HPC2
MCID: PRS114
MIFTS: 33

Prostate Cancer, Hereditary, 2 (HPC2)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Prostate Cancer, Hereditary, 2

MalaCards integrated aliases for Prostate Cancer, Hereditary, 2:

Name: Prostate Cancer, Hereditary, 2 57 72 29 6 70
Prostate Cancer, Hereditary, 2, Susceptibility to 57 13
Hpc2 57 72
Cancer, Prostate, Hereditary, Type 2 39
Familial Prostate Cancer 2 72

Classifications:



External Ids:

OMIM® 57 614731
MeSH 44 D011471
UMLS 70 C3539120

Summaries for Prostate Cancer, Hereditary, 2

UniProtKB/Swiss-Prot : 72 Prostate cancer, hereditary, 2: A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma.

MalaCards based summary : Prostate Cancer, Hereditary, 2, also known as prostate cancer, hereditary, 2, susceptibility to, is related to prostate cancer and prostate cancer, hereditary, 1. An important gene associated with Prostate Cancer, Hereditary, 2 is ELAC2 (ElaC Ribonuclease Z 2). Affiliated tissues include prostate, thyroid and brain.

More information from OMIM: 614731

Related Diseases for Prostate Cancer, Hereditary, 2

Graphical network of the top 20 diseases related to Prostate Cancer, Hereditary, 2:



Diseases related to Prostate Cancer, Hereditary, 2

Symptoms & Phenotypes for Prostate Cancer, Hereditary, 2

Clinical features from OMIM®:

614731 (Updated 05-Apr-2021)

Drugs & Therapeutics for Prostate Cancer, Hereditary, 2

Search Clinical Trials , NIH Clinical Center for Prostate Cancer, Hereditary, 2

Genetic Tests for Prostate Cancer, Hereditary, 2

Genetic tests related to Prostate Cancer, Hereditary, 2:

# Genetic test Affiliating Genes
1 Prostate Cancer, Hereditary, 2 29 ELAC2

Anatomical Context for Prostate Cancer, Hereditary, 2

MalaCards organs/tissues related to Prostate Cancer, Hereditary, 2:

40
Prostate, Thyroid, Brain, Breast

Publications for Prostate Cancer, Hereditary, 2

Articles related to Prostate Cancer, Hereditary, 2:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer. 61 57 6
12515253 2002
2
Association of HPC2/ELAC2 genotypes and prostate cancer. 61 57 6
10986046 2000
3
A candidate prostate cancer susceptibility gene at chromosome 17p. 57 6
11175785 2001
4
Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series. 6 61
12522685 2002
5
Role of HPC2/ELAC2 in hereditary prostate cancer. 61 57
11522646 2001
6
ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer. 61 6
11507049 2001
7
HPC2 variants and screen-detected prostate cancer. 61 57
11254449 2001
8
Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer. 61 57
11254448 2001
9
ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago. 57
12384782 2002
10
A Study of Ser217Leu and Ala541Thr Polymorphism in the Men Afflicted with Prostate Cancer and in the Men being Suspicious of Prostate Cancer. 61
32592348 2020
11
Culture of Mesenchymal Stem Cells in a Hydrogel Model of Vocal Fold Lamina Propria. 61
33184606 2019
12
The HIRA histone chaperone complex subunit UBN1 harbors H3/H4- and DNA-binding activity. 61
31040182 2019
13
Mouse acute leukemia develops independent of self-renewal and differentiation potentials in hematopoietic stem and progenitor cells. 61
30733302 2019
14
Prevalence of the Ser217Leu Variant of the ELAC2 Gene and Its Association with Prostate Cancer in Population of the Littoral Region of Cameroon. 61
31321101 2019
15
Arsenate-mediated G2 cell cycle arrest in U-2OS cells involves phosphorylation of human polycomb protein 2 by p38 MAPK. 61
30317550 2018
16
A Genome-Wide Screen Reveals a Role for the HIR Histone Chaperone Complex in Preventing Mislocalization of Budding Yeast CENP-A. 61
30012561 2018
17
The Hsp72 and Hsp90α mRNA Responses to Hot Downhill Running Are Reduced Following a Prior Bout of Hot Downhill Running, and Occur Concurrently within Leukocytes and the Vastus Lateralis. 61
28747888 2017
18
Lung Cancer-Targeting Peptides with Multi-subtype Indication for Combinational Drug Delivery and Molecular Imaging. 61
28529640 2017
19
Conformational dynamics of Ca2+-dependent responses in the polycystin-2 C-terminal tail. 61
26574436 2016
20
Ubinuclein-1 confers histone H3.3-specific-binding by the HIRA histone chaperone complex. 61
26159857 2015
21
Oligomerization of the polycystin-2 C-terminal tail and effects on its Ca2+-binding properties. 61
25716316 2015
22
The number and location of EF hand motifs dictates the calcium dependence of polycystin-2 function. 61
24558196 2014
23
[Hereditary prostate cancer]. 61
24864115 2014
24
Genetic analysis of the principal genes related to prostate cancer: a review. 61
23141781 2013
25
SUMOylation negatively modulates target gene occupancy of the KDM5B, a histone lysine demethylase. 61
23970103 2013
26
A global requirement for the HIR complex in the assembly of chromatin. 61
24459729 2013
27
Drosophila Yemanuclein and HIRA cooperate for de novo assembly of H3.3-containing nucleosomes in the male pronucleus. 61
23408912 2013
28
Human pancreatic cancer fusion 2 (HPC2) 1-B3: a novel monoclonal antibody to screen for pancreatic ductal dysplasia. 61
22811080 2013
29
The novel monoclonal antibody HPC2 and N-cadherin distinguish pancreatic ductal adenocarcinoma from cholangiocarcinoma. 61
22406361 2012
30
Small ubiquitin-like modifier (SUMO) modification of zinc finger protein 131 potentiates its negative effect on estrogen signaling. 61
22467880 2012
31
Identification of an ubinuclein 1 region required for stability and function of the human HIRA/UBN1/CABIN1/ASF1a histone H3.3 chaperone complex. 61
22401310 2012
32
Phosphate disruption and metal toxicity in Saccharomyces cerevisiae: effects of RAD23 and the histone chaperone HPC2. 61
22281500 2012
33
The mitotic Clb cyclins are required to alleviate HIR-mediated repression of the yeast histone genes at the G1/S transition. 61
21978826 2012
34
Effects of hen production cycle and egg weight on egg quality and composition, hatchability, duckling quality, and first-week body weight in Pekin ducks. 61
22010253 2011
35
Separation-of-function mutation in HPC2, a member of the HIR complex in S. cerevisiae, results in derepression of the histone genes but does not confer cryptic TATA phenotypes. 61
21782987 2011
36
Polymorphisms of HPC2/ELAC2 and SRD5A2 (5α-Reductase Type II) Genes in Prostate Cancer. 61
24052700 2011
37
Human Polycomb protein 2 promotes α-synuclein aggregate formation through covalent SUMOylation. 61
21256122 2011
38
Associations of polymorphisms in HPC2/ELAC2 and SRD5A2 genes with benign prostate hyperplasia in Turkish men. 61
21627373 2011
39
A single mutation results in diploid gamete formation and parthenogenesis in a Drosophila yemanuclein-alpha meiosis I defective mutant. 61
21080953 2010
40
Silencing mediated by the Schizosaccharomyces pombe HIRA complex is dependent upon the Hpc2-like protein, Hip4. 61
20976105 2010
41
ELAC2 polymorphisms and prostate cancer risk: a meta-analysis based on 18 case-control studies. 61
20231859 2010
42
Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men. 61
20086112 2010
43
SUMO-dependent regulation of centrin-2. 61
19706679 2009
44
Gemcitabine-based chemogene therapy for pancreatic cancer using Ad-dCK::UMK GDEPT and TS/RR siRNA strategies. 61
19568409 2009
45
The PcG protein hPc2 interacts with the N-terminus of histone demethylase JARID1B and acts as a transcriptional co-repressor. 61
19336002 2009
46
HPC2 and ubinuclein define a novel family of histone chaperones conserved throughout eukaryotes. 61
19225618 2009
47
Human UBN1 is an ortholog of yeast Hpc2p and has an essential role in the HIRA/ASF1a chromatin-remodeling pathway in senescent cells. 61
19029251 2009
48
Association of HPC2/ELAC2 and RNASEL non-synonymous variants with prostate cancer risk in African American familial and sporadic cases. 61
18767027 2008
49
DNA methyltransferase 3B acts as a co-repressor of the human polycomb protein hPc2 to repress fibroblast growth factor receptor 3 transcription. 61
18567530 2008
50
Human polycomb 2 protein is a SUMO E3 ligase and alleviates substrate-induced inhibition of cystathionine beta-synthase sumoylation. 61
19107218 2008

Variations for Prostate Cancer, Hereditary, 2

ClinVar genetic disease variations for Prostate Cancer, Hereditary, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELAC2 NM_018127.6(ELAC2):c.1641dup (p.His548Alafs) Duplication Pathogenic 5057 rs387906327 GRCh37: 17:12899881-12899882
GRCh38: 17:12996564-12996565
2 ELAC2 NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val) SNV Pathogenic 5059 rs119484087 GRCh37: 17:12898323-12898323
GRCh38: 17:12995006-12995006
3 ELAC2 NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) SNV Pathogenic 5055 rs4792311 GRCh37: 17:12915009-12915009
GRCh38: 17:13011692-13011692
4 ELAC2 NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) SNV Pathogenic 5056 rs5030739 GRCh37: 17:12899902-12899902
GRCh38: 17:12996585-12996585
5 ELAC2 NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) SNV Pathogenic 5058 rs119484086 GRCh37: 17:12896274-12896274
GRCh38: 17:12992957-12992957
6 ELAC2 NM_018127.7(ELAC2):c.1698+1G>C SNV Uncertain significance 225347 rs1085307065 GRCh37: 17:12899256-12899256
GRCh38: 17:12995939-12995939

UniProtKB/Swiss-Prot genetic disease variations for Prostate Cancer, Hereditary, 2:

72
# Symbol AA change Variation ID SNP ID
1 ELAC2 p.Arg211Gln VAR_017425 rs148419785
2 ELAC2 p.Ser217Leu VAR_017426 rs4792311
3 ELAC2 p.Gly487Arg VAR_017427 rs752234492
4 ELAC2 p.Ala541Thr VAR_017428 rs5030739
5 ELAC2 p.Glu622Val VAR_017429 rs119484087
6 ELAC2 p.Arg781His VAR_017431 rs119484086
7 ELAC2 p.Gly806Arg VAR_017432 rs770669443

Cosmic variations for Prostate Cancer, Hereditary, 2:

9 (show top 50) (show all 7592)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87273255 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.8849G>A p.R2950H 16:72793833-72793833 15
2 COSM87278310 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.5650G>T p.E1884* 16:72797032-72797032 15
3 COSM102023521 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.598C>T p.R200* 16:72889839-72889839 15
4 COSM102020948 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.791C>A p.S264* 16:72812035-72812035 15
5 COSM102027229 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.2908G>T p.E970* 16:72797032-72797032 15
6 COSM149310968 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.5893C>T p.Q1965* 16:72796789-72796789 15
7 COSM87289963 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.2728G>A p.E910K 16:72950957-72950957 15
8 COSM87277276 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.2986A>T p.K996* 16:72950699-72950699 15
9 COSM102022171 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.6107G>A p.R2036H 16:72793833-72793833 15
10 COSM102025889 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.244A>T p.K82* 16:72950699-72950699 15
11 COSM149331699 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.5114C>G p.S1705* 16:72797568-72797568 15
12 COSM87287233 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.4819C>T p.Q1607* 16:72797863-72797863 15
13 COSM87296500 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.5114C>G p.S1705* 16:72797568-72797568 15
14 COSM149269669 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.3340C>T p.R1114* 16:72889839-72889839 15
15 COSM87271970 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.3533C>A p.S1178* 16:72812035-72812035 15
16 COSM149281678 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.5650G>T p.E1884* 16:72797032-72797032 15
17 COSM149265910 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.8849G>A p.R2950H 16:72793833-72793833 15
18 COSM87274612 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.3340C>T p.R1114* 16:72889839-72889839 15
19 COSM102031608 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.-23-8776C>G p.? 16:72959741-72959741 15
20 COSM149307401 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.4819C>T p.Q1607* 16:72797863-72797863 15
21 COSM87288892 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.5893C>T p.Q1965* 16:72796789-72796789 15
22 COSM149287761 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.6445C>T p.R2149C 16:72796237-72796237 15
23 COSM102037736 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.2077C>T p.Q693* 16:72797863-72797863 15
24 COSM149262752 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.3533C>A p.S1178* 16:72812035-72812035 15
25 COSM87281944 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.405C>G p.Y135* 16:72959741-72959741 15
26 COSM102047721 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.2372C>G p.S791* 16:72797568-72797568 15
27 COSM102029776 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.3703C>T p.R1235C 16:72796237-72796237 15
28 COSM87280241 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.6445C>T p.R2149C 16:72796237-72796237 15
29 COSM149314230 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.2728G>A p.E910K 16:72950957-72950957 15
30 COSM149278210 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.2986A>T p.K996* 16:72950699-72950699 15
31 COSM102039151 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.3151C>T p.Q1051* 16:72796789-72796789 15
32 COSM102040223 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.-15G>A p.? 16:72950957-72950957 15
33 COSM149292073 ZFHX3 prostate,NS,carcinoma,adenocarcinoma c.405C>G p.Y135* 16:72959741-72959741 15
34 COSM89894202 YES1 prostate,NS,carcinoma,adenocarcinoma c.119C>G p.S40* 18:756709-756709 15
35 COSM136834926 YES1 prostate,NS,carcinoma,adenocarcinoma c.590-1G>T p.? 18:745858-745858 15
36 COSM152021810 YES1 prostate,NS,carcinoma,adenocarcinoma c.575-1G>T p.? 18:745858-745858 15
37 COSM152022004 YES1 prostate,NS,carcinoma,adenocarcinoma c.119C>G p.S40* 18:756709-756709 15
38 COSM136836036 YES1 prostate,NS,carcinoma,adenocarcinoma c.134C>G p.S45* 18:756709-756709 15
39 COSM89892790 YES1 prostate,NS,carcinoma,adenocarcinoma c.575-1G>T p.? 18:745858-745858 15
40 COSM104882949 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1259T>C p.M420T 2:61493040-61493040 15
41 COSM104239299 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1384G>T p.V462F 2:61492915-61492915 15
42 COSM101975701 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1711G>A p.E571K 2:61492337-61492337 15
43 COSM101977073 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1259T>C p.M420T 2:61493040-61493040 15
44 COSM101976154 XPO1 prostate,NS,carcinoma,adenocarcinoma c.2468T>G p.F823C 2:61485808-61485808 15
45 COSM104881227 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1711G>A p.E571K 2:61492337-61492337 15
46 COSM104238027 XPO1 prostate,NS,carcinoma,adenocarcinoma c.3101T>G p.F1034C 2:61478935-61478935 15
47 COSM104236414 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1259T>C p.M420T 2:61493040-61493040 15
48 COSM101979599 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1384G>T p.V462F 2:61492915-61492915 15
49 COSM101981883 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1098T>A p.F366L 2:61494041-61494041 15
50 COSM104888806 XPO1 prostate,NS,carcinoma,adenocarcinoma c.1098T>A p.F366L 2:61494041-61494041 15

Expression for Prostate Cancer, Hereditary, 2

Search GEO for disease gene expression data for Prostate Cancer, Hereditary, 2.

Pathways for Prostate Cancer, Hereditary, 2

GO Terms for Prostate Cancer, Hereditary, 2

Sources for Prostate Cancer, Hereditary, 2

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