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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LUTO
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:0000976 Function Transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0003416 Process Endochondral bone growth IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA 21873635
GO:0005654 Component Nucleoplasm IDA
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
19875614
Hypertension Hypertensive disease rs13306026
Kidney disease Chronic kidney disease stage 5 rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Ovarian cancer Malignant neoplasm of ovary rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828
View all (31 more)
19648919, 20852632
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 25918132, 24406073 ClinVar
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 26634245 ClinVar
Renal dysplasia Unilateral renal dysplasia ClinVar
Congenital Posterior Urethral Valves posterior urethral valve GenCC
Associations from Text Mining
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