|
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 |
|
|
| 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, rs201353309, rs367562679, rs138108118, rs760334910, rs191305289, rs372862527, rs73415418, rs4961490, rs146566771, rs114612810, rs149867299 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 |
| Hypotension |
Likely benign; not provided; Benign; Uncertain significance |
rs483353010, rs483353011, rs148873573, rs117470554, rs145011045, rs483353012, rs114596065, rs62540608, rs138187836, rs376030025, rs3739715, rs189895388, rs117452684, rs41268965, rs35005898, rs143821778, rs149019822, rs76485966, rs114964332, rs77464990 View all (5 more) |
RCV000190254 RCV000190255 RCV000190256 RCV000190257 RCV000190258 RCV000190259 RCV000190260 RCV000190261 RCV000190262 RCV000190263 RCV000190264 RCV000190265 RCV000190266 RCV000190267 RCV000190268 RCV000190269 RCV000190270 RCV000190271 RCV000190272 RCV000190273 |
| Lung cancer |
Benign |
rs148873573 |
RCV005887829 |
| Malignant tumor of esophagus |
Benign |
rs148873573 |
RCV005887819 |
| Nonpapillary renal cell carcinoma |
Benign |
rs148873573 |
RCV005887820 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs148873573 |
RCV005887825 |
| Sarcoma |
Benign |
rs148873573 |
RCV005887824 |
| Thymoma |
Benign |
rs148873573 |
RCV005887826 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs148873573 |
RCV005887827 |
| Uveal melanoma |
Benign |
rs148873573 |
RCV005887823 |
|
|
|