BNC2 gene

basonuclin 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes (PubMed:14988505). May also play an important role in early urinary-tract development (PubMed:31051115).

From NCBI Gene:

  • LOWER URINARY TRACT OBSTRUCTION, CONGENITAL

From UniProt:

Lower urinary tract obstruction, congenital (LUTO): A disorder characterized by urinary bladder outflow obstruction, which can represent an anatomical blockage or a functional obstruction. The most common anatomical causes are posterior urethral valves at the level of the prostatic urethra, a lesion unique to males. Less common are anterior urethral valves, also called urethral atresia, that can occur in either sex. LUTO is an autosomal dominant disease with variable expression. [MIM:618612]

Cytogenetic Location: 9p22.3-p22.2, which is the short (p) arm of chromosome 9 between positions 22.3 and 22.2

Molecular Location: base pairs 16,409,503 to 16,870,670 on chromosome 9 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 9p22.3-p22.2, which is the short (p) arm of chromosome 9 between positions 22.3 and 22.2
  • BSN2
  • LUTO