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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608669 30988 ENSG00000173068
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

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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Actinic keratosis Actinic keratosis N/A N/A GWAS
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Carcinoma Basal cell carcinoma, Squamous cell carcinoma N/A N/A GWAS
Congenital Posterior Urethral Valves posterior urethral valve N/A N/A GenCC
Associations from Text Mining Disease 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