Gene Gene information from NCBI Gene database.
Entrez ID 5090
Gene name PBX homeobox 3
Gene symbol PBX3
Synonyms (NCBI Gene)
-
Chromosome 9
Chromosome location 9q33.3
miRNA miRNA information provided by mirtarbase database.
379
miRTarBase ID miRNA Experiments Reference
MIRT007194 hsa-miR-495-3p ImmunoblotImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot 23132946
MIRT007194 hsa-miR-495-3p ImmunoblotImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot 23132946
MIRT016146 hsa-miR-615-3p Sequencing 20371350
MIRT028007 hsa-miR-93-5p Sequencing 20371350
MIRT029508 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator 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
176312 8634 ENSG00000167081
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P40426
Protein name Pre-B-cell leukemia transcription factor 3 (Homeobox protein PBX3)
Protein function Transcriptional activator that binds the sequence 5'-ATCAATCAA-3'.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03792 PBC 43 234 PBC domain Family
PF00046 Homeodomain 236 295 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed.
Sequence
MDDQSRMLQTLAGVNLAGHSVQGGMALPPPPHGHEGADGDGRKQDIGDILHQIMTITDQS
LDEAQAKKHALNCHRMKPALFSVLCEIKEKTGLSIRGAQEEDPPDPQLMRLDNMLLAEGV
SGPEKGGGSAAAAAAAAASGGSSDNSIEHSDYRAKLTQIRQIYHTELEKYEQACNEFTTH
VMNLLREQSRTRPISPKEIERMVGIIHRKFSSIQMQLKQSTCEAVMILRSRFLD
ARRKRR
NFSKQATEILNEYFYSHLSNPYPSEEAKEELAKKCSITVSQVSNWFGNKRIRYKK
NIGKF
QEEANLYAAKTAVTAAHAVAAAVQNNQTNSPTTPNSGSSGSFNLPNSGDMFMNMQSLNGD
SYQGSQVGANVQSQVDTLRHVINQTGGYSDGLGGNSLYSPHNLNANGGWQDATTPSSVTS
PTEGPGSVHSDTSN
Sequence length 434
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Transcriptional misregulation in cancer  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
X-linked cone-rod dystrophy Likely pathogenic rs2538917440, rs2538917443, rs2538470959 RCV003128109
RCV003128110
RCV003128111
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Astrocytoma Associate 23161775
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 28791367, 35414770, 35906698
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Associate 35906698
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 26420065, 27285759, 30765768, 35509064
★☆☆☆☆
Found in Text Mining only
Cell Transformation Neoplastic Stimulate 37781025
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 25561793, 31140752, 33015777, 37781025
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Associate 32449803
★☆☆☆☆
Found in Text Mining only
Glioma Associate 28934982
★☆☆☆☆
Found in Text Mining only
Heart Defects Congenital Associate 22426282
★☆☆☆☆
Found in Text Mining only
Hematuria Benign Familial Stimulate 32047817
★☆☆☆☆
Found in Text Mining only