Gene Gene information from NCBI Gene database.
Entrez ID 5454
Gene name POU class 3 homeobox 2
Gene symbol POU3F2
Synonyms (NCBI Gene)
BRN2N-Oct3OCT7OTF-7OTF7POUF3brn-2oct-7
Chromosome 6
Chromosome location 6q16.1
Summary This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is
miRNA miRNA information provided by mirtarbase database.
140
miRTarBase ID miRNA Experiments Reference
MIRT006355 hsa-miR-211-5p Luciferase reporter assayWestern blot 21435193
MIRT006355 hsa-miR-211-5p Luciferase reporter assayWestern blot 21435193
MIRT006355 hsa-miR-211-5p Luciferase reporter assayWestern blot 21435193
MIRT006355 hsa-miR-211-5p Luciferase reporter assayWestern blot 21435193
MIRT006355 hsa-miR-211-5p Luciferase reporter assayWestern blot 21435193
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SOX9 Repression 15896776
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
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 IEA
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
600494 9215 ENSG00000184486
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20265
Protein name POU domain, class 3, transcription factor 2 (Brain-specific homeobox/POU domain protein 2) (Brain-2) (Brn-2) (Nervous system-specific octamer-binding transcription factor N-Oct-3) (Octamer-binding protein 7) (Oct-7) (Octamer-binding transcription factor 7
Protein function Transcription factor that plays a key role in neuronal differentiation (By similarity). Binds preferentially to the recognition sequence which consists of two distinct half-sites, ('GCAT') and ('TAAT'), separated by a non-conserved spacer region
PDB 7XRC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00157 Pou 265 336 Pou domain - N-terminal to homeobox domain Domain
PF00046 Homeodomain 355 411 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed specifically in the neuroectodermal cell lineage.
Sequence
MATAASNHYSLLTSSASIVHAEPPGGMQQGAGGYREAQSLVQGDYGALQSNGHPLSHAHQ
WITALSHGGGGGGGGGGGGGGGGGGGGGDGSPWSTSPLGQPDIKPSVVVQQGGRGDELHG
PGALQQQHQQQQQQQQQQQQQQQQQQQQQRPPHLVHHAANHHPGPGAWRSAAAAAHLPPS
MGASNGGLLYSQPSFTVNGMLGAGGQPAGLHHHGLRDAHDEPHHADHHPHPHSHPHQQPP
PPPPPQGPPGHPGAHHDPHSDEDTPTSDDLEQFAKQFKQRRIKLGFTQADVGLALGTLYG
NVFSQTTICRFEALQLSFKNMCKLKPLLNKWLEEAD
SSSGSPTSIDKIAAQGRKRKKRTS
IEVSVKGALESHFLKCPKPSAQEITSLADSLQLEKEVVRVWFCNRRQKEKR
MTPPGGTLP
GAEDVYGGSRDTPPHHGVQTPVQ
Sequence length 443
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    EGR2 and SOX10-mediated initiation of Schwann cell myelination
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
POU3F2-associated disorder Likely pathogenic rs1769989432 RCV001254102
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
POU3F2-related disorder Uncertain significance; Likely benign rs560285896, rs1344904623, rs369383182, rs1554212728, rs371685985 RCV003402542
RCV003914718
RCV003911712
RCV003956712
RCV003964775
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute cholinergic dysautonomia Associate 29453933
Atrial Fibrillation Associate 32478689
Autism Spectrum Disorder Associate 21915259, 27378147, 33539344
Bipolar Disorder Associate 21915259, 24618891, 30545964, 30772379
Breast Neoplasms Associate 33492284, 37596527
Central Nervous System Diseases Associate 36791193
Diabetes Mellitus Associate 36978091
Glioblastoma Associate 24601786, 24726434, 26020805, 27852622, 29773872, 30497369, 34282187
Glycosuria Renal Associate 36978091
Heart Diseases Associate 32664164