KEGG   Homo sapiens (human): 5015
Entry
5015              CDS       T01001                                 

Gene name
OTX2, CPHD6, MCOPS5
Definition
(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 only, Prd
    5015 (OTX2)
SSDB
Motif
Pfam: TF_Otx Homeodomain NUDE_C SatD
Other DBs
NCBI-GeneID: 5015
NCBI-ProteinID: NP_001257452
OMIM: 600037
HGNC: 8522
Ensembl: ENSG00000165588
Vega: OTTHUMG00000152338
Pharos: P32243(Tbio)
UniProt: P32243 F1T0D1
LinkDB
Position
14q22.3
AA seq 289 aa
MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPATPRKQRRERTTFTRAQLDVLEALFAKT
RYPDIFMREEVALKINLPESRVQVWFKNRRAKCRQQQQQQQNGGQNKVRPAKKKTSPARE
VSSESGTSGQFTPPSSTSVPTIASSSAPVSIWSPASISPLSDPLSTSSSCMQRSYPMTYT
QASGYSQGYAGSTSYFGGMDCGSYLTPMHHQLPGPGATLSPMGTNAVTSHLNQSPASLST
QGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQTSSWKFQVL
NT seq 870 nt   +upstreamnt  +downstreamnt
atgatgtcttatcttaagcaaccgccttacgcagtcaatgggctgagtctgaccacttcg
ggtatggacttgctgcacccctccgtgggctacccggccaccccccggaaacagcgccgg
gagaggacgacgttcactcgggcgcagctagatgtgctggaagcactgtttgccaagacc
cggtacccagacatcttcatgcgagaggaggtggcactgaaaatcaacttgcccgagtcg
agggtgcaggtatggtttaagaatcgaagagctaagtgccgccaacaacagcaacaacag
cagaatggaggtcaaaacaaagtgagacctgccaaaaagaagacatctccagctcgggaa
gtgagttcagagagtggaacaagtggccaattcactcccccctctagcacctcagtcccg
accattgccagcagcagtgctcctgtgtctatctggagcccagcttccatctccccactg
tcagatcccttgtccacctcctcttcctgcatgcagaggtcctatcccatgacctatact
caggcttcaggttatagtcaaggatatgctggctcaacttcctactttgggggcatggac
tgtggatcatatttgacccctatgcatcaccagcttcccggaccaggggccacactcagt
cccatgggtaccaatgcagtcaccagccatctcaatcagtccccagcttctctttccacc
cagggatatggagcttcaagcttgggttttaactcaaccactgattgcttggattataag
gaccaaactgcctcctggaagcttaacttcaatgctgactgcttggattataaagatcag
acatcctcgtggaaattccaggttttgtga

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