Gene Gene information from NCBI Gene database.
Entrez ID 54796
Gene name Basonuclin zinc finger protein 2
Gene symbol BNC2
Synonyms (NCBI Gene)
BSN2LUTObn2
Chromosome 9
Chromosome location 9p22.3-p22.2
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 scolios
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1350162888 G>A Pathogenic Stop gained, intron variant, coding sequence variant
rs1563774686 T>C Pathogenic Coding sequence variant, missense variant, 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
1169
miRTarBase ID miRNA Experiments Reference
MIRT029290 hsa-miR-26b-5p Microarray 19088304
MIRT051162 hsa-miR-16-5p CLASH 23622248
MIRT480748 hsa-miR-6758-5p HITS-CLIP 23706177
MIRT480747 hsa-miR-6856-5p HITS-CLIP 23706177
MIRT480746 hsa-miR-185-5p HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000182 Function RDNA binding IEA
GO:0000785 Component Chromatin IEA
GO:0001650 Component Fibrillar center IDA
GO:0003416 Process Endochondral bone growth IEA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608669 30988 ENSG00000173068
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF12874 zf-met 441 462 Domain
PF00096 zf-C2H2 1035 1058 Zinc finger, C2H2 type Domain
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
MAHLGPTPPPHSLNYKSEDRLSEQDWPAYFKVPCCGVDTSQIESEEAEVDVRERETQRDR
EPKRARDLTLRDSCTDNSMQFGTRTTTAEPGFMGTWQNADTNLLFRMSQQAIRCTLVNCT
CECFQPGKINLRTCDQCKHGWVAHALDKLSTQHLYHPTQVEIVQSNVVFDISSLMLYGTQ
AVPVRLKILLDRLFSVLKQEEVLHILHGLGWTLRDYVRGYILQDAAGKVLDRWAIMSREE
EIITLQQFLRFGETKSIVELMAIQEKEGQAVAVPSSKTDSDIRTFIESNNRTRSPSLLAH
LENSNPSSIHHFENIPNSLAFLLPFQYINPVSAPLLGLPPNGLLLEQPGLRLREPSLSTQ
NEYNESSESEVSPTPYKNDQTPNRNALTSITNVEPKTEPACVSPIQNSAPVSDLTKTEHP
KSSFRIHRMRRMGSASRKGRVFCNACGKTFYDKGTLKIHYNAVHLKIKHRCTIEGCNMVF
SSLRSRNRHSANPNPRLHMPMLRNNRDKDLIRATSGAATPVIASTKSNLALTSPGRPPMG
FTTPPLDPVLQNPLPSQLVFSGLKTVQPVPPFYRSLLTPGEMVSPPTSLPTSPIIPTSGT
IEQHPPPPSEPVVPAVMMATHEPSADLAPKKKPRKSSMPVKIEKEIIDTADEFDDEDDDP
NDGGAVVNDMSHDNHCHSQEEMSPGMSVKDFSKHNRTRCISRTEIRRADSMTSEDQEPER
DYENESESSEPKLGEESMEGDEHIHSEVSEKVLMNSERPDENHSEPSHQDVIKVKEEFTD
PTYDMFYMSQYGLYNGGGASMAALHESFTSSLNYGSPQKFSPEGDLCSSPDPKICYVCKK
SFKSSYSVKLHYRNVHLKEMHVCTVAGCNAAFPSRRSRDRHSANINLHRKLLTKELDDMG
LDSSQPSLSKDLRDEFLVKIYGAQHPMGLDVREDASSPAGTEDSHLNGYGRGMAEDYMVL
DLSTTSSLQSSSSIHSSRESDAGSDEGILLDDIDGASDSGESAHKAEAPALPGSLGAEVS
GSLMFSSLSGSNGGIMCNICHKMYSNKGTLRVHYKTVHLREMHKCKVPGCNMMFSSVRSR
NRHSQNPNLHKNIPFTSVD
Sequence length 1099
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
74
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lower Urinary Tract Obstruction Pathogenic rs1563774686, rs1350162888 RCV000760297
RCV000762797
Lower urinary tract obstruction, congenital Pathogenic rs1563774686, rs1350162888 RCV000852368
RCV000852367
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BNC2-related disorder Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs483353010, rs148873573, rs62540608, rs117452684, rs41268965, rs77464990, rs2130847008, rs147575972, rs3739714, rs145916043, rs145645768, rs148257304, rs143280183, rs138887153, rs2547719780
View all (11 more)
RCV003925101
RCV003935086
RCV003915118
RCV003974999
RCV003905088
RCV003915119
RCV004752057
RCV003923392
RCV003978879
RCV003926521
RCV003926540
RCV003973590
RCV003906424
RCV004750854
RCV003412078
RCV003402465
RCV003414213
RCV003939067
RCV003894575
RCV003904184
RCV003954638
RCV003961433
RCV003960697
RCV003935903
RCV003905842
RCV003955797
Cervical cancer Benign rs148873573 RCV005887821
Clear cell carcinoma of kidney Benign rs148873573 RCV005887822
Germ cell tumor of testis Benign rs148873573 RCV005887828
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 19670330
Barrett Esophagus Associate 19670330
Breast Neoplasms Associate 37536977
Carcinogenesis Associate 26821013
Carcinoma Basal Cell Associate 17173689
Carcinoma Hepatocellular Inhibit 26821013
Carcinoma Ovarian Epithelial Associate 24853948
Carcinoma Squamous Cell Associate 27424798
COVID 19 Associate 33945677
Developmental Defects of Enamel Associate 37536977