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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
75
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Lower Urinary Tract Obstruction Pathogenic rs1563774686, rs1350162888 RCV000760297
RCV000762797
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lower urinary tract obstruction, congenital Pathogenic rs1563774686, rs1350162888 RCV000852368
RCV000852367
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 26211971, 28342042, 29549362
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 24406073
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma GWASCAT_DG 25918132
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Barrett Esophagus Barrett esophagus BEFREE 19670330
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 19670330 Associate
★☆☆☆☆
Found in Text Mining only
Bedwetting Nocturnal enuresis HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 37536977 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 26821013 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 17173689 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26821013 Inhibit
★☆☆☆☆
Found in Text Mining only