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FLASH GENE

Symbol

BNC2

contributors: mct - updated : 12-06-2019

HGNC name	basonuclin 2
HGNC id	30988

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LUTO congenital lower urinary-tract obstruction
Location	9p22.2      Physical location : 16.409.501 - 16.870.786
Synonym symbol(s)	BSN2, FLJ20043, FLJ34928, DKFZp686A01127

DNA

TYPE	functioning gene
STRUCTURE	461.27 kb     7 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	over two thousand transcripts are initiated from six promoters, are alternatively spliced at multiple positions, and are polyadenylated at four sites

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017637 7 - 12926 NP_060107 - 1099 - 2007 16942855 NM_001317939 7 - 12656 NP_001304868 - 861 - 2007 16942855 NM_001317940 6 - 12706 NP_001304869 - 1004 - 2007 16942855

EXPRESSION

Type

widely

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 Digestive intestine       highly Homo sapiens Nervous brain         Homo sapiens   spinal cord         Homo sapiens Reproductive female system uterus       Homo sapiens   male system testis       Homo sapiens Skin/Tegument skin       highly Homo sapiens Urinary kidney       highly Homo sapiens   urethra       highly Homo sapiens Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining epidermis     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive germ cell Homo sapiens Reproductive sperm cell Homo sapiens Reproductive spermatogonia Homo sapiens Skin/Tegument keratinocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three paired zinc fingers, separate pairs of zinc fingers
	a nuclear localization signal
	a serine stripe

HOMOLOGY

interspecies

ortholog to drosophila Disco

intraspecies

paralog to BNC1

Homologene

FAMILY

basonuclin zinc finger family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	confined to the nucleus
	within the male germ cell lineage, BNC2 is restricted to prospermatogonia and undifferentiated spermatogonia
	localization of BNC2 in nuclear speckles and having potential involvement in nuclear processing of mRNA

basic FUNCTION	having an important function, presumably as a regulatory protein of DNA transcription
	may be having a function in nuclear processing of mRNA
	may play an essential role for the multiplication of craniofacial mesenchymal cells during embryogenesis
	is a major regulator of male germ stem cells, which is required for repression of meiosis and mitosis in prospermatogonia, and for meiosis progression during spermatogenesis
	BNC2 plays an important role in early urinary-tract development across different species

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to drosophila Disco

intraspecies

paralog to BNC1

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	confined to the nucleus
	within the male germ cell lineage, BNC2 is restricted to prospermatogonia and undifferentiated spermatogonia
	localization of BNC2 in nuclear speckles and having potential involvement in nuclear processing of mRNA

basic FUNCTION

having an important function, presumably as a regulatory protein of DNA transcription.

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LUTO

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   increased BNC2 expression is implicated in the etiology of Adolescent idiopathic scoliosis (AIS) tumoral     --low   of BNC1 and BNC2 is associated with genetic or epigenetic regulation in hepatocellular carcinoma

Susceptibility

to ovarian cancer to adolescent idiopathic scoliosis (AIS) variation of skin color to facial pigmented spots during aging

Variant & Polymorphism SNP	rs3814113 significantly associated to ovarian cancer
	AIS highly associated SNPs were all in intron 3 of BNC2
	highly conserved region surrounding rs12350739 functions as an enhancer element regulating BNC2 transcription in human melanocytes, while the activity of this enhancer element depends on the allelic status of rs12350739
	genetic variations in BNC2 contribute to the acquired amount of facial pigmented spots during aging, through pathways independent of the basal melanin production
	Rs3814113 is the single-nucleotide polymorphism (SNP) showing the strongest association with high-grade serous ovarian carcinoma

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice lacking basonuclin 2 die within 24 h of birth with a cleft palate and abnormalities of craniofacial bones and tongue
	Bnc2(-/-) mice of both sexes displayed a high frequency of distal urethral defects; heterozygotes showed similar defects with reduced penetrance
	depletion of Bnc2 causes pericardial effusion, hydrocephalus, glomerular cysts, and distal pronephric-outlet obstruction in Zebrafish