BNC2 - basonuclin 2 Gene

Homo sapiens

Also known as BSN2; LUTO

Gene ID: 54796 | Gene type: protein coding

About BNC2

Cytogenetic location: 9p22.3-p22.2 Genomic coordinates (GRCh38): 9:16,409,503-16,870,670 (from NCBI)

This gene has 16 transcripts (splice variants), 217 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in endometrium (RPKM 6.6), ovary (RPKM 5.5) and 13 other tissues.

Summary

This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]

BNC2 Products(3)

mRNA	Protein	Name
NM_001317939.2	NP_001304868.1	zinc finger protein basonuclin-2 isoform 2
NM_001317940.2	NP_001304869.1	zinc finger protein basonuclin-2 isoform 3
NM_017637.6	NP_060107.3	zinc finger protein basonuclin-2 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BNC2 Protein Structure

zf-met

zf-C2H2_4

zf-C2H2

0
200
400
600
800
1000
1099 a.a.

Protein Preferred Names

Protein Names

zinc finger protein basonuclin-2

Related Diseases

Diseases

Alias

Lower Urinary Tract Obstruction, Congenital

LUTO

Posterior Urethral Valves

Posterior Urethral Valve	Congenital Posterior Urethral Valves
Puv

Urinary Tract Obstruction

Obstructive Uropathy	Urinary Obstruction
Urologic Diseases

Idiopathic Scoliosis

Scoliosis Idiopathic

Scoliosis

Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency

Favism	Favism, Susceptibility To
Hemolytic Anemia, G6pd Deficient	Class I Glucose-6-Phosphate Dehydrogenase Deficiency
Class I G6pd Deficiency	Severe Hemolytic Anemia Due To G6pd Deficiency
Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency	NSHA
G6pd Deficient Hemolytic Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01561	BNC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BNC2	VGNC	VGNC:56936
Macaca mulatta	BNC2	VGNC	VGNC:70448
Mus musculus	BNC2	MGD	MGI:2443805
Felis catus	BNC2	VGNC	VGNC:60142
Rattus norvegicus	BNC2	RGD	RGD:1310694
Canis familiaris	BNC2	VGNC	VGNC:38491

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