Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
57646
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Ubiquitin specific peptidase 28 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
USP28 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
- |
Chromosome
Chromosome number
|
11 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
11q23.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a deubiquitinase involved in the DNA damage pathway and DNA damage-induced apoptosis. Overexpression of this gene is seen in several cancers. [provided by RefSeq, Oct 2016] |
UniProt ID |
Q96RU2
|
Protein name |
Ubiquitin carboxyl-terminal hydrolase 28 (EC 3.4.19.12) (Deubiquitinating enzyme 28) (Ubiquitin thioesterase 28) (Ubiquitin-specific-processing protease 28) |
Protein function |
Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damag |
PDB |
2LVA
,
2MUU
,
6H4H
,
6H4I
,
6HEH
,
6HEI
,
6HEJ
,
6HEK
,
7TUO
,
8HJE
,
8P14
,
8P19
,
8P1P
,
8P1Q
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00443
|
UCH |
162 → 647 |
Ubiquitin carboxyl-terminal hydrolase |
Family |
|
Sequence |
|
Sequence length |
1077 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Breast carcinoma |
Breast Carcinoma |
rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 View all (71 more) |
29059683 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29662167, 29610475 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
Atrial Fibrillation |
Atrial Fibrillation |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Breast Neoplasms |
Associate
|
24075993, 25656529, 27212032 |
Carcinogenesis |
Associate
|
32578360, 32927708 |
Carcinoma Hepatocellular |
Associate
|
32053284, 37450415 |
Carcinoma Non Small Cell Lung |
Stimulate
|
25656529 |
Carcinoma Squamous Cell |
Associate
|
34611298 |
Colorectal Neoplasms |
Associate
|
32578360 |
Colorectal Neoplasms |
Stimulate
|
34106567 |
Fanconi Anemia |
Associate
|
34611298 |
Glioma |
Associate
|
37713468 |
Hypoxia |
Inhibit
|
28515325 |
Melanoma |
Associate
|
37450415 |
Neoplasm Metastasis |
Associate
|
22144179 |
Neoplasms |
Associate
|
24075993, 24347490, 25656529, 30543854, 30926243, 32578360, 32927708, 34106567, 34822842, 34962618, 37450415 |
Neoplasms |
Inhibit
|
29089421, 38547292 |
Neoplasms Germ Cell and Embryonal |
Associate
|
38430549 |
Neoplasms Squamous Cell |
Associate
|
34611298 |
Neuhauser syndrome |
Associate
|
37450415 |
Neuroblastoma |
Associate
|
37230388 |
Rothmund Thomson Syndrome |
Associate
|
34473993 |
Tetraploidy |
Associate
|
34962618 |
Triple Negative Breast Neoplasms |
Associate
|
34822842 |
Urinary Bladder Neoplasms |
Associate
|
24347490 |
|