GLM2
MCID: GLM025
MIFTS: 30

Glioma Susceptibility 2 (GLM2)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glioma Susceptibility 2

MalaCards integrated aliases for Glioma Susceptibility 2:

Name: Glioma Susceptibility 2 57 29 13 6
Glm2 57 72
Glioma, Susceptibility, Type 2 39
Glioma 2 72

Classifications:



External Ids:

OMIM® 57 613028
OMIM Phenotypic Series 57 PS137800
MeSH 44 D005910
MedGen 41 C2751642

Summaries for Glioma Susceptibility 2

UniProtKB/Swiss-Prot : 72 Glioma 2: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.

MalaCards based summary : Glioma Susceptibility 2, also known as glm2, is related to meningioma, familial and glioma. An important gene associated with Glioma Susceptibility 2 is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include eye and brain.

More information from OMIM: 613028 PS137800

Related Diseases for Glioma Susceptibility 2

Graphical network of the top 20 diseases related to Glioma Susceptibility 2:



Diseases related to Glioma Susceptibility 2

Symptoms & Phenotypes for Glioma Susceptibility 2

Clinical features from OMIM®:

613028 (Updated 20-May-2021)

Drugs & Therapeutics for Glioma Susceptibility 2

Search Clinical Trials , NIH Clinical Center for Glioma Susceptibility 2

Genetic Tests for Glioma Susceptibility 2

Genetic tests related to Glioma Susceptibility 2:

# Genetic test Affiliating Genes
1 Glioma Susceptibility 2 29 PTEN

Anatomical Context for Glioma Susceptibility 2

MalaCards organs/tissues related to Glioma Susceptibility 2:

40
Eye, Brain

Publications for Glioma Susceptibility 2

Articles related to Glioma Susceptibility 2:

# Title Authors PMID Year
1
A novel germline mutation of PTEN associated with brain tumours of multiple lineages. 6 57
12085208 2002
2
Improving the sensitivity of EEG-fMRI studies of epileptic activity by modelling eye blinks, swallowing and other video-EEG detected physiological confounds. 61
22450296 2012

Variations for Glioma Susceptibility 2

ClinVar genetic disease variations for Glioma Susceptibility 2:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTEN NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) SNV Pathogenic 216987 rs863224909 GRCh37: 10:89720709-89720709
GRCh38: 10:87960952-87960952
2 PTEN NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) SNV Pathogenic 7833 rs121909231 GRCh37: 10:89720852-89720852
GRCh38: 10:87961095-87961095
3 PTEN NM_000314.7(PTEN):c.253+2T>A SNV Pathogenic 468676 rs1224040268 GRCh37: 10:89690848-89690848
GRCh38: 10:87931091-87931091
4 PTEN NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) SNV Pathogenic 189500 rs121913293 GRCh37: 10:89711899-89711899
GRCh38: 10:87952142-87952142
5 PTEN NM_000314.7(PTEN):c.404T>A (p.Ile135Lys) SNV Likely pathogenic 428235 rs370795352 GRCh37: 10:89692920-89692920
GRCh38: 10:87933163-87933163
6 PTEN NM_000314.7(PTEN):c.701G>A (p.Arg234Gln) SNV risk factor 7840 rs121909235 GRCh37: 10:89717676-89717676
GRCh38: 10:87957919-87957919
7 PTEN NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) SNV Uncertain significance 127693 rs143335584 GRCh37: 10:89720731-89720731
GRCh38: 10:87960974-87960974
8 PTEN NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) SNV Uncertain significance 127695 rs371387815 GRCh37: 10:89720741-89720741
GRCh38: 10:87960984-87960984
9 PTEN NM_000314.7(PTEN):c.862G>A (p.Glu288Lys) SNV Uncertain significance 484603 rs1554825528 GRCh37: 10:89720711-89720711
GRCh38: 10:87960954-87960954
10 PTEN NM_000314.7(PTEN):c.-665G>A SNV Uncertain significance 189528 rs553371022 GRCh37: 10:89623561-89623561
GRCh38: 10:87863804-87863804
11 PTEN NM_000314.7(PTEN):c.-764G>A SNV Uncertain significance 7844 rs587776674 GRCh37: 10:89623462-89623462
GRCh38: 10:87863705-87863705
12 PTEN NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) SNV Uncertain significance 127696 rs587780007 GRCh37: 10:89720763-89720763
GRCh38: 10:87961006-87961006
13 PTEN NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) SNV Uncertain significance 41682 rs202004587 GRCh37: 10:89690828-89690828
GRCh38: 10:87931071-87931071
14 PTEN , KLLN NM_001126049.2(KLLN):c.-736G>C SNV Uncertain significance 488964 rs1554889801 GRCh37: 10:89622980-89622980
GRCh38: 10:87863223-87863223
15 PTEN , KLLN NM_001126049.2(KLLN):c.-792C>T SNV Uncertain significance 127663 rs587779982 GRCh37: 10:89623036-89623036
GRCh38: 10:87863279-87863279
16 PTEN , KLLN NM_001126049.2(KLLN):c.-828C>T SNV Uncertain significance 187362 rs786203674 GRCh37: 10:89623072-89623072
GRCh38: 10:87863315-87863315
17 PTEN , KLLN NM_001126049.2(KLLN):c.-1039G>A SNV Uncertain significance 127682 rs587779999 GRCh37: 10:89623283-89623283
GRCh38: 10:87863526-87863526
18 PTEN NM_000314.4(PTEN):c.-868G>C SNV Uncertain significance 141949 rs587782133 GRCh37: 10:89623358-89623358
GRCh38: 10:87863601-87863601
19 PTEN NM_000314.7(PTEN):c.-834C>T SNV Uncertain significance 127676 rs587779994 GRCh37: 10:89623392-89623392
GRCh38: 10:87863635-87863635
20 PTEN NM_000314.7(PTEN):c.-821G>T SNV Uncertain significance 234510 rs587779993 GRCh37: 10:89623405-89623405
GRCh38: 10:87863648-87863648

UniProtKB/Swiss-Prot genetic disease variations for Glioma Susceptibility 2:

72
# Symbol AA change Variation ID SNP ID
1 PTEN p.Arg234Gln VAR_018106 rs121909235

Cosmic variations for Glioma Susceptibility 2:

9 (show top 50) (show all 19971)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM85192834 ZW10 central nervous system,NS,glioma,astrocytoma Grade IV c.2140C>T p.P714S 11:113736699-113736699 3
2 COSM86922763 ZSWIM4 central nervous system,NS,glioma,astrocytoma Grade IV c.266C>T p.P89L 19:13799832-13799832 3
3 COSM88263742 ZRSR2 central nervous system,NS,glioma,astrocytoma Grade IV c.340C>T p.Q114* 23:15804138-15804138 3
4 COSM88261602 ZRSR2 central nervous system,NS,glioma,astrocytoma Grade IV c.961C>T p.P321S 23:15822754-15822754 3
5 COSM88263021 ZRSR2 central nervous system,NS,glioma,astrocytoma Grade IV c.260G>A p.R87K 23:15803744-15803744 3
6 COSM88261596 ZRSR2 central nervous system,NS,glioma,astrocytoma Grade IV c.271G>A p.E91K 23:15803755-15803755 3
7 COSM88262556 ZRSR2 central nervous system,NS,glioma,oligodendroglioma c.220G>A p.E74K 23:15803704-15803704 3
8 COSM87830624 ZPLD1 central nervous system,NS,glioma,astrocytoma Grade IV c.393A>T p.G131= 3:102456210-102456210 3
9 COSM119316158 ZPLD1 central nervous system,NS,glioma,astrocytoma Grade IV c.345A>T p.G115= 3:102456210-102456210 3
10 COSM116178212 ZPLD1 central nervous system,NS,glioma,astrocytoma Grade IV c.345A>T p.G115= 3:102456210-102456210 3
11 COSM106156998 ZNF697 central nervous system,NS,glioma,astrocytoma Grade IV c.1550G>A p.G517D 1:119622793-119622793 3
12 COSM93171584 ZNF687 central nervous system,NS,glioma,astrocytoma Grade IV c.3651C>T p.T1217= 1:151291146-151291146 3
13 COSM93173649 ZNF687 central nervous system,NS,glioma,astrocytoma Grade IV c.2044T>A p.C682S 1:151288335-151288335 3
14 COSM93173639 ZNF687 central nervous system,NS,glioma,astrocytoma Grade IV c.2043G>C p.Q681H 1:151288334-151288334 3
15 COSM92762364 ZNF507 central nervous system,NS,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 3
16 COSM91851905 ZNF507 central nervous system,NS,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 3
17 COSM130988554 ZNF507 central nervous system,NS,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 3
18 COSM141250987 ZNF473 central nervous system,NS,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 3
19 COSM84172269 ZNF473 central nervous system,NS,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 3
20 COSM141790125 ZNF473 central nervous system,NS,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 3
21 COSM99924035 ZNF473 central nervous system,NS,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 3
22 COSM111538647 ZNF473 central nervous system,NS,glioma,astrocytoma Grade IV c.6C>T p.D2= 19:50039193-50039193 3
23 COSM84507966 ZNF276 central nervous system,NS,glioma,astrocytoma Grade IV c.*664G>A p.? 16:89738910-89738910 3
24 COSM102909520 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 3
25 COSM116582422 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 3
26 COSM92864918 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 3
27 COSM111370233 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 3
28 COSM91410147 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 3
29 COSM97055096 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.1913T>G p.V638G 20:47246130-47246130 3
30 COSM112970642 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 3
31 COSM92871777 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 3
32 COSM85475347 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 3
33 COSM143801239 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2041G>A p.D681N 20:47246116-47246116 3
34 COSM114834078 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2087T>G p.V696G 20:47246130-47246130 3
35 COSM114839982 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2101G>A p.D701N 20:47246116-47246116 3
36 COSM91535436 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 3
37 COSM91528627 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2162T>G p.V721G 20:47246130-47246130 3
38 COSM133275210 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.1960G>A p.D654N 20:47246116-47246116 3
39 COSM143618110 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 3
40 COSM111362863 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 3
41 COSM91401933 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 3
42 COSM130874736 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2197G>A p.D733N 20:47246116-47246116 3
43 COSM116576154 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2162T>G p.V721G 20:47246130-47246130 3
44 COSM143862983 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2101G>A p.D701N 20:47246116-47246116 3
45 COSM143796197 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2027T>G p.V676G 20:47246130-47246130 3
46 COSM102902986 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 3
47 COSM133265728 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.1946T>G p.V649G 20:47246130-47246130 3
48 COSM85483642 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 3
49 COSM112964306 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2162T>G p.V721G 20:47246130-47246130 3
50 COSM143856741 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2087T>G p.V696G 20:47246130-47246130 3

Expression for Glioma Susceptibility 2

Search GEO for disease gene expression data for Glioma Susceptibility 2.

Pathways for Glioma Susceptibility 2

GO Terms for Glioma Susceptibility 2

Biological processes related to Glioma Susceptibility 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 8.62 PTEN KLLN

Sources for Glioma Susceptibility 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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