|
Gene id |
54796 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
BNC2 Gene UCSC Ensembl |
|
Aliases |
BSN2 |
|
Gene name |
basonuclin 2 |
|
Alternate names |
zinc finger protein basonuclin-2, |
|
Gene location |
9p22.3-p22.2 (16832349: 16409502) Exons: 8 NC_000002.12
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
608669 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Cancer (ovarian) | GAD: 19648919 |
| Diabetes | GAD: 19875614 |
| Required for proper mitotic arrest, prevention of premature meiotic initiation and meiotic progression | MIK: 25344072 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 25344072 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 25344072 |
Required f
or proper
mitotic ar
rest, prev
ention of
premature
meiotic in
itiation a
nd meiotic
progressi
on
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|