O14813
Gene name |
PHOX2A (ARIX, PMX2A) |
Protein name |
Paired mesoderm homeobox protein 2A |
Names |
ARIX1 homeodomain protein, Aristaless homeobox protein homolog, Paired-like homeobox 2A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:401 |
EC number |
|
Protein Class |
|

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 |
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 |