PAX3
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Homo sapiens |
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PAX3 is differentially expressed in 217 experiments: 129 organism parts: skin, skeletal muscle, ... (127 more);, 192 disease states: normal, chronic lymphocytic leukemia, ... (190 more);, 69 cell types 257 cell lines 26 compound treatments and 76 other conditions. |
| Synonyms |
HUP2, WS1 |
| Orthologs |
pax3a
(Danio rerio)
pax3b
(Danio rerio)
F1MTX0_BOVIN
(Bos taurus)
Pax3
(Mus musculus)
F1NYH7_CHICK
(Gallus gallus)
Pax3
(Rattus norvegicus)
F6SHF6_CIOIN
(Ciona intestinalis)
gsb
(Drosophila melanogaster)
gsb-n
(Drosophila melanogaster)
prd
(Drosophila melanogaster)
pax3
(Xenopus laevis)
PAX3
(Canis familiaris)
(Compare orthologs)
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| Gene Ontology ID |
GO:0009887, GO:0048066, GO:0003682, GO:0003677, GO:0008283, GO:0008284, GO:0003700, GO:0003705, GO:0016477, GO:0007275, GO:0007507, GO:0007517, GO:0007605, GO:0005515, GO:0006915, GO:0005634, GO:0000122, GO:0006355, GO:0006366, GO:0045944, GO:0043565, GO:0045893, GO:0060594, GO:0048663, GO:0001755, GO:0001843, GO:0021915, GO:0021527 |
| InterPro ID |
IPR001523, IPR001356, IPR022106 |
| Gene Ontology Term |
cell migration, DNA binding, protein binding, apoptosis, regulation of transcription, DNA-dependent, cell proliferation, positive regulation of cell proliferation, transcription from RNA polymerase II promoter, sequence-specific DNA binding, developmental pigmentation, positive regulation of transcription from RNA polymerase II promoter, multicellular organismal development, sensory perception of sound, nucleus, muscle organ development, heart development, chromatin binding, negative regulation of transcription from RNA polymerase II promoter, positive regulation of transcription, DNA-dependent, organ morphogenesis, neural tube closure, neural crest cell migration, neural tube development, mammary gland specification, spinal cord association neuron differentiation, neuron fate commitment, sequence-specific DNA binding transcription factor activity, sequence-specific distal enhancer binding RNA polymerase II transcription factor activity |
| InterPro Term |
Paired_box_N, Homeobox, Pax7 |
| Ensembl Family |
ENSFM00360000109860 |
| Ensembl Family Description |
PAIRED BOX PAX |
| Description |
paired box 3 [Source:HGNC Symbol;Acc:8617] |
| EMBL-Bank ID |
AK291278, S83614, U12263, U12262, U12260, U12259, U12258, Z29974, Z29973, Z29972, BC063547, BC114363, X15043, X15253, X15252, S69370, CH471063, S69369, AC010980, BC101299, BC101300, BC101301, BC101302, L10614, AC012591 |
| HGNC Symbol |
PAX3 |
| RefSeq ID |
NM_001127366, NM_181459, NM_181458, NM_181457, NM_181460, NM_181461, NP_852126, NP_852125, NP_852123, NP_852124, NP_852122, NP_000429, NM_000438, NM_013942, NP_039230, NP_001120838 |
| Ensembl Gene ID |
ENSG00000135903 |
| Ensembl Protein ID |
ENSP00000342092, ENSP00000375922, ENSP00000375921, ENSP00000258387, ENSP00000386750, ENSP00000386817, ENSP00000343052, ENSP00000338767, ENSP00000450926, ENSP00000452282 |
| UniProt Accession |
Q494Z4, Q494Z3, P23760 |
| Entrez Gene ID |
5077 |
| UniGene ID |
Hs.42146 |
| Gene-Disease Assocation |
CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS, RHABDOMYOSARCOMA 2; RMS2, WAARDENBURG SYNDROME, TYPE 1; WS1, WAARDENBURG SYNDROME, TYPE 3; WS3 |
| Ensembl Transcript ID |
ENST00000350526, ENST00000336840, ENST00000555548, ENST00000392070, ENST00000392069, ENST00000258387, ENST00000409551, ENST00000409828, ENST00000344493, ENST00000464706 |
| Design Element |
S69369_at, ENST00000409828, S69370_s_at, U12259_cds2_s_at, 38900_at, ENST00000336840, Hs.42146.0.A1_3p_at, 216059_at, 1345_s_at, ENST00000258387, ENST00000464706, ENST00000392069, Hs.198.2.S1_3p_at, g6654637_3p_a_at, 231666_at, 45189_at, g6654637_3p_at, 1344_at, 207679_at, ENST00000344493, ENST00000555548, 61426_at, ENST00000350526, ENST00000409551, ENST00000392070, 207680_x_at |
| Search EB-eye |
ENSG00000135903
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