Entrez ID	Official symbol	Synonyms	Description	Location	Type of protein	External annotation
5458	POU4F2	BRN3.2, BRN3B, Brn-3b	POU class 4 homeobox 2	4q31.22	protein-coding	Genecard

uniprot_summary

refseq_summary

DNA-binding transcriptional regulator and coregulator that recognizes and binds to the consensus octamer binding site 5-AT[A/T]A[T/A]T[A/T]A-3 in promoter of target genes (PubMed:19266028, PubMed:23805044). Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor ISL1 to achieve RGC fate specification in the developing retina. Plays also a role in RGC axon formation and guidance by regulating gene expression of specific target genes. Plays a role in TNFSF11-mediated terminal osteoclast differentiation. Binds chromatin at promoter region of target genes.|Isoform 1: Acts either as a transcriptional activator or repressor (PubMed:19266028, PubMed:23805044). Negatively regulates transcriptional activity of homeobox domain transcriptional factors DLX1 and DLX2, and hence prevents DLX1- and DLX2-mediated ability to promote amacrine cells specification. Involved in the positive regulation of the transcriptional factor PAX6 expression through its binding to the neuroretina-specific enhancer in neuroretina cells. Mediates positive transcriptional regulation of heat shock protein HSPB1 expression in cardiac myocytes. Positively regulates POU4F1 expression by interacting directly with a highly conserved autoregulatory domain surrounding the transcription initiation site of the POU4F1 gene promoter. Plays a role in the regulation of breast cancer cell growth by promoting transcription activation as well as repression of specific target genes. Involved in tumor breast progression and invasion (By similarity). Stimulates the promoter activity of the GTP-binding protein RIT2 gene containing the octamer binding site in retinal ganglion cells (PubMed:23805044). Plays also a role either as a transcriptional coactivator or corepressor. Transcriptional coactivator cooperating with transcription factors ISL1 and ISL2 to potentiate transcriptional activation of retinal ganglion cell (RGC) target genes. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to the octamer motif. Binds to the octamer binding site to form a ternary complex with ISL1 in promoter of target genes.|Isoform 2: Acts either as a transcriptional activator or repressor (PubMed:23805044). Stimulates the promoter activity of the neuronal nicotinic acetylcholine receptor alpha CHRNA2. Negatively regulates the apoptosis regulator BAX promoter activity. Inhibits promoter activity of the neuronal intermediate filament protein alpha-internexin INA gene. Plays a role in the regulation of breast cancer cell growth by promoting transcription activation as well as repression of specific target genes. Involved in tumor breast progression and invasion (By similarity). Inhibits the promoter activity of the GTP-binding protein RIT2 gene containing the octamer binding site in retinal ganglion cells (PubMed:23805044). Plays also a role either as transcriptional coactivator or corepressor. Transcriptional coactivator cooperating with transcription factors TP53 to potentiate transcriptional activation of BAX promoter activity, and hence increases neuronal cell apoptosis. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to the octamer motif. Acts also as a transcriptional coactivator via its interaction with the transcription factor ESR1.

The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth.

Flase

Caregory	Description	Value	Value range ( Low - High )	Comment
PLI	The probability of being loss-of-function (LoF) intolerant	0.18	[0, ..., 1]	Genes with high pLI scores (pLI ≥ 0.9) are extremely LoF intolerant, whereby genes with low pLI scores (pLI ≤ 0.1) are LoF tolerant. The score is calculated based on high-quality exome sequence data (ExAC) for 60,706 individuals of diverse ethnicities.
Haploinsufficiency (HI) score rank	Predicted probability of exhibiting haploinsufficiency		[100, ..., 1]	High ranks (e.g. 0-10%) indicate a gene is more likely to exhibit haploinsufficiency, low ranks (e.g. 90-100%) indicate a gene is more likely to NOT exhibit haploinsufficiency (DECIPHER, PMID: 20976243). haploinsufficiency means a single functional copy of a gene is insufficient to maintain its normal function and is extremely intolerant of LoF variation.
Gene brain expressed	Queried gene is expressed in brain tissues	Flase	[False, True]	The gene expression data are extracted from GTEx v7 and BrainSpan. A gene with the expression value of (log 2 based (TPM+1)) at least 1 TPM/RPKM/FPKM in one or more tissues related to the brain is considered brain-expressed.
Protein brain expressed	Queried protein is expressed in brain tissues	[False, True]	The protein expression data are extracted from ProteomicsDB (v2018.09). A protein with the expression value of (log based 10 (iBAQ intensity)) at least 0.5 in one or more tissues related to the brain is considered brain-expressed protein.
Carrying LoF DNMs	Number of loss-of-function DNMs hit the queried gene	0 (Case)	[0, ..., 67] with average of 0.160	Loss of function (LoF) mutations include frameshift indels, nonsense (stop-gained) and splice-site mutations, which can result in the gene product having less or no function and can have deleterious consequences.
		0 (Control)	[0, ..., 6] with average of 0.044
Carrying missense DNMs	Number of missense DNMs hit the queried gene	1 (Case)	[0, ..., 55] with average of 0.846	Missense mutations can result in changes in protein sequences, but are commonly considered to have less deleterious impacts than LoF mutations.
		0 (Control)	[0, ..., 21] with average of 0.300
FMRP binding targets	FMRP inteacting parters	False	[False, True]	FMRP loss of function causes Fragile X syndrome (FXS). The binding targets identified crosslinking immunoprecipitation (HITS-CLIP) in mouse brains (PMID:21784246). Many FMRP targets are among genes implicated in different neuropsychiatric diseases, such as autism, schizophrenia.
Postsynaptic density (PSD)	Protein associates with postsynaptic membranes of excitatory synapses	False	[False, True]	Abnormalities with PSD proteins are linked to various neuropsychiatric diseases including neurodevelopmental disorders.
Human essential genes	-	False	[False, True]	Genes are thought to be critical for human survival.