989710
52 L>V No ClinGen
TOPMed
rs1323014867
CA381746583
53 G>R No ClinGen
gnomAD
rs1344828352
CA381746541
56 N>D No ClinGen
TOPMed
CA381746538
rs1226641955
56 N>S No ClinGen
TOPMed
rs763728508
CA6170932
58 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA224385844
rs1004154644
61 A>S No ClinGen
Ensembl
TCGA novel 62 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA224385838
rs12787525
62 L>V No ClinGen
Ensembl
CA381746325
rs1284175404
63 R>S No ClinGen
gnomAD
CA381746246
rs1225639714
65 H>N No ClinGen
TOPMed
gnomAD
CA6170929
rs764865688
68 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1182968835
CA381746160
69 P>R No ClinGen
TOPMed
CA381746104
rs1248558741
72 A>T No ClinGen
TOPMed
rs1284011059
CA381745151
73 V>E No ClinGen
TOPMed
gnomAD
CA381745146
rs1284011059
73 V>G No ClinGen
TOPMed
gnomAD
CA381745102
rs1461590608
75 Y>F No ClinGen
gnomAD
CA381745074
rs1278389052
76 K>T No ClinGen
TOPMed
TCGA novel 77 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA381744961
rs1205778370
79 P>S No ClinGen
gnomAD
CA224384479
rs1038890031
82 S>A No ClinGen
TOPMed
gnomAD
CA6170883
rs777678122
82 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs777678122
CA381744881
82 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1038890031
CA381744888
82 S>T No ClinGen
TOPMed
gnomAD
CA381744868
rs1488036379
83 G>D No ClinGen
TOPMed
CA6170881
rs148937033
85 H>Y No ClinGen
ESP
ExAC
gnomAD
rs145702565
CA6170880
86 E>Q No ClinGen
ESP
ExAC
gnomAD
CA224384446
rs941856331
87 K>E No ClinGen
Ensembl
rs370435269
CA381744778
88 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370435269
CA6170878
88 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6170879
rs370435269
88 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1238984969
CA381744737
90 Q>* No ClinGen
gnomAD
TCGA novel 91 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA381744709
rs1189345596
91 R>Q No ClinGen
TOPMed
TCGA novel 92 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6170875
rs750831247
93 I>L No ClinGen
ExAC
rs1015776934
CA224384415
93 I>N No ClinGen
TOPMed
CA381744658
rs1261137367
94 R>H No ClinGen
gnomAD
rs1003429384
CA224384410
96 T>A No ClinGen
TOPMed
CA381744587
rs1329217738
96 T>M No ClinGen
Ensembl
rs767850424
CA6170874
98 T>A No ClinGen
ExAC
gnomAD
CA381744510
rs1289489074
99 S>R No ClinGen
gnomAD
rs774881202
CA6170872
103 K>E No ClinGen
ExAC
gnomAD
CA6170869
rs775706276
110 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA6170867
rs545021626
111 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA381744291
rs545021626
111 E>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs577206882
CA6170866
112 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771856914
CA6170865
113 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs748036118
COSM1676278
CA6170864
116 D>A lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6170862
rs754855249
119 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1477474721
CA381744068
120 R>C No ClinGen
gnomAD
CA381744020
rs1353217375
122 E>A No ClinGen
TOPMed
rs1421335811
CA381743996
123 L>P No ClinGen
gnomAD
rs559070400
CA6170861
125 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 128 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1219714470
CA381743890
128 D>Y No ClinGen
gnomAD
rs755816300
CA6170859
133 R>C No ClinGen
ExAC
gnomAD
CA381743818
rs1198361707
133 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs915684860
CA224383895
141 R>H No ClinGen
TOPMed
gnomAD
CA381743498
rs915684860
141 R>P No ClinGen
TOPMed
gnomAD
CA6170841
rs745524146
143 A>S No ClinGen
ExAC
gnomAD
TCGA novel 144 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1382912704
CA381743419
147 K>Q No ClinGen
gnomAD
rs1280398620
CA381743395
148 Q>E No ClinGen
gnomAD
rs991221797
CA224383889
149 E>G No ClinGen
TOPMed
gnomAD
CA381743355
rs1350964049
150 R>C No ClinGen
TOPMed
gnomAD
rs1350964049
CA381743352
150 R>S No ClinGen
TOPMed
gnomAD
CA381743332
rs1311222076
151 A>P No ClinGen
gnomAD
CA381743333
rs1311222076
151 A>T No ClinGen
gnomAD
rs957558168
CA224383881
151 A>V No ClinGen
TOPMed
rs1445202690
CA381743291
153 S>R No ClinGen
TOPMed
gnomAD
rs1242525580
CA381743301
153 S>T No ClinGen
TOPMed
rs1244727938
CA381743288
154 A>S No ClinGen
TOPMed
gnomAD
rs926105577
CA224383877
155 K>E No ClinGen
TOPMed
gnomAD
TCGA novel 156 G>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1301085829
CA381743221
158 A>E No ClinGen
TOPMed
gnomAD
rs1301085829
CA381743216
158 A>V No ClinGen
TOPMed
gnomAD
rs1450109937
CA381743192
160 A>E No ClinGen
gnomAD
CA381743198
rs1394206962
160 A>P No ClinGen
TOPMed
rs1160019132
CA381743177
161 A>G No ClinGen
TOPMed
rs756847839
CA6170839
162 G>S No ClinGen
ExAC
gnomAD
rs965362508
CA224383848
162 G>V No ClinGen
TOPMed
gnomAD
rs1382348317
CA381743154
163 A>S No ClinGen
TOPMed
gnomAD
CA381743158
rs1382348317
163 A>T No ClinGen
TOPMed
gnomAD
rs1324838199
CA381743145
163 A>V No ClinGen
TOPMed
CA224383835
rs1019376816
164 K>R No ClinGen
TOPMed
gnomAD
CA224383829
rs910787400
165 K>E No ClinGen
gnomAD
CA224383824
rs749817345
167 E>G No ClinGen
Ensembl
rs1307339741
CA381743109
167 E>K No ClinGen
TOPMed
rs751993661
CA6170836
168 A>T No ClinGen
ExAC
gnomAD
CA224383822
rs1008875170
169 R>C No ClinGen
TOPMed
rs1412078000
CA381743080
170 C>R No ClinGen
TOPMed
gnomAD
CA381743060
rs1184175409
171 S>F No ClinGen
TOPMed
gnomAD
CA381743045
rs1486253537
173 E>K No ClinGen
gnomAD
rs984798743
CA224383820
174 D>H No ClinGen
gnomAD
CA381743031
rs984798743
174 D>N No ClinGen
gnomAD
CA381743010
rs773687701
CA224383817
175 D>E No ClinGen
TOPMed
gnomAD
rs1487117889
CA381742952
179 E>G No ClinGen
gnomAD
CA381742934
rs1262176473
180 S>C No ClinGen
gnomAD
rs1262176473
CA381742936
180 S>Y No ClinGen
gnomAD
rs1239276842
CA381742922
181 T>M No ClinGen
gnomAD
rs1457992431
CA381742903
182 C>W No ClinGen
TOPMed
rs1320953420
CA381742868
185 T>A No ClinGen
gnomAD
CA381742859
rs1310241620
185 T>M No ClinGen
gnomAD
CA381742849
rs1180189292
186 P>S No ClinGen
TOPMed
rs1297679762
CA381742828
187 D>G No ClinGen
gnomAD
rs1355965853
CA381742834
187 D>N No ClinGen
gnomAD
rs1469218529
CA381742790
189 T>I No ClinGen
TOPMed
CA381742763
rs1362501840
191 S>* No ClinGen
gnomAD
CA6170832
rs765408975
193 P>L No ClinGen
ExAC
gnomAD
rs1457587202
CA381742737
193 P>S No ClinGen
gnomAD
rs953362105
CA224383804
194 P>L No ClinGen
TOPMed
rs1423476484
CA381742678
197 A>V No ClinGen
gnomAD
CA381742660
rs1192102188
198 P>L No ClinGen
gnomAD
rs1476578050
CA381742656
199 G>C No ClinGen
gnomAD
CA381742653
rs1263202462
199 G>D No ClinGen
gnomAD
rs1476578050
CA381742658
199 G>S No ClinGen
gnomAD
CA381742599
rs994875339
202 S>I No ClinGen
TOPMed
gnomAD
rs994875339
CA224383788
202 S>T No ClinGen
TOPMed
gnomAD
rs1263486031
CA381742566
204 R>C No ClinGen
gnomAD
rs1277530682
CA381742473
209 P>L No ClinGen
gnomAD
CA224383785
rs993516462
209 P>S No ClinGen
gnomAD
CA381742426
rs1376394068
211 P>L No ClinGen
TOPMed
rs1328340353
CA381742432
211 P>S No ClinGen
gnomAD
rs1436890474
CA381742176
225 Q>L No ClinGen
TOPMed
CA6170828
rs753951866
226 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1295677456
CA381742039
230 A>T No ClinGen
gnomAD
CA381741984
rs1399988331
232 W>C No ClinGen
gnomAD
rs1471522999
CA381742007
232 W>G No ClinGen
TOPMed
rs760780805
CA6170826
233 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA381741940
rs1467545612
235 V>M No ClinGen
TOPMed
CA381741877
rs1467590627
238 G>C No ClinGen
gnomAD
rs1415268847
CA381741814
240 G>D No ClinGen
TOPMed
CA381741823
rs1396164038
240 G>S No ClinGen
TOPMed
rs1338843952
CA381741789
241 G>A No ClinGen
TOPMed
rs1195075946
CA381741742
243 P>T No ClinGen
TOPMed
gnomAD
TCGA novel 248 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1411367861
CA381741641
248 A>T No ClinGen
gnomAD
rs1045829640
CA224383748
249 E>* No ClinGen
TOPMed
CA381741115
rs1280277327
253 A>G No ClinGen
TOPMed
rs999870931
CA224383736
253 A>S No ClinGen
Ensembl
CA6170824
rs768291497
255 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA381741061
rs1041507260
256 P>L No ClinGen
TOPMed
gnomAD
rs1041507260
CA381741065
VAR_019016
256 P>Q may be involved in congenital central hypoventilation syndrome [UniProt] No ClinGen
UniProt
TOPMed
dbSNP
gnomAD
CA224383734
rs1041507260
256 P>R No ClinGen
TOPMed
gnomAD
CA6170821
rs769308284
258 E>V No ClinGen
ExAC
gnomAD
rs780563989
CA6170819
260 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA6170820
rs745442750
260 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA381741018
rs1400298597
261 P>S No ClinGen
TOPMed
CA381741013
rs1397771255
262 G>R No ClinGen
TOPMed
gnomAD
CA381741001
rs1401776265
263 P>S No ClinGen
TOPMed
CA6170818
rs770665117
264 F>C No ClinGen
ExAC
gnomAD
rs746592765
CA6170817
265 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA224383690
rs867393034
266 G>W No ClinGen
TOPMed
gnomAD
CA6170815
rs758767848
267 V>I No ClinGen
ExAC
gnomAD
CA6170816
rs758767848
267 V>L No ClinGen
ExAC
gnomAD
CA381740942
rs1276286873
269 S>F No ClinGen
TOPMed
rs1237349515
CA381740905
272 H>Q No ClinGen
TOPMed
gnomAD
rs1590726449
CA381740913
272 H>Y No ClinGen
Ensembl
rs779617832
CA6170813
273 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs755534664
CA6170812
274 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1175201206
CA381740863
276 G>D No ClinGen
TOPMed
gnomAD
rs766349697
CA6170810
278 A>T No ClinGen
ExAC
gnomAD
rs1343043756
CA381740845
278 A>V No ClinGen
TOPMed
gnomAD
rs935695907
CA224383677
279 L>P No ClinGen
TOPMed
gnomAD
rs750573956
CA6170808
280 K>* No ClinGen
ExAC
gnomAD
rs763955171
CA6170807
281 T>I No ClinGen
ExAC
gnomAD
CA224383653
rs926116966
282 N>D No ClinGen
TOPMed
rs576149067
CA6170806
282 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA381740822
rs1590726393
283 L>I No ClinGen
Ensembl
rs1336693230
CA381740810
284 F>L No ClinGen
gnomAD
rs1334157215
CA381740807
285 F>Q No ClinGen
gnomAD

1 associated diseases with O14813

[MIM: 600348]: Band heterotopia (BH)

A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum. {ECO:0000269|PubMed:24859200, ECO:0000269|PubMed:28556411}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum. {ECO:0000269|PubMed:24859200, ECO:0000269|PubMed:28556411}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for O14813

Type Name Position InterPro Accession
conserved_site ATP-dependent RNA helicase DEAD-box, conserved site 227 - 235 IPR000629
domain Helicase, C-terminal 292 - 456 IPR001650
domain DEAD/DEAH box helicase domain 101 - 268 IPR011545
domain Helicase superfamily 1/2, ATP-binding domain 96 - 296 IPR014001
domain RNA helicase, DEAD-box type, Q motif 77 - 105 IPR014014

Functions

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

2 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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 transcription activator activity, RNA polymerase II-specific A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
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.

12 GO annotations of biological process

Name Definition
dopaminergic neuron differentiation The process in which a neuroblast acquires the specialized structural and functional features of a dopaminergic neuron, a neuron that secretes dopamine.
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.
locus ceruleus development The process whose specific outcome is the progression of the locus ceruleus over time, from its formation to the mature structure. The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic.
midbrain development The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles).
noradrenergic neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of an noradrenergic neuron, a neuron that secretes noradrenaline.
oculomotor nerve formation The process that gives rise to the oculomotor nerve. This process pertains to the initial formation of a structure from unspecified parts. This motor nerve innervates all extraocular muscles except the superior oblique and the lateral rectus muscles. The superior division supplies the levator palpebrae superioris and superior rectus muscles. The inferior division supplies the medial rectus, inferior rectus and inferior oblique muscles. This nerve also innervates the striated muscles of the eyelid. Pupillary constriction and lens movement are mediated by this nerve for near vision. In the orbit the inferior division sends branches that enter the ciliary ganglion where they form functional contacts (synapses) with the ganglion cells. The ganglion cells send nerve fibers into the back of the eye where they travel to ultimately innervate the ciliary muscle and the constrictor pupillae muscle.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of respiratory gaseous exchange Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
somatic motor neuron differentiation The process in which neuroepithelial cells in the neural tube acquire specialized structural and/or functional features of somatic motor neurons. Somatic motor neurons innervate skeletal muscle targets and are responsible for transmission of motor impulses from the brain to the periphery. Differentiation includes the processes involved in commitment of a cell to a specific fate.
sympathetic nervous system development The process whose specific outcome is the progression of the sympathetic nervous system over time, from its formation to the mature structure. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter.
trochlear nerve formation The process that gives rise to the trochlear nerve. This process pertains to the initial formation of a structure from unspecified parts. The trochlear nerve is a motor nerve and is the only cranial nerve to exit the brain dorsally. The trochlear nerve innervates the superior oblique muscle.

11 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8NHV9 RHOXF1 Rhox homeobox family member 1 Homo sapiens (Human) PR
Q9BQY4 RHOXF2 Rhox homeobox family member 2 Homo sapiens (Human) PR
O95076 ALX3 Homeobox protein aristaless-like 3 Homo sapiens (Human) PR
Q99811 PRRX2 Paired mesoderm homeobox protein 2 Homo sapiens (Human) PR
Q62066 Phox2a Paired mesoderm homeobox protein 2A Mus musculus (Mouse) PR
P63013 Prrx1 Paired mesoderm homeobox protein 1 Mus musculus (Mouse) PR
Q62782 Phox2a Paired mesoderm homeobox protein 2A Rattus norvegicus (Rat) PR
Q7XUJ5 HOX22 Homeobox-leucine zipper protein HOX22 Oryza sativa subsp japonica (Rice) PR
Q6H6S3 HOX24 Homeobox-leucine zipper protein HOX24 Oryza sativa subsp japonica (Rice) PR
A3BYC1 HOX25 Homeobox-leucine zipper protein HOX25 Oryza sativa subsp japonica (Rice) PR
Q9M276 ATHB-12 Homeobox-leucine zipper protein ATHB-12 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MDYSYLNSYD SCVAAMEASA YGDFGACSQP GGFQYSPLRP AFPAAGPPCP ALGSSNCALG
70 80 90 100 110 120
ALRDHQPAPY SAVPYKFFPE PSGLHEKRKQ RRIRTTFTSA QLKELERVFA ETHYPDIYTR
130 140 150 160 170 180
EELALKIDLT EARVQVWFQN RRAKFRKQER AASAKGAAGA AGAKKGEARC SSEDDDSKES
190 200 210 220 230 240
TCSPTPDSTA SLPPPPAPGL ASPRLSPSPL PVALGSGPGP GPGPQPLKGA LWAGVAGGGG
250 260 270 280
GGPGAGAAEL LKAWQPAESG PGPFSGVLSS FHRKPGPALK TNLF