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FLASH GENE

Symbol

POU3F2

contributors: mct/shn - updated : 05-07-2023

HGNC name	POU class 3 homeobox 2
HGNC id	9215

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NDDOTSA neurodevelopmental delay (NDD), obesity and autism spectrum disorder
Location	6q16.1      Physical location : 99.282.579 - 99.286.665
Synonym name	POU domain, class 3, transcription factor 2
	brain-2
	brain-specific homeobox/POU domain protein 2
	nervous system-specific octamer-binding transcription factor N-Oct-3
	octamer-binding protein 7
	octamer-binding transcription factor 7
Synonym symbol(s)	BRN2, POUF3, OCT7, OTF7, N-Oct 3

DNA

TYPE	functioning gene
STRUCTURE	4.09 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D6S1284 - D6S1716 - POU3F2 - D6S1717 - D6S1565 - qter
Authors	UCSC (2009)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005604 1 - 4885 NP_005595 46.9 443 - 2023 37207645

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain diencephalon hypothalamus     Homo sapiens   brain       moderately Mus musculus Adult   brain limbic system hippocampus     Homo sapiens   brain forebrain       Homo sapiens Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Homo sapiens

cell lineage
cell lines	expressed in melanocytes
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a POU-specific domain
	an homeobox DNA-binding domain

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies	ortholog to Pou3f2, Mus musculus
	ortholog to Pou3f2, Rattus norvegicus
	ortholog to pou3f2, Danio rerio
	ortholog to POU3F2, Pan troglodytes

intraspecies

paralog to POU3F3

Homologene

FAMILY	POU transcription factor family
	Class-3 subfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	positively regulating the genes under the control of corticotropin-releasing hormone (CRM) and CRM II promoters
	playing a role in mammalian neurogenesis by regulating their diverse patterns of gene expression
	BRN2 and its phosphorylation are involved in the migration and proliferation of cells of the melanocyte lineage
	POU3F3 and POU3F2 (Brn1 and Brn2) are known to label postmitotic upper-layer cells, and are redundantly required for their production
	important for hypothalamic development and function, and controls oxytocin expression in the hypothalamic neuroendocrine preoptic area
	plays an important role in brain development
	is involved in cognitive function as well as adult hippocampal neurogenesis, and homopolymeric amino acid repeats in this gene play a functional role
	importance of POU3F2 and MITF expression in development of melanoma metastasis (PMI: 28883623)
	POU3F2, serving as an upstream factor, controls specification and differentiation of ganglionic eminences

CELLULAR PROCESS	cell life, proliferation/growth
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development , nervous system

text	neuronal development
	positive regulation of cell proliferation

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding prefenrentially to the recognition sequence consisting of two distinct half sites (GCAT and TAAT), separated by a non-conserved spacer region of 0 or 2 or 3 nucleotides
	binding to the octamer sequence ATGCAAAT

RNA

small molecule

protein	class III POU factor Brn-4
	PQBP1
	POU3F2, POU3F3 influence multiple stages of neurogenesis by suppressing Notch effector HES5, and promoting the expression of proneural transcription factors EOMES and TBR1
	in the astrocyte lineage, ZBTB20 directly represses the expression of POU3F2, which encodes a protein necessary for upper-layer neuron specification
	POU3F2 binds to the NTF3 promoter during neuronal differentiation
	act downstream of SIM1 and interacts with the leptin and melanocortin pathway

cell & other

REGULATION

repressed by

PQBP1

Phosphorylated by

PKA

ASSOCIATED DISORDERS

corresponding disease(s)

NDDOTSA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

BRN2AA transgene in a Mitf heterozygous background and in a Pax3 mutant background enhanced the coat color phenotype