AAT2
MCID: ART068
MIFTS: 34

Aortic Aneurysm, Familial Thoracic 2 (AAT2)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 2

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 2:

Name: Aortic Aneurysm, Familial Thoracic 2 57 13 6 70
Aat2 57
Faa2 57

Classifications:



External Ids:

OMIM® 57 607087
OMIM Phenotypic Series 57 PS607086
MedGen 41 C1846837
UMLS 70 C1846837

Summaries for Aortic Aneurysm, Familial Thoracic 2

MalaCards based summary : Aortic Aneurysm, Familial Thoracic 2, also known as aat2, is related to familial thoracic aortic aneurysm and aortic dissection and cerebral arterial disease. An important gene associated with Aortic Aneurysm, Familial Thoracic 2 is ACTA2 (Actin Alpha 2, Smooth Muscle), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include smooth muscle, adipocyte and endothelial, and related phenotypes are cardiovascular system and respiratory system

More information from OMIM: 607087 PS607086

Related Diseases for Aortic Aneurysm, Familial Thoracic 2

Diseases in the Aortic Aneurysm, Familial Thoracic 4 family:

Aortic Aneurysm, Familial Thoracic 1 Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 6 Aortic Aneurysm, Familial Thoracic 7
Aortic Aneurysm, Familial Thoracic 8 Aortic Aneurysm, Familial Thoracic 9
Aortic Aneurysm, Familial Thoracic 10 Aortic Aneurysm, Familial Thoracic 11

Diseases related to Aortic Aneurysm, Familial Thoracic 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 familial thoracic aortic aneurysm and aortic dissection 30.8 SLC2A10 FBN1 COL3A1 ACTA2
2 cerebral arterial disease 10.1 COL3A1 ACTA2
3 familial abdominal aortic aneurysm 10.0 FBN1 COL3A1
4 subclavian artery aneurysm 10.0 SLC2A10 FBN1
5 cutis laxa, autosomal recessive, type ia 10.0 SLC2A10 FBN1
6 autosomal recessive cutis laxa type i 10.0 SLC2A10 FBN1
7 loeys-dietz syndrome 4 10.0 SLC2A10 FBN1
8 collagen disease 10.0 FBN1 COL3A1
9 pelvic organ prolapse 10.0 FBN1 COL3A1
10 marden-walker syndrome 10.0 FBN2 FBN1
11 postural orthostatic tachycardia syndrome 10.0 FBN2 FBN1
12 megacystis-microcolon-intestinal hypoperistalsis syndrome 9.9 FBN2 ACTA2
13 stiff skin syndrome 9.9 FBN2 FBN1
14 acromicric dysplasia 9.9 FBN2 FBN1
15 enophthalmos 9.9 FBN2 FBN1
16 isolated ectopia lentis 9.9 FBN2 FBN1
17 contractural arachnodactyly, congenital 9.9 FBN2 FBN1
18 geleophysic dysplasia 9.9 FBN2 FBN1
19 prune belly syndrome 9.9 FLNA ACTA2
20 cutis laxa, autosomal dominant 1 9.9 SLC2A10 FBN1
21 weill-marchesani syndrome 9.9 FBN2 FBN1
22 heritable thoracic aortic disease 9.8 FBN1 COL3A1 ACTA2
23 bone structure disease 9.8 FBN2 FBN1
24 tracheal stenosis 9.8 FLNA FBN1
25 aortic disease 9.8 FBN1 COL3A1 ACTA2
26 ehlers-danlos syndrome, vascular type 9.8 FBN1 COL3A1 ACTA2
27 tracheal disease 9.8 FLNA FBN1
28 aortic aneurysm, familial abdominal, 1 9.8 FBN1 COL3A1 ACTA2
29 aortic aneurysm, familial thoracic 6 9.8 SLC2A10 FBN1 ACTA2
30 loeys-dietz syndrome 3 9.8 SLC2A10 FBN1 ACTA2
31 loeys-dietz syndrome 1 9.8 SLC2A10 FBN1 ACTA2
32 intracranial aneurysm 9.8 FBN2 COL3A1
33 mitral valve disease 9.7 FLNA FBN1
34 ehlers-danlos syndrome 9.6 FLNA FBN1 COL3A1
35 hydronephrosis 9.6 FLNA FBN1
36 osteochondrodysplasia 9.6 FLNA FBN1 COL3A1
37 aortic aneurysm, familial thoracic 4 9.5 SLC2A10 FBN1 COL3A1 ACTA2
38 ventricular septal defect 9.4 FLNA FBN2
39 patent ductus arteriosus 1 9.4 SLC2A10 FLNA FBN1 ACTA2
40 scoliosis 9.3 FLNA FBN2 FBN1
41 aortic valve insufficiency 9.3 FLNA FBN2 FBN1 ACTA2
42 aortic dissection 9.2 SLC2A10 FBN2 FBN1 COL3A1 ACTA2
43 arterial tortuosity syndrome 9.1 SLC2A10 FLNA FBN1 COL3A1 ACTA2
44 marfan syndrome 9.1 FLNA FBN2 FBN1 COL3A1 ACTA2
45 connective tissue disease 9.0 FLNA FBN2 FBN1 COL3A1 ACTA2
46 tricuspid valve prolapse 9.0 SLC2A10 FLNA FBN2 FBN1 COL3A1
47 aortic aneurysm 8.8 SLC2A10 FLNA FBN2 FBN1 COL3A1 ACTA2
48 aneurysm 8.8 SLC2A10 FLNA FBN2 FBN1 COL3A1 ACTA2
49 orthostatic intolerance 8.8 SLC2A10 FLNA FBN2 FBN1 COL3A1 ACTA2
50 loeys-dietz syndrome 8.8 SLC2A10 FLNA FBN2 FBN1 COL3A1 ACTA2

Graphical network of the top 20 diseases related to Aortic Aneurysm, Familial Thoracic 2:



Diseases related to Aortic Aneurysm, Familial Thoracic 2

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 2

Clinical features from OMIM®:

607087 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Aortic Aneurysm, Familial Thoracic 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 ACTA2 COL3A1 FBN1 FBN2 FLNA SLC2A10
2 respiratory system MP:0005388 9.02 COL3A1 FBN1 FBN2 FLNA SLC2A10

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 2

Search Clinical Trials , NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 2

Genetic Tests for Aortic Aneurysm, Familial Thoracic 2

Anatomical Context for Aortic Aneurysm, Familial Thoracic 2

MalaCards organs/tissues related to Aortic Aneurysm, Familial Thoracic 2:

40
Smooth Muscle, Adipocyte, Endothelial, Bone, Skin, Brain, Liver

Publications for Aortic Aneurysm, Familial Thoracic 2

Articles related to Aortic Aneurysm, Familial Thoracic 2:

(show all 44)
# Title Authors PMID Year
1
Candidate locus analysis of familial ascending aortic aneurysms and dissections confirms the linkage to the chromosome 5q13-14 in Finnish families. 57
12878945 2003
2
Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. 57
11369686 2001
3
Macrophage-derived sulfur dioxide is a novel inflammation regulator. 61
32057367 2020
4
Endothelin-1 Downregulates Sulfur Dioxide/Aspartate Aminotransferase Pathway via Reactive Oxygen Species to Promote the Proliferation and Migration of Vascular Smooth Muscle Cells. 61
32089786 2020
5
Potential therapeutic effect of SO₂ on fibrosis. 61
31603240 2019
6
Effect of low androgen levels on the sulphur dioxide signalling pathway in rat penile corpus cavernosum. 61
30295340 2019
7
Inhibitory Effects of Sulfur Dioxide on Rat Myocardial Fibroblast Proliferation and Migration. 61
29998892 2018
8
Use of a wine yeast deletion collection reveals genes that influence fermentation performance under low-nitrogen conditions. 61
29425293 2018
9
Endogenous sulfur dioxide regulates hippocampal neuron apoptosis in developing epileptic rats and is associated with the PERK signaling pathway. 61
29155349 2018
10
The Increased Endogenous Sulfur Dioxide Acts as a Compensatory Mechanism for the Downregulated Endogenous Hydrogen Sulfide Pathway in the Endothelial Cell Inflammation. 61
29760703 2018
11
Downregulated endogenous sulfur dioxide/aspartate aminotransferase pathway is involved in angiotensin II-stimulated cardiomyocyte autophagy and myocardial hypertrophy in mice. 61
27770734 2016
12
Methanol Expression Regulator 1 (Mxr1p) Is Essential for the Utilization of Amino Acids as the Sole Source of Carbon by the Methylotrophic Yeast, Pichia pastoris. 61
27519409 2016
13
Endogenous sulfur dioxide is a novel adipocyte-derived inflammatory inhibitor. 61
27246393 2016
14
Endogenous sulfur dioxide alleviates collagen remodeling via inhibiting TGF-β/Smad pathway in vascular smooth muscle cells. 61
26762477 2016
15
Nutritional stress effects under different nitrogen sources on the genes in microalga Isochrysis zhangjiangensis and the assistance of Alteromonas macleodii in releasing the stress of amino acid deficiency. 61
26986885 2015
16
Endogeous sulfur dioxide protects against oleic acid-induced acute lung injury in association with inhibition of oxidative stress in rats. 61
25581610 2015
17
Sulfur dioxide inhibits vascular smooth muscle cell proliferation via suppressing the Erk/MAP kinase pathway mediated by cAMP/PKA signaling. 61
24853429 2014
18
Dose-dependent effect of sulfur dioxide on brain damage induced by recurrent febrile seizures in rats. 61
24373994 2014
19
Sulfur dioxide upregulates the inhibited endogenous hydrogen sulfide pathway in rats with pulmonary hypertension induced by high pulmonary blood flow. 61
23524260 2013
20
Sulfur dioxide inhibits excessively activated endoplasmic reticulum stress in rats with myocardial injury. 61
21969216 2012
21
Endogenous generation of sulfur dioxide in rat tissues. 61
22020076 2011
22
Regulatory effects of sulfur dioxide on the development of atherosclerotic lesions and vascular hydrogen sulfide in atherosclerotic rats. 61
21300352 2011
23
[Molecular genetic mapping of the sy1 and sy9 asynaptic genes in rye (Secale cereale L.) using microsatellite and isozyme markers]. 61
20198974 2009
24
Localization of mRNAs coding for peroxisomal proteins in the yeast, Saccharomyces cerevisiae. 61
19903887 2009
25
Differentiation between the two types of amiodarone-associated thyrotoxicosis using duplex and amplitude Doppler sonography. 61
17453522 2007
26
Functional characterization of a melon alcohol acyl-transferase gene family involved in the biosynthesis of ester volatiles. Identification of the crucial role of a threonine residue for enzyme activity*. 61
16247561 2005
27
Use of human cDNA microarrays for identification of differentially expressed genes in Atlantic salmon liver during Aeromonas salmonicida infection. 61
14508654 2003
28
Molecular and physiological analysis of Arabidopsis mutants defective in cytosolic or chloroplastic aspartate aminotransferase. 61
12068109 2002
29
Molecular and biochemical characteristics of a gene encoding an alcohol acyl-transferase involved in the generation of aroma volatile esters during melon ripening. 61
11985619 2002
30
Characterization of a developmentally regulated amino acid transporter (AAT1p) of the rust fungus Uromyces fabae. 61
20569305 2002
31
Arabidopsis mutants define an in vivo role for isoenzymes of aspartate aminotransferase in plant nitrogen assimilation. 61
9611168 1998
32
Characterization of a single soybean cDNA encoding cytosolic and glyoxysomal isozymes of aspartate aminotransferase. 61
9620268 1998
33
Recombinant expression, purification, and characterization of three isoenzymes of aspartate aminotransferase from Arabidopsis thaliana. 61
9535706 1998
34
Cytosolic aspartate aminotransferase encoded by the AAT2 gene is targeted to the peroxisomes in oleate-grown Saccharomyces cerevisiae. 61
9288922 1997
35
The aspartate aminotransferase gene family of Arabidopsis encodes isoenzymes localized to three distinct subcellular compartments. 61
7894512 1995
36
Genomic structure, expression and evolution of the alfalfa aspartate aminotransferase genes. 61
8049365 1994
37
Molecular analysis of allelic polymorphism at the AAT2 locus of alfalfa. 61
8232195 1993
38
Isolation and characterization of a soybean cDNA clone encoding the plastid form of aspartate aminotransferase. 61
7683917 1993
39
Linkage maps for 20 enzyme loci in Aedes triseriatus. 61
2338488 1990
40
Aromatic aminotransferase activity and indoleacetic acid production in Rhizobium meliloti. 61
2551887 1989
41
Genetics of Brazil nut (Bertholletia excelsa Humb. & Bonpl.: Lecythidaceae) : 1. Genetic variation in natural populations. 61
24232405 1988
42
Mating system and multilocus associations in a natural population of Pseudotsuga menziesii (Mirb.) Franco. 61
24241287 1987
43
Gene mapping of isozyme loci in chum salmon. 61
3559166 1986
44
Linkage relationships of eleven enzyme loci in the Aedes scutellaris group. 61
6670992 1983

Variations for Aortic Aneurysm, Familial Thoracic 2

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTA2 NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) SNV Pathogenic 18276 rs121434526 GRCh37: 10:90701551-90701551
GRCh38: 10:88941794-88941794
2 SLC2A10 NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) SNV Uncertain significance 213737 rs201393026 GRCh37: 20:45355584-45355584
GRCh38: 20:46726945-46726945
3 COL3A1 NM_000090.3(COL3A1):c.3008T>C (p.Leu1003Pro) SNV Uncertain significance 492834 rs1553509307 GRCh37: 2:189870152-189870152
GRCh38: 2:189005426-189005426
4 FBN1 NM_000138.4(FBN1):c.7099G>A (p.Gly2367Arg) SNV Uncertain significance 492831 rs368978109 GRCh37: 15:48719869-48719869
GRCh38: 15:48427672-48427672
5 FBN2 NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser) SNV Uncertain significance 492832 rs1554063781 GRCh37: 5:127700329-127700329
GRCh38: 5:128364636-128364636
6 FLNA NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) SNV Uncertain significance 264534 rs200615848 GRCh37: X:153587999-153587999
GRCh38: X:154359631-154359631

Expression for Aortic Aneurysm, Familial Thoracic 2

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 2.

Pathways for Aortic Aneurysm, Familial Thoracic 2

Pathways related to Aortic Aneurysm, Familial Thoracic 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 FLNA FBN2 FBN1 COL3A1 ACTA2
2
Show member pathways
12.81 FBN2 FBN1 COL3A1 ACTA2
3
Show member pathways
12.15 FBN2 FBN1 COL3A1
4
Show member pathways
12.15 FBN2 FBN1 COL3A1 ACTA2
5
Show member pathways
11.12 FBN2 FBN1
6 10.48 FBN2 FBN1 COL3A1
7 10.2 FLNA FBN2 FBN1

GO Terms for Aortic Aneurysm, Familial Thoracic 2

Cellular components related to Aortic Aneurysm, Familial Thoracic 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.33 FBN2 FBN1 COL3A1
2 extracellular matrix GO:0031012 9.13 FBN2 FBN1 COL3A1
3 microfibril GO:0001527 8.62 FBN2 FBN1

Biological processes related to Aortic Aneurysm, Familial Thoracic 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.4 FLNA COL3A1
2 cerebral cortex development GO:0021987 9.37 FLNA COL3A1
3 extracellular matrix organization GO:0030198 9.33 FBN2 FBN1 COL3A1
4 camera-type eye development GO:0043010 9.32 FBN2 FBN1
5 skin development GO:0043588 9.26 SLC2A10 COL3A1
6 embryonic eye morphogenesis GO:0048048 8.96 FBN2 FBN1
7 sequestering of TGFbeta in extracellular matrix GO:0035583 8.62 FBN2 FBN1

Molecular functions related to Aortic Aneurysm, Familial Thoracic 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 FBN2 FBN1 COL3A1
2 extracellular matrix constituent conferring elasticity GO:0030023 8.62 FBN2 FBN1

Sources for Aortic Aneurysm, Familial Thoracic 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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