Gene Gene information from NCBI Gene database.
Entrez ID 5013
Gene name Orthodenticle homeobox 1
Gene symbol OTX1
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p15
Summary This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mouse is required for
miRNA miRNA information provided by mirtarbase database.
243
miRTarBase ID miRNA Experiments Reference
MIRT020057 hsa-miR-375 Microarray 20215506
MIRT509250 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT509249 hsa-miR-455-5p HITS-CLIP 21572407
MIRT509248 hsa-miR-511-3p HITS-CLIP 21572407
MIRT509247 hsa-miR-1537-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
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
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 18849347
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600036 8521 ENSG00000115507
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P32242
Protein name Homeobox protein OTX1 (Orthodenticle homolog 1)
Protein function Probably plays a role in the development of the brain and the sense organs. Can bind to the 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 178 279 Otx1 transcription factor Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain. Detected in the anterior part of the neural fetal retina (at protein level). {ECO:0000269|PubMed:19414065}.
Sequence
MMSYLKQPPYGMNGLGLAGPAMDLLHPSVGYPATPRKQRRERTTFTRSQLDVLEALFAKT
RYPDIFMREEVALKINLPESRVQVWFKNRRAKCRQ
QQQSGSGTKSRPAKKKSSPVRESSG
SESSGQFTPPAVSSSASSSSSASSSSANPAAAAAAGLGGNPVAAASSLSTPAASSIWSPA
SISPGSAPASVSVPEPLAAPSNTSCMQRSVAAGAATAAASYPMSYGQGGSYGQGYPTPSS
SYFGGVDCSSYLAPMHSHHHPHQLSPMAPSSMAGHHHHH
PHAHHPLSQSSGHHHHHHHHH
HQGYGGSGLAFNSADCLDYKEPGAAAASSAWKLNFNSPDCLDYKDQASWRFQVL
Sequence length 354
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Signaling pathways regulating pluripotency of stem cells  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OTX1-related disorder Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 28348423, 30882801
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 30797919
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 21750575 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 21750575
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 21750575
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 21750575 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Exstrophy and Epispadias Complex Bladder Exstrophy And Epispadias Complex BEFREE 25203062
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 28049011
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21478910
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt lymphoma Pubtator 19893048 Stimulate
★☆☆☆☆
Found in Text Mining only