Gene Gene information from NCBI Gene database.
Entrez ID 5455
Gene name POU class 3 homeobox 3
Gene symbol POU3F3
Synonyms (NCBI Gene)
BRN1OTF8SNIBFISbrain-1oct-8
Chromosome 2
Chromosome location 2q12.1
Summary This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefS
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs1158292126 G>T Pathogenic Missense variant, coding sequence variant
rs1424499058 C>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant
rs1553426462 AGCGGCGCATCAAGC>- Likely-pathogenic Coding sequence variant, inframe deletion
rs1553426479 G>- Likely-pathogenic Frameshift variant, coding sequence variant
rs1573319752 GA>T Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
858
miRTarBase ID miRNA Experiments Reference
MIRT682961 hsa-miR-877-3p HITS-CLIP 23706177
MIRT499329 hsa-miR-6087 HITS-CLIP 23706177
MIRT499327 hsa-miR-658 HITS-CLIP 23706177
MIRT499328 hsa-miR-604 HITS-CLIP 23706177
MIRT488557 hsa-miR-1909-3p HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
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: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
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602480 9216 ENSG00000198914
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20264
Protein name POU domain, class 3, transcription factor 3 (Brain-specific homeobox/POU domain protein 1) (Brain-1) (Brn-1) (Octamer-binding protein 8) (Oct-8) (Octamer-binding transcription factor 8) (OTF-8)
Protein function Transcription factor that acts synergistically with SOX11 and SOX4. Plays a role in neuronal development (PubMed:31303265). Is implicated in an enhancer activity at the embryonic met-mesencephalic junction; the enhancer element contains the octa
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00157 Pou 317 388 Pou domain - N-terminal to homeobox domain Domain
PF00046 Homeodomain 407 463 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Brain. {ECO:0000305|PubMed:31303265}.
Sequence
MATAASNPYLPGNSLLAAGSIVHSDAAGAGGGGGGGGGGGGGGAGGGGGGMQPGSAAVTS
GAYRGDPSSVKMVQSDFMQGAMAASNGGHMLSHAHQWVTALPHAAAAAAAAAAAAVEASS
PWSGSAVGMAGSPQQPPQPPPPPPQGPDVKGGAGRDDLHAGTALHHRGPPHLGPPPPPPH
QGHPGGWGAAAAAAAAAAAAAAAAHLPSMAGGQQPPPQSLLYSQPGGFTVNGMLSAPPGP
GGGGGGAGGGAQSLVHPGLVRGDTPELAEHHHHHHHHAHPHPPHPHHAQGPPHHGGGGGG
AGPGLNSHDPHSDEDTPTSDDLEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTI
CRFEALQLSFKNMCKLKPLLNKWLEEAD
SSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGA
LESHFLKCPKPSAQEITNLADSLQLEKEVVRVWFCNRRQKEKR
MTPPGIQQQTPDDVYSQ
VGTVSADTPPPHHGLQTSVQ
Sequence length 500
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
59
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Pathogenic rs2466874333 RCV003127339
Intellectual disability Pathogenic rs2466876820 RCV002286559
Snijders blok-fisher syndrome Pathogenic; Likely pathogenic rs2104340954, rs2104341046, rs2104341097, rs2104340694, rs2104340970, rs2104341000, rs2104340988, rs2466877069, rs2466876690, rs2466876904, rs2466876570, rs2466875718, rs2466874287, rs2466875541, rs2466874873
View all (9 more)
RCV001527642
RCV001733847
RCV001808901
RCV002250255
RCV002250256
RCV002255779
RCV002266566
RCV002284042
RCV002286322
RCV002286456
RCV002294546
RCV002463576
RCV003127340
RCV003316889
RCV003990310
RCV000852338
RCV000852339
RCV000852340
RCV000852341
RCV000852342
RCV000852343
RCV000995845
RCV001254103
RCV001264412
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental abnormality Likely benign rs1288967379 RCV001264703
POU3F3-related disorder Uncertain significance; Likely benign; Benign rs2104339935, rs2466874282, rs2466876482, rs1262829833, rs762770245, rs867028851, rs754300848, rs1188828047, rs2104341046, rs200554113, rs186512421, rs202016096, rs1363750134 RCV004731248
RCV003408645
RCV003421020
RCV003392816
RCV003929113
RCV003929114
RCV003921844
RCV003899822
RCV003904061
RCV003907264
RCV003979392
RCV003959011
RCV003967061
See cases Uncertain significance rs1480915600 RCV002252551
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 32615948
Apraxias Associate 31303265
Brain Diseases Associate 31303265
Carcinoma Non Small Cell Lung Associate 32615948
Carcinoma Renal Cell Associate 34352801
Developmental Disabilities Associate 31303265
Esophageal Neoplasms Associate 34275926
Esophageal Squamous Cell Carcinoma Associate 25366138, 32615948, 34352801
Esophageal Squamous Cell Carcinoma Stimulate 27855375, 30602452
Glioma Associate 28338200