POU3F3 (POU class 3 homeobox 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5455
Gene name Gene Name - the full gene name approved by the HGNC.
POU class 3 homeobox 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POU3F3
Synonyms (NCBI Gene) Gene synonyms aliases
BRN1, OTF8, SNIBFIS, brain-1, oct-8
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SNIBFIS
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(29)
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: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
GO:0003700 Function DNA-binding transcription factor activity TAS 8703082
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602480 9216 ENSG00000198914
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
CRFEALQLSFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGA
LESHFLKCPKPSAQEITNLADSLQLEKEVVRVWFCNRRQKEKRMTPPGIQQQTPDDVYSQ
VGTVSADTPPPHHGLQTSVQ
Sequence length 500
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 17568789
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)		 24550763
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)		 24550763
Mental retardation Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)		 24550763, 31303265
Show/Hide Text Mining Associations (16)
Associations from Text Mining
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