Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5015
Gene name Gene Name - the full gene name approved by the HGNC.
Orthodenticle homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OTX2
Synonyms (NCBI Gene) Gene synonyms aliases
CPHD6, MCOPS5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CPHD6, MCOPS5
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influen
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894464 G>A,C Pathogenic Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs104894465 A>G,T Pathogenic Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs147896150 C>G,T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, non coding transcript variant
rs370761964 T>C Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs397514463 C>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025137 hsa-miR-181a-5p Microarray 17612493
MIRT734581 hsa-miR-183-3p Immunofluorescence, qRT-PCR 31885884
MIRT1208293 hsa-miR-2276 CLIP-seq
MIRT1208294 hsa-miR-3143 CLIP-seq
MIRT1208295 hsa-miR-4272 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 12559959
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600037 8522 ENSG00000165588
Protein
UniProt ID P32243
Protein name Homeobox protein OTX2 (Orthodenticle homolog 2)
Protein function Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 39 95 Homeodomain Domain
PF03529 TF_Otx 153 234 Otx1 transcription factor Family
Sequence
MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPATPRKQRRERTTFTRAQLDVLEALFAKT
RYPDIFMREEVALKINLPESRVQVWFKNRRAKCRQ
QQQQQQNGGQNKVRPAKKKTSPARE
VSSESGTSGQFTPPSSTSVPTIASSSAPVSIWSPASISPLSDPLSTSSSCMQRSYPMTYT
QASGYSQGYAGSTSYFGGMDCGSYLTPMHHQLPGPGATLSPMGTNAVTSHLNQS
PASLST
QGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQTSSWKFQVL
Sequence length 289
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Macular dystrophy, patterned Butterfly-shaped pigment dystrophy, Butterfly-shaped pigmentary macular dystrophy rs121918563, rs61755789, rs61755792, rs61748429, rs672601326, rs61755786, rs61755771, rs61755781, rs61755801, rs61755802, rs61755803, rs869320696, rs869320697, rs886037913, rs121918567
View all (4 more)
25293953
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Unknown
Disease term Disease name Evidence References Source
Isolated Microphthalmia-Anophthalmia-Coloboma isolated anophthalmia-microphthalmia syndrome GenCC
Pituitary Hormone Deficiency combined pituitary hormone deficiencies, genetic form GenCC
Macular dystrophy patterned macular dystrophy GenCC
Neuroticism Neuroticism GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 22143938
Allergic Fungal Sinusitis Associate 21177983
Amaurosis congenita of Leber type 1 Associate 40294858
Anophthalmia with pulmonary hypoplasia Associate 20486942, 22204637
Anophthalmos Associate 20486942, 21203406, 22204637, 25457163, 26130484, 30268123
Atrophy Stimulate 40294858
Branchio Oto Renal Syndrome Associate 18666230
Branchiootic syndrome Associate 18666230
Chorioretinitis Associate 25457163
Coloboma Associate 26130484