BNC2 (basonuclin zinc finger protein 2)
| Gene | |
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
54796 |
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Basonuclin zinc finger protein 2 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
BNC2 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
BSN2, LUTO, bn2 |
|
Chromosome
Chromosome number
|
9 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
9p22.3-p22.2 |
|
Summary
Summary of gene provided in NCBI Entrez 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 scolios |
|
SNPs
SNP information provided by dbSNP.
|
|||||||||||||
|
|||||||||||||
|
miRNA
miRNA information provided by mirtarbase database.
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|||||||
|
|||||||
| Protein | ||||||||||||||||
| UniProt ID | Q6ZN30 | |||||||||||||||
| Protein name | Zinc finger protein basonuclin-2 | |||||||||||||||
| Protein function | 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). {ECO:000026 | |||||||||||||||
| Family and domains |
Pfam
|
|||||||||||||||
| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in testis, uterus and small intestine, and weakly expressed in colon and prostate. Also expressed in skin, primary keratinocytes, immortalized keratinocytes, and HeLa and HEK293 cells. Not detected in blood, thymus, sp | |||||||||||||||
| Sequence |
|
|||||||||||||||
| Sequence length | 1099 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
|
Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
|
|||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||