MCID: PRS114
MIFTS: 22

Prostate Cancer, Hereditary, 2

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

Aliases & Classifications for Prostate Cancer, Hereditary, 2

MalaCards integrated aliases for Prostate Cancer, Hereditary, 2:

Name: Prostate Cancer, Hereditary, 2 53 71 28 69
Prostate Cancer, Hereditary, 2, Susceptibility to 53 13
Hpc2 53 71
Familial Prostate Cancer 2 71

Classifications:



External Ids:

OMIM 53 614731
MeSH 41 D011471
UMLS 69 C3539120

Summaries for Prostate Cancer, Hereditary, 2

UniProtKB/Swiss-Prot : 71 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 prostatitis and prostate cancer. An important gene associated with Prostate Cancer, Hereditary, 2 is ELAC2 (ElaC Ribonuclease Z 2). Affiliated tissues include prostate.

Description 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

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 28 ELAC2

Anatomical Context for Prostate Cancer, Hereditary, 2

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

38
Prostate

Publications for Prostate Cancer, Hereditary, 2

Articles related to Prostate Cancer, Hereditary, 2:

# Title Authors Year
1
The novel monoclonal antibody HPC2 and N-cadherin distinguish pancreatic ductal adenocarcinoma from cholangiocarcinoma. ( 22406361 )
2012
2
The PcG protein hPc2 interacts with the N-terminus of histone demethylase JARID1B and acts as a transcriptional co-repressor. ( 19336002 )
2009
3
HPC2 and ubinuclein define a novel family of histone chaperones conserved throughout eukaryotes. ( 19225618 )
2009
4
DNA methyltransferase 3B acts as a co-repressor of the human polycomb protein hPc2 to repress fibroblast growth factor receptor 3 transcription. ( 18567530 )
2008
5
The PcG protein HPC2 inhibits RBP-J-mediated transcription by interacting with LIM protein KyoT2. ( 15710417 )
2005
6
MLL repression domain interacts with histone deacetylases, the polycomb group proteins HPC2 and BMI-1, and the corepressor C-terminal-binding protein. ( 12829790 )
2003
7
Association of common missense changes in ELAC2 (HPC2) with prostate cancer in a Japanese case-control series. ( 12522685 )
2002
8
Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer. ( 12515253 )
2002
9
HPC2 variants and screen-detected prostate cancer. ( 11254449 )
2001
10
Interference with the expression of a novel human polycomb protein, hPc2, results in cellular transformation and apoptosis. ( 9315667 )
1997

Variations for Prostate Cancer, Hereditary, 2

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

71
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELAC2 NM_018127.6(ELAC2): c.1641_1642insG (p.His548Alafs) insertion Pathogenic rs387906327 GRCh37 Chromosome 17, 12899882: 12899882

Cosmic variations for Prostate Cancer, Hereditary, 2:

9 (show top 50) (show all 217)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM1675924 WT1 prostate,NS,carcinoma,adenocarcinoma c.790C>G p.Q264E 7
2 COSM6005603 TSC2 prostate,NS,carcinoma,adenocarcinoma c.472G>A p.E158K 7
3 COSM6005601 TSC2 prostate,NS,carcinoma,adenocarcinoma c.392C>A p.P131H 7
4 COSM3212813 TSC1 prostate,NS,carcinoma,adenocarcinoma c.3100G>T p.G1034C 7
5 COSM3212858 TSC1 prostate,NS,carcinoma,adenocarcinoma c.439G>T p.G147W 7
6 COSM45103 TP53 prostate,NS,carcinoma,adenocarcinoma c.492G>A p.K164K 7
7 COSM13165 TP53 prostate,NS,carcinoma,adenocarcinoma c.800G>T p.R267L 7
8 COSM43906 TP53 prostate,NS,carcinoma,adenocarcinoma c.843C>A p.D281E 7
9 COSM43592 TP53 prostate,NS,carcinoma,adenocarcinoma c.395A>T p.K132M 7
10 COSM44135 TP53 prostate,NS,carcinoma,adenocarcinoma c.724T>G p.C242G 7
11 COSM11224 TP53 prostate,NS,carcinoma,adenocarcinoma c.394A>C p.K132Q 7
12 COSM43665 TP53 prostate,NS,carcinoma,adenocarcinoma c.746G>C p.R249T 7
13 COSM45032 TP53 prostate,NS,carcinoma,adenocarcinoma c.710T>G p.M237R 7
14 COSM10662 TP53 prostate,NS,carcinoma,adenocarcinoma c.743G>A p.R248Q 7
15 COSM44823 TP53 prostate,NS,carcinoma,adenocarcinoma c.981T>G p.Y327* 7
16 COSM45620 TP53 prostate,NS,carcinoma,adenocarcinoma c.704A>C p.N235T 7
17 COSM44431 TP53 prostate,NS,carcinoma,adenocarcinoma c.505A>G p.M169V 7
18 COSM12193 TP53 prostate,NS,carcinoma,adenocarcinoma c.668C>T p.P223L 7
19 COSM10828 TP53 prostate,NS,carcinoma,adenocarcinoma c.785G>A p.G262D 7
20 COSM10659 TP53 prostate,NS,carcinoma,adenocarcinoma c.817C>T p.R273C 7
21 COSM10656 TP53 prostate,NS,carcinoma,adenocarcinoma c.742C>T p.R248W 7
22 COSM11524 TP53 prostate,NS,carcinoma,adenocarcinoma c.730G>T p.G244C 7
23 COSM45623 TP53 prostate,NS,carcinoma,adenocarcinoma c.703A>C p.N235H 7
24 COSM44137 TP53 prostate,NS,carcinoma,adenocarcinoma c.434T>A p.L145Q 7
25 COSM10646 TP53 prostate,NS,carcinoma,adenocarcinoma c.725G>A p.C242Y 7
26 COSM10724 TP53 prostate,NS,carcinoma,adenocarcinoma c.839G>C p.R280T 7
27 COSM44388 TP53 prostate,NS,carcinoma,adenocarcinoma c.853G>T p.E285* 7
28 COSM10731 TP53 prostate,NS,carcinoma,adenocarcinoma c.707A>G p.Y236C 7
29 COSM6932 TP53 prostate,NS,carcinoma,adenocarcinoma c.733G>A p.G245S 7
30 COSM45870 TP53 prostate,NS,carcinoma,adenocarcinoma c.715A>T p.N239Y 7
31 COSM45622 TP53 prostate,NS,carcinoma,adenocarcinoma c.461G>A p.G154D 7
32 COSM44126 TP53 prostate,NS,carcinoma,adenocarcinoma c.507G>A p.M169I 7
33 COSM43956 TP53 prostate,NS,carcinoma,adenocarcinoma c.700T>A p.Y234N 7
34 COSM44299 TP53 prostate,NS,carcinoma,adenocarcinoma c.501G>A p.Q167Q 7
35 COSM10704 TP53 prostate,NS,carcinoma,adenocarcinoma c.844C>T p.R282W 7
36 COSM44996 TP53 prostate,NS,carcinoma,adenocarcinoma c.515T>C p.V172A 7
37 COSM10905 TP53 prostate,NS,carcinoma,adenocarcinoma c.451C>T p.P151S 7
38 COSM11287 TP53 prostate,NS,carcinoma,adenocarcinoma c.839G>T p.R280I 7
39 COSM10738 TP53 prostate,NS,carcinoma,adenocarcinoma c.542G>A p.R181H 7
40 COSM10672 TP53 prostate,NS,carcinoma,adenocarcinoma c.577C>T p.H193Y 7
41 COSM10808 TP53 prostate,NS,carcinoma,adenocarcinoma c.488A>G p.Y163C 7
42 COSM5708976 TET2 prostate,NS,carcinoma,adenocarcinoma c.5669A>G p.N1890S 7
43 COSM5413594 SUFU prostate,NS,carcinoma,adenocarcinoma c.50C>T p.A17V 7
44 COSM6005723 STAT5B prostate,NS,carcinoma,adenocarcinoma c.1529C>T p.A510V 7
45 COSM6005724 STAT5B prostate,NS,carcinoma,adenocarcinoma c.1025T>C p.L342P 7
46 COSM6005721 SRC prostate,NS,carcinoma,adenocarcinoma c.1116+4A>T p.? 7
47 COSM220066 SPOP prostate,NS,carcinoma,adenocarcinoma c.305T>G p.F102C 7
48 COSM95272 SPOP prostate,NS,carcinoma,adenocarcinoma c.399C>G p.F133L 7
49 COSM241746 SPOP prostate,NS,carcinoma,adenocarcinoma c.260A>C p.Y87S 7
50 COSM2769699 SMO prostate,NS,carcinoma,adenocarcinoma c.817T>C p.C273R 7

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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41 MeSH
42 MESH via Orphanet
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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