Homo sapiens (human): 5015
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Entry
5015 CDS
T01001
Symbol
OTX2, CPHD6, MCOPS5
Name
(RefSeq) orthodenticle homeobox 2
KO
K18490
homeobox protein OTX2
Organism
hsa
Homo sapiens (human)
Disease
H00254
Growth hormone deficiency
H00544
Septo-optic dysplasia
H01667
Medulloblastoma
H02036
Combined pituitary hormone deficiency
H02170
Microphthalmia, syndromic
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03000 Transcription factors [BR:
hsa03000
]
5015 (OTX2)
Transcription factors [BR:
hsa03000
]
Eukaryotic type
Helix-turn-helix
Homeo domain Paired-related
5015 (OTX2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
TF_Otx
Homeodomain
Homeobox_KN
SatD
Motif
Other DBs
NCBI-GeneID:
5015
NCBI-ProteinID:
NP_001257452
OMIM:
600037
HGNC:
8522
Ensembl:
ENSG00000165588
UniProt:
P32243
F1T0D1
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Position
14:complement(56799905..56810479)
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AA seq
289 aa
AA seq
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MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPATPRKQRRERTTFTRAQLDVLEALFAKT
RYPDIFMREEVALKINLPESRVQVWFKNRRAKCRQQQQQQQNGGQNKVRPAKKKTSPARE
VSSESGTSGQFTPPSSTSVPTIASSSAPVSIWSPASISPLSDPLSTSSSCMQRSYPMTYT
QASGYSQGYAGSTSYFGGMDCGSYLTPMHHQLPGPGATLSPMGTNAVTSHLNQSPASLST
QGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQTSSWKFQVL
NT seq
870 nt
NT seq
+upstream
nt +downstream
nt
atgatgtcttatcttaagcaaccgccttacgcagtcaatgggctgagtctgaccacttcg
ggtatggacttgctgcacccctccgtgggctacccggccaccccccggaaacagcgccgg
gagaggacgacgttcactcgggcgcagctagatgtgctggaagcactgtttgccaagacc
cggtacccagacatcttcatgcgagaggaggtggcactgaaaatcaacttgcccgagtcg
agggtgcaggtatggtttaagaatcgaagagctaagtgccgccaacaacagcaacaacag
cagaatggaggtcaaaacaaagtgagacctgccaaaaagaagacatctccagctcgggaa
gtgagttcagagagtggaacaagtggccaattcactcccccctctagcacctcagtcccg
accattgccagcagcagtgctcctgtgtctatctggagcccagcttccatctccccactg
tcagatcccttgtccacctcctcttcctgcatgcagaggtcctatcccatgacctatact
caggcttcaggttatagtcaaggatatgctggctcaacttcctactttgggggcatggac
tgtggatcatatttgacccctatgcatcaccagcttcccggaccaggggccacactcagt
cccatgggtaccaatgcagtcaccagccatctcaatcagtccccagcttctctttccacc
cagggatatggagcttcaagcttgggttttaactcaaccactgattgcttggattataag
gaccaaactgcctcctggaagcttaacttcaatgctgactgcttggattataaagatcag
acatcctcgtggaaattccaggttttgtga
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integrated database retrieval system
