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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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
Developmental disorder Pathogenic rs2466874333 RCV003127339
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Pathogenic rs2466876820 RCV002286559
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (19 more)
★★★★★
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
COMPLEX NEURODEVELOPMENTAL DISORDER ClinGen, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY-CUPPED EARS SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality Likely benign ClinVar
★★☆☆☆
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
Apraxias Apraxia Pubtator 31303265 Associate
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism GENOMICS_ENGLAND_DG 24550763
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 31303265 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34352801 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 31252264
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 31252264
★☆☆☆☆
Found in Text Mining only
Creatine deficiency, X-linked Creatine deficiency BEFREE 22472424
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis CTD_human_DG 17568789
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 31303265 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Dysmorphic features Dysmorphic Features CLINVAR_DG 10433239, 11859196, 12130536, 12925600, 1565620, 16505001, 17141158, 18261853, 2044958, 24550763, 26833329, 2739723, 27479843, 28135719, 8156594
View all (3 more)
★☆☆☆☆
Found in Text Mining only