P32243
PR
Gene name |
OTX2 |
Protein name |
Homeobox protein OTX2 |
Names |
Orthodenticle homolog 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5015 |
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 P32243
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P32243-F1 | Predicted | AlphaFoldDB |
210 variants for P32243
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001074938 rs1892049835 |
18 | T>N | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003166491 CA7200576 rs200680654 RCV001239327 |
22 | M>V | Anophthalmia-microphthalmia syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV000010125 rs786205874 |
28 | S>missing | Syndromic microphthalmia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777618282 CA7200572 COSM956430 RCV001344633 |
29 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium Anophthalmia-microphthalmia syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001313341 CA7200546 rs374042850 |
35 | P>A | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7200542 RCV002561776 rs368759331 RCV001212072 |
55 | A>S | Anophthalmia-microphthalmia syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10603418 rs773157352 RCV000360269 RCV000623769 |
68 | R>* | Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1566624472 RCV000022926 |
74 | K>missing | Syndromic microphthalmia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_073793 CA199649 RCV000170472 rs786205224 RCV000494571 |
79 | E>K | Variant assessed as Somatic; impact. Syndromic microphthalmia type 5 RDEOP [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000170471 CA199646 rs104894464 RCV001558575 |
89 | R>* | Variant assessed as Somatic; impact. Syndromic microphthalmia type 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000010124 VAR_029354 rs104894464 CA120500 |
89 | R>G | Syndromic microphthalmia type 5 MCOPS5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001338100 CA7200510 rs200990681 |
89 | R>Q | Variant assessed as Somatic; 0.0 impact. Anophthalmia-microphthalmia syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA390052170 rs1566623392 VAR_065952 RCV000022928 |
90 | R>S | Syndromic microphthalmia type 5 MCOPS5; does not affect the expression or nuclear localization of the protein but inhibits its DNA-binding activity as well as its transactivation capability; the protein is non-functional [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs1555350254 CA390052166 RCV000616304 |
91 | A>D | Anophthalmia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786205884 RCV000170470 |
98 | Q>missing | Syndromic microphthalmia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs925178840 CA261910286 RCV001307876 |
118 | A>P | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001850656 RCV000290304 CA10640349 RCV000348735 RCV003165844 RCV000347638 rs199799627 RCV000386909 |
119 | R>L | Syndromic Microphthalmia, Dominant Syndromic microphthalmia type 5 Pituitary hormone deficiency, combined, 6 OTX2-Related Syndromic Microphthalmia Anophthalmia-microphthalmia syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000398788 RCV000341742 RCV000408269 RCV000307907 CA7200496 rs199799627 RCV001349629 |
119 | R>P | Syndromic microphthalmia type 5 Pituitary hormone deficiency, combined, 6 OTX2-Related Syndromic Microphthalmia Anophthalmia-microphthalmia syndrome Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA390051970 rs1294096975 RCV001340623 |
121 | V>L | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001300555 rs1891915573 |
127 | T>R | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7200490 rs770291855 RCV001113290 |
128 | S>G | Pituitary hormone deficiency, combined, 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs376333965 CA7200486 VAR_029355 |
133 | P>T | MCOPS5 [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs753783256 CA7200483 VAR_029356 |
134 | P>A | MCOPS5 [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA7200482 RCV001233875 rs199761861 |
134 | P>H | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001296190 rs199761861 |
134 | P>L | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989232 RCV001840779 VAR_078446 CA7200481 RCV001215155 RCV002254530 RCV001113289 rs199761861 |
134 | P>R | 46,XY partial gonadal dysgenesis Syndromic microphthalmia type 5 Pituitary hormone deficiency, combined, 6 Anophthalmia-microphthalmia syndrome CPHD6; unknown pathological significance; loss of transcriptional activity, when tested on bicoid binding sites; decreases transactivation mediated by the wild-type protein, when tested on bicoid binding sites; no effect on DNA-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000594111 RCV000596696 rs1555350223 |
135 | S>missing | Syndromic microphthalmia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566623121 RCV000022924 |
136 | S>missing | Syndromic microphthalmia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786205879 RCV000022925 CA213015 |
138 | S>* | Syndromic microphthalmia type 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771047348 CA7200477 RCV000821207 |
141 | T>I | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7200474 RCV001213143 rs770486100 |
143 | A>T | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768857621 CA7200471 RCV001073772 |
144 | S>N | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001111280 rs200171280 CA7200469 |
147 | A>G | Pituitary hormone deficiency, combined, 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
rs1891907901 RCV001350908 |
155 | A>V | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000010123 rs786205873 |
156 | S>missing | Syndromic microphthalmia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA120503 rs104894465 RCV000010126 |
179 | Y>* | Syndromic microphthalmia type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs765382721 CA7200457 RCV001064528 |
186 | S>G | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001857357 CA128838 rs397514463 RCV000022927 |
188 | G>* | Syndromic microphthalmia type 5 Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891902224 RCV001045026 |
191 | G>missing | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891900408 RCV001215981 |
203 | S>* | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000338364 RCV000536545 RCV001111279 RCV003165764 CA7200447 RCV000989231 rs150982073 |
206 | T>N | Syndromic microphthalmia type 5 Pituitary hormone deficiency, combined, 6 Anophthalmia-microphthalmia syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000705232 rs1566622642 |
212 | L>missing | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566622571 RCV000680055 |
217 | A>missing | Syndromic microphthalmia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001867921 CA7200439 RCV000591378 rs761733794 |
219 | L>R | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7200438 rs529946021 RCV001231706 |
220 | S>G | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA128835 VAR_065953 RCV000022923 rs370761964 |
225 | N>S | Pituitary hormone deficiency, combined, 6 CPHD6; acts as a dominant inhibitor of the HESX1 gene [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001367332 CA7200434 rs144449264 RCV001110516 RCV001110517 RCV002249706 |
230 | H>L | Syndromic microphthalmia type 5 Pituitary hormone deficiency, combined, 6 Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA390051243 rs1594952158 RCV000795211 |
236 | A>S | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1594952158 RCV001330508 |
236 | A>T | Pituitary hormone deficiency, combined, 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003130112 RCV001041689 rs199650198 CA7200429 |
240 | T>I | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001041416 rs1891892511 |
241 | Q>* | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1594952111 RCV000824976 |
242 | G>missing | Syndromic microphthalmia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001252757 RCV002549244 rs758228717 CA7200425 |
245 | A>V | Anophthalmia-microphthalmia syndrome Microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1891889944 RCV001299926 |
251 | N>* | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555350156 RCV000656394 |
253 | T>missing | Syndromic microphthalmia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1594952007 RCV001002701 |
263 | T>missing | Syndromic microphthalmia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317377 rs1891888072 |
266 | W>* | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753156713 RCV002547543 RCV001351928 CA7200418 |
283 | S>L | Variant assessed as Somatic; 0.0 impact. Anophthalmia-microphthalmia syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA390052822 rs1412709573 |
2 | M>T | No |
ClinGen gnomAD |
|
|
rs767603643 CA7200588 |
2 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390052777 rs1400172157 |
8 | P>Q | No |
ClinGen gnomAD |
|
|
CA7200585 rs766756721 |
9 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7200584 rs763234678 |
11 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7200583 rs776356711 |
13 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7200579 rs771687556 |
20 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA390052700 rs1207963480 |
21 | G>C | No |
ClinGen TOPMed |
|
|
rs745822138 CA7200578 |
21 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7200575 rs778956556 |
22 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7200574 rs770855748 |
23 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7200573 rs749151724 |
26 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA390052662 rs1259224286 |
27 | P>S | No |
ClinGen gnomAD |
|
|
CA7200571 rs756331034 |
30 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs752941534 CA7200570 |
32 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 32 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449513107 CA390052562 |
33 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758946986 CA7200548 |
34 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs374042850 CA390052554 |
35 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374042850 CA390052555 |
35 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs758119168 | 36 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000519183 rs1555350405 CA390052521 |
40 | R>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1203506236 CA390052492 |
44 | T>M | No |
ClinGen gnomAD |
|
|
rs1229104622 CA390052469 |
48 | A>E | No |
ClinGen gnomAD |
|
|
rs886044145 RCV000283344 |
50 | L>Q | No |
ClinVar dbSNP |
|
|
rs567955379 CA7200543 |
51 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000627008 rs1555350397 |
56 | L>missing | No |
ClinVar dbSNP |
|
|
rs1368488675 CA390052420 |
56 | L>Q | No |
ClinGen gnomAD |
|
|
rs759256101 CA7200541 |
60 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390052391 rs759256101 |
60 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16619876 RCV000480483 rs1064795810 |
63 | P>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs867835552 CA390052366 |
64 | D>E | No |
ClinGen gnomAD |
|
|
rs1374187856 CA390052360 |
65 | I>T | No |
ClinGen gnomAD |
|
|
rs1434432414 CA390052318 |
71 | V>L | No |
ClinGen gnomAD |
|
|
rs1397190102 CA390052221 |
84 | V>I | No |
ClinGen gnomAD |
|
|
CA390052144 rs990697953 |
94 | R>H | No |
ClinGen TOPMed |
|
|
CA261910290 rs990697953 |
94 | R>L | No |
ClinGen TOPMed |
|
|
rs78953717 CA261910289 |
95 | Q>K | No |
ClinGen Ensembl |
|
|
CA390052086 rs1566623353 |
102 | N>D | No |
ClinGen Ensembl |
|
|
CA7200506 rs751258203 |
106 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7200504 rs757971368 |
109 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs779696471 CA7200505 |
109 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA390052031 rs1421844456 |
110 | P>R | No |
ClinGen TOPMed |
|
|
CA7200503 rs750013761 |
110 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs764625033 TCGA novel CA7200502 |
113 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs753729345 CA7200500 |
116 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7200498 rs760396081 |
117 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1267666192 CA390051979 |
118 | A>V | No |
ClinGen gnomAD |
|
|
rs199799627 CA7200495 |
119 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775702810 CA7200497 |
119 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867148217 CA261910285 |
120 | E>K | No |
ClinGen Ensembl |
|
|
rs774537529 CA7200494 |
121 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7200493 rs748205899 |
122 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs970116042 CA261910284 |
123 | S>L | No |
ClinGen Ensembl |
|
|
CA390051947 rs749843466 |
124 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7200491 rs778357805 |
126 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs74658806 CA261910283 |
130 | Q>* | No |
ClinGen Ensembl |
|
|
CA390051911 rs867304376 |
130 | Q>P | No |
ClinGen gnomAD |
|
|
CA261910282 rs867304376 |
130 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758106958 CA7200487 |
132 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7200488 rs758106958 |
132 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA390051895 rs376333965 |
133 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390051889 rs753783256 |
134 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201721391 CA7200479 |
140 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201721391 CA390051852 |
140 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7200475 rs770486100 |
143 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7200473 rs748631596 |
143 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1040844433 CA261910280 |
145 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7200468 rs200171280 |
147 | A>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA390051808 rs1306099663 |
148 | P>S | No |
ClinGen gnomAD |
|
|
rs1345597863 CA390051773 |
153 | S>N | No |
ClinGen TOPMed |
|
|
CA390051762 rs1173013598 |
155 | A>T | No |
ClinGen gnomAD |
|
|
CA7200465 rs756087368 |
157 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 158 | S>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370354056 CA261910279 |
164 | L>M | No |
ClinGen ESP gnomAD |
|
|
rs1224751397 CA390051692 |
166 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 168 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000336862 CA10605952 rs886043793 |
170 | C>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA390051635 rs1566622915 |
174 | S>F | No |
ClinGen Ensembl |
|
|
rs751820068 CA7200461 |
176 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390051620 rs1209472542 |
177 | M>V | No |
ClinGen gnomAD |
|
|
CA390051611 rs1344213875 |
178 | T>A | No |
ClinGen TOPMed |
|
|
CA390051609 rs1594952460 |
178 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 182 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773463323 CA7200458 |
184 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA390051564 rs1286159089 |
185 | Y>C | No |
ClinGen gnomAD |
|
|
CA7200456 rs762435469 |
186 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776964451 CA7200455 |
187 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs142205965 CA7200454 |
188 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 190 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173365017 CA390051534 |
190 | A>P | No |
ClinGen gnomAD |
|
|
rs748910557 CA7200450 |
193 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7200448 rs755578825 |
193 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7200449 rs755578825 |
193 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs748910557 CA7200451 |
193 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA390051490 rs1473138354 |
197 | G>E | No |
ClinGen gnomAD |
|
|
CA261910277 rs907201088 |
198 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA390051486 rs907201088 |
198 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 200 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390051425 rs780929725 |
207 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs780929725 CA7200446 |
207 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA390051419 rs1470784217 |
208 | M>V | No |
ClinGen TOPMed |
|
|
CA7200445 rs754929157 |
211 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7200444 rs751376563 |
211 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA261910276 rs548455339 |
213 | P>S | No |
ClinGen 1000Genomes |
|
|
rs1213822105 CA390051375 |
214 | G>A | No |
ClinGen gnomAD |
|
|
CA7200442 rs374968145 |
214 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA261910275 rs916022550 |
215 | P>L | No |
ClinGen TOPMed |
|
|
CA390051371 rs1419408753 |
215 | P>S | No |
ClinGen TOPMed |
|
|
rs750626422 CA7200441 |
217 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs928898444 CA261910274 |
217 | A>V | No |
ClinGen gnomAD |
|
|
CA7200440 rs765441049 |
218 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs868121860 CA261910273 |
219 | L>F | No |
ClinGen Ensembl |
|
|
CA390051327 rs1209058851 |
223 | G>R | No |
ClinGen Ensembl |
|
|
rs1594952207 CA390051303 |
226 | A>V | No |
ClinGen Ensembl |
|
|
rs144449264 CA7200433 |
230 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772782540 CA7200432 |
231 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA390051265 rs1330502209 |
232 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 232 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 234 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7200431 rs769304167 |
234 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA261910272 rs1006268708 |
235 | P>L | No |
ClinGen TOPMed |
|
|
CA7200430 rs747665958 |
236 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA261910271 rs868295626 |
237 | S>F | No |
ClinGen Ensembl |
|
|
CA261910270 rs143131956 |
239 | S>P | No |
ClinGen ESP TOPMed |
|
|
CA7200427 rs746941491 |
242 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA390051209 rs746941491 |
242 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs768514532 TCGA novel CA7200428 |
242 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
RCV000523428 CA390051199 rs1555350163 |
244 | G>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs139800030 CA7200426 |
245 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390051179 rs781096873 |
247 | S>I | No |
ClinGen TOPMed |
|
|
RCV000489877 rs781096873 CA261910268 |
247 | S>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs977939396 CA261910267 |
247 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1363170287 CA390051168 |
249 | G>D | No |
ClinGen gnomAD |
|
|
CA261910266 rs993488539 |
249 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390051144 rs1322804815 |
252 | S>L | No |
ClinGen gnomAD |
|
|
rs750679604 CA7200424 |
253 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA261910265 rs867979918 |
255 | D>N | No |
ClinGen Ensembl |
|
|
rs779220317 CA7200423 |
258 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321908772 CA390051080 |
261 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407465215 CA390051040 |
267 | K>R | No |
ClinGen gnomAD |
|
|
CA390051034 rs1164601677 |
268 | L>F | No |
ClinGen TOPMed |
|
|
rs764205900 CA7200420 |
274 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA261910264 rs964796364 |
274 | C>S | No |
ClinGen TOPMed |
|
|
CA390050985 rs1566622143 |
275 | L>V | No |
ClinGen Ensembl |
|
|
CA261910263 rs1017328977 |
280 | Q>* | No |
ClinGen TOPMed |
|
|
rs761138937 CA7200419 |
281 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7200415 rs774680300 |
286 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1219049095 CA390050894 CA390050893 |
287 | Q>H | No |
ClinGen TOPMed gnomAD |
3 associated diseases with P32243
[MIM: 610125]: Microphthalmia, syndromic, 5 (MCOPS5)
Patients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including pituitary dysfunction, coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269|PubMed:15846561, ECO:0000269|PubMed:20396904, ECO:0000269|PubMed:22577225, ECO:0000269|PubMed:24167467}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613986]: Pituitary hormone deficiency, combined, 6 (CPHD6)
Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. {ECO:0000269|PubMed:18728160, ECO:0000269|PubMed:22715480}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 610125]: Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP)
An autosomal dominant ocular disease characterized by pattern dystrophy of the retinal pigment epithelium, and photoreceptor degeneration. Mild developmental anomalies include optic nerve head dysplasia, microcornea, and Rathke's cleft cyst. Some patients manifest pituitary dysfunction. {ECO:0000269|PubMed:19956411, ECO:0000269|PubMed:25293953}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Patients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including pituitary dysfunction, coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269|PubMed:15846561, ECO:0000269|PubMed:20396904, ECO:0000269|PubMed:22577225, ECO:0000269|PubMed:24167467}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. {ECO:0000269|PubMed:18728160, ECO:0000269|PubMed:22715480}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant ocular disease characterized by pattern dystrophy of the retinal pigment epithelium, and photoreceptor degeneration. Mild developmental anomalies include optic nerve head dysplasia, microcornea, and Rathke's cleft cyst. Some patients manifest pituitary dysfunction. {ECO:0000269|PubMed:19956411, ECO:0000269|PubMed:25293953}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
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, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| eukaryotic initiation factor 4E binding | Binding to eukaryotic initiation factor 4E, a polypeptide factor involved in the initiation of ribosome-mediated translation. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed 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. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| 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. |
| forebrain development | The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). |
| 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). |
| 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 embryonic development | Any process that activates or increases the frequency, rate or extent of embryonic development. |
| positive regulation of gastrulation | Any process that activates or increases the frequency, rate or extent of gastrulation. |
| 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. |
| primitive streak formation | The developmental process pertaining to the initial formation of the primitive streak from unspecified parts. The primitive streak is a ridge of cells running along the midline of the embryo where the mesoderm ingresses. It defines the anterior-posterior axis. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| regulation of fibroblast growth factor receptor signaling pathway | Any process that modulates the frequency, rate or extent of fibroblast growth factor receptor signaling pathway activity. |
| regulation of smoothened signaling pathway | Any process that modulates the frequency, rate or extent of smoothened signaling. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9XSK0 | CRX | Cone-rod homeobox protein | Bos taurus (Bovine) | PR |
| O43186 | CRX | Cone-rod homeobox protein | Homo sapiens (Human) | PR |
| O54751 | Crx | Cone-rod homeobox protein | Mus musculus (Mouse) | PR |
| P80206 | Otx2 | Homeobox protein OTX2 | Mus musculus (Mouse) | 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 |
| Q28FN6 | otx2 | Homeobox protein OTX2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q91994 | otx1b | Homeobox protein OTX1 B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMSYLKQPPY | AVNGLSLTTS | GMDLLHPSVG | YPATPRKQRR | ERTTFTRAQL | DVLEALFAKT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RYPDIFMREE | VALKINLPES | RVQVWFKNRR | AKCRQQQQQQ | QNGGQNKVRP | AKKKTSPARE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSSESGTSGQ | FTPPSSTSVP | TIASSSAPVS | IWSPASISPL | SDPLSTSSSC | MQRSYPMTYT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QASGYSQGYA | GSTSYFGGMD | CGSYLTPMHH | QLPGPGATLS | PMGTNAVTSH | LNQSPASLST |
| 250 | 260 | 270 | 280 | ||
| QGYGASSLGF | NSTTDCLDYK | DQTASWKLNF | NADCLDYKDQ | TSSWKFQVL |