MCID: ACT226
MIFTS: 15

Actg2

Categories: Genetic diseases, Gastrointestinal diseases

Aliases & Classifications for Actg2

MalaCards integrated aliases for Actg2:

Name: Actg2 24

Classifications:



Summaries for Actg2

MalaCards based summary : Actg2 is related to visceral myopathy and intestinal pseudo-obstruction. An important gene associated with Actg2 is ACTG2 (Actin, Gamma 2, Smooth Muscle, Enteric), and among its related pathways/superpathways is PAK Pathway. Affiliated tissues include smooth muscle and small intestine.

Related Diseases for Actg2

Diseases related to Actg2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 visceral myopathy 11.9
2 intestinal pseudo-obstruction 11.3
3 myopathy 11.3
4 peyronie's disease 11.0
5 moved to 155310 10.9
6 actg2-related disorders 10.8
7 chronic intestinal pseudoobstruction 10.7
8 myopathic intestinal pseudoobstruction 10.7
9 endometriosis 9.8
10 polycystic kidney disease 9.8
11 hepatocellular carcinoma 9.8
12 white sponge nevus of cannon, krt13-related 9.5 ACTG2 NOTCH1

Graphical network of the top 20 diseases related to Actg2:



Diseases related to Actg2

Symptoms & Phenotypes for Actg2

Drugs & Therapeutics for Actg2

Genetic Tests for Actg2

Genetic tests related to Actg2:

id Genetic test Affiliating Genes
1 Actg2 24

Anatomical Context for Actg2

MalaCards organs/tissues related to Actg2:

39
Smooth Muscle, Small Intestine

Publications for Actg2

Articles related to Actg2:

id Title Authors Year
1
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. ( 28422808 )
2017
2
Identification of ACTG2 functions as a promoter gene in hepatocellular carcinoma cells migration and tumor metastasis. ( 28385530 )
2017
3
A plausible role for actin gamma smooth muscle 2 (ACTG2) in small intestinal neuroendocrine tumorigenesis. ( 27107594 )
2016
4
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. ( 26813947 )
2016
5
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 26647307 )
2016
6
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. ( 25782675 )
2015
7
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding I^-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). ( 25998219 )
2015
8
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 24676022 )
2014
9
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. ( 24337657 )
2014

Variations for Actg2

Expression for Actg2

Search GEO for disease gene expression data for Actg2.

Pathways for Actg2

Pathways related to Actg2 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.69 ACTG2 NOTCH1

GO Terms for Actg2

Cellular components related to Actg2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell periphery GO:0071944 8.62 ACTG2 NOTCH1

Sources for Actg2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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