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 56 13 6 71
Aat2 56
Faa2 56

Classifications:



External Ids:

OMIM 56 607087
OMIM Phenotypic Series 56 PS607086
MedGen 41 C1846837
UMLS 71 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 aortic aneurysm, familial thoracic 1. 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, brain and liver, and related phenotypes are cardiovascular system and muscle

More information from OMIM: 607087 PS607086

Related Diseases for Aortic Aneurysm, Familial Thoracic 2

Diseases in the Aortic Aneurysm, Familial Thoracic 1 family:

Aortic Aneurysm, Familial Thoracic 4 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 all 49)
# Related Disease Score Top Affiliating Genes
1 familial thoracic aortic aneurysm and aortic dissection 30.3 SLC2A10 FBN2 FBN1 COL3A1 ACTA2
2 aortic aneurysm, familial thoracic 1 29.8 SLC2A10 FBN2 FBN1 COL3A1 ACTA2 AAT2
3 aortic aneurysm, familial thoracic 6 10.1 SLC2A10 ACTA2
4 familial abdominal aortic aneurysm 10.0 FBN1 COL3A1
5 aortic valve insufficiency 10.0 FBN1 ACTA2
6 cerebral arterial disease 10.0 COL3A1 ACTA2
7 hypermobility syndrome 10.0 FBN1 COL3A1
8 cutis laxa, autosomal recessive, type ia 10.0 SLC2A10 FBN1
9 autosomal recessive cutis laxa type i 10.0 SLC2A10 FBN1
10 loeys-dietz syndrome 4 10.0 SLC2A10 FBN1
11 pelvic organ prolapse 9.9 FBN1 COL3A1
12 marden-walker syndrome 9.9 FBN2 FBN1
13 postural orthostatic tachycardia syndrome 9.9 FBN2 FBN1
14 megacystis-microcolon-intestinal hypoperistalsis syndrome 9.9 FBN2 ACTA2
15 acromicric dysplasia 9.9 FBN2 FBN1
16 stiff skin syndrome 9.9 FBN2 FBN1
17 isolated ectopia lentis 9.9 FBN2 FBN1
18 contractural arachnodactyly, congenital 9.9 FBN2 FBN1
19 geleophysic dysplasia 9.8 FBN2 FBN1
20 idiopathic scoliosis 9.8 FBN2 FBN1
21 varicose veins 9.8 FBN1 COL3A1
22 cutis laxa, autosomal dominant 1 9.8 SLC2A10 FBN1
23 weill-marchesani syndrome 9.8 FBN2 FBN1
24 prune belly syndrome 9.8 FLNA ACTA2
25 aortic dissection 9.8 FBN1 COL3A1 ACTA2
26 heritable thoracic aortic disease 9.7 FBN1 COL3A1 ACTA2
27 aortic disease 9.7 FBN1 COL3A1 ACTA2
28 brittle bone disorder 9.7 FBN1 COL3A1
29 collagen disease 9.7 FBN1 COL3A1 ACTA2
30 bone structure disease 9.7 FBN2 FBN1
31 intracranial aneurysm 9.7 FBN2 COL3A1
32 loeys-dietz syndrome 3 9.7 SLC2A10 FBN1 ACTA2
33 loeys-dietz syndrome 1 9.7 SLC2A10 FBN1 ACTA2
34 chromosome 2q35 duplication syndrome 9.5 FBN2 FBN1
35 patent ductus arteriosus 1 9.5 FLNA FBN1 ACTA2
36 odontochondrodysplasia 9.4 FLNA FBN1 COL3A1
37 arterial tortuosity syndrome 9.4 SLC2A10 FBN1 COL3A1 ACTA2
38 hydronephrosis 9.2 FLNA FBN1
39 scoliosis 9.2 FLNA FBN2 FBN1
40 tricuspid valve prolapse 9.2 SLC2A10 FBN2 FBN1 COL3A1
41 myopia 9.1 FLNA FBN2 FBN1
42 aneurysm 8.9 SLC2A10 FBN2 FBN1 COL3A1 ACTA2
43 loeys-dietz syndrome 8.9 SLC2A10 FBN2 FBN1 COL3A1 ACTA2
44 marfan syndrome 8.7 FLNA FBN2 FBN1 COL3A1 ACTA2
45 connective tissue disease 8.7 FLNA FBN2 FBN1 COL3A1 ACTA2
46 ehlers-danlos syndrome 8.6 SLC2A10 FLNA FBN2 FBN1 COL3A1
47 aortic aneurysm 8.3 SLC2A10 FLNA FBN2 FBN1 COL3A1 ACTA2
48 orthostatic intolerance 8.3 SLC2A10 FLNA FBN2 FBN1 COL3A1 ACTA2
49 aortic valve disease 1 8.3 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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 ACTA2 COL3A1 FBN1 FBN2 FLNA SLC2A10
2 muscle MP:0005369 9.26 ACTA2 COL3A1 FBN1 FBN2
3 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, Brain, Liver, Lung, Endothelial

Publications for Aortic Aneurysm, Familial Thoracic 2

Articles related to Aortic Aneurysm, Familial Thoracic 2:

(show all 47)
# Title Authors PMID Year
1
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 6
25173340 2014
2
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 6
24882528 2014
3
Candidate locus analysis of familial ascending aortic aneurysms and dissections confirms the linkage to the chromosome 5q13-14 in Finnish families. 56
12878945 2003
4
Heritable Thoracic Aortic Disease Overview 6
20301299 2003
5
Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. 56
11369686 2001
6
Macrophage-derived sulfur dioxide is a novel inflammation regulator. 61
32057367 2020
7
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
8
Potential therapeutic effect of SO₂ on fibrosis. 61
31603240 2019
9
Effect of low androgen levels on the sulphur dioxide signalling pathway in rat penile corpus cavernosum. 61
30295340 2019
10
Inhibitory Effects of Sulfur Dioxide on Rat Myocardial Fibroblast Proliferation and Migration. 61
29998892 2018
11
Use of a wine yeast deletion collection reveals genes that influence fermentation performance under low-nitrogen conditions. 61
29425293 2018
12
Endogenous sulfur dioxide regulates hippocampal neuron apoptosis in developing epileptic rats and is associated with the PERK signaling pathway. 61
29155349 2018
13
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
14
Downregulated endogenous sulfur dioxide/aspartate aminotransferase pathway is involved in angiotensin II-stimulated cardiomyocyte autophagy and myocardial hypertrophy in mice. 61
27770734 2016
15
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
16
Endogenous sulfur dioxide is a novel adipocyte-derived inflammatory inhibitor. 61
27246393 2016
17
Endogenous sulfur dioxide alleviates collagen remodeling via inhibiting TGF-β/Smad pathway in vascular smooth muscle cells. 61
26762477 2016
18
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
19
Endogeous sulfur dioxide protects against oleic acid-induced acute lung injury in association with inhibition of oxidative stress in rats. 61
25581610 2015
20
Sulfur dioxide inhibits vascular smooth muscle cell proliferation via suppressing the Erk/MAP kinase pathway mediated by cAMP/PKA signaling. 61
24853429 2014
21
Dose-dependent effect of sulfur dioxide on brain damage induced by recurrent febrile seizures in rats. 61
24373994 2014
22
Sulfur dioxide upregulates the inhibited endogenous hydrogen sulfide pathway in rats with pulmonary hypertension induced by high pulmonary blood flow. 61
23524260 2013
23
Sulfur dioxide inhibits excessively activated endoplasmic reticulum stress in rats with myocardial injury. 61
21969216 2012
24
Endogenous generation of sulfur dioxide in rat tissues. 61
22020076 2011
25
Regulatory effects of sulfur dioxide on the development of atherosclerotic lesions and vascular hydrogen sulfide in atherosclerotic rats. 61
21300352 2011
26
[Molecular genetic mapping of the sy1 and sy9 asynaptic genes in rye (Secale cereale L.) using microsatellite and isozyme markers]. 61
20198974 2009
27
Localization of mRNAs coding for peroxisomal proteins in the yeast, Saccharomyces cerevisiae. 61
19903887 2009
28
Differentiation between the two types of amiodarone-associated thyrotoxicosis using duplex and amplitude Doppler sonography. 61
17453522 2007
29
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
30
Use of human cDNA microarrays for identification of differentially expressed genes in Atlantic salmon liver during Aeromonas salmonicida infection. 61
14508654 2003
31
Molecular and physiological analysis of Arabidopsis mutants defective in cytosolic or chloroplastic aspartate aminotransferase. 61
12068109 2002
32
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
33
Characterization of a developmentally regulated amino acid transporter (AAT1p) of the rust fungus Uromyces fabae. 61
20569305 2002
34
Arabidopsis mutants define an in vivo role for isoenzymes of aspartate aminotransferase in plant nitrogen assimilation. 61
9611168 1998
35
Characterization of a single soybean cDNA encoding cytosolic and glyoxysomal isozymes of aspartate aminotransferase. 61
9620268 1998
36
Recombinant expression, purification, and characterization of three isoenzymes of aspartate aminotransferase from Arabidopsis thaliana. 61
9535706 1998
37
Cytosolic aspartate aminotransferase encoded by the AAT2 gene is targeted to the peroxisomes in oleate-grown Saccharomyces cerevisiae. 61
9288922 1997
38
The aspartate aminotransferase gene family of Arabidopsis encodes isoenzymes localized to three distinct subcellular compartments. 61
7894512 1995
39
Genomic structure, expression and evolution of the alfalfa aspartate aminotransferase genes. 61
8049365 1994
40
Molecular analysis of allelic polymorphism at the AAT2 locus of alfalfa. 61
8232195 1993
41
Isolation and characterization of a soybean cDNA clone encoding the plastid form of aspartate aminotransferase. 61
7683917 1993
42
Linkage maps for 20 enzyme loci in Aedes triseriatus. 61
2338488 1990
43
Aromatic aminotransferase activity and indoleacetic acid production in Rhizobium meliloti. 61
2551887 1989
44
Genetics of Brazil nut (Bertholletia excelsa Humb. & Bonpl.: Lecythidaceae) : 1. Genetic variation in natural populations. 61
24232405 1988
45
Mating system and multilocus associations in a natural population of Pseudotsuga menziesii (Mirb.) Franco. 61
24241287 1987
46
Gene mapping of isozyme loci in chum salmon. 61
3559166 1986
47
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 GRCh37 Pos GRCh38 Pos
1 ACTA2 NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys)SNV Pathogenic 18276 rs121434526 10:90701551-90701551 10:88941794-88941794
2 SLC2A10 NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)SNV Uncertain significance 213737 rs201393026 20:45355584-45355584 20:46726945-46726945
3 COL3A1 NM_000090.3(COL3A1):c.3008T>C (p.Leu1003Pro)SNV Uncertain significance 492834 rs1553509307 2:189870152-189870152 2:189005426-189005426
4 FBN2 NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser)SNV Uncertain significance 492832 rs1554063781 5:127700329-127700329 5:128364636-128364636
5 FBN1 NM_000138.4(FBN1):c.7099G>A (p.Gly2367Arg)SNV Uncertain significance 492831 rs368978109 15:48719869-48719869 15:48427672-48427672
6 FLNA NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly)SNV Benign/Likely benign 264534 rs200615848 X:153587999-153587999 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 SMAD binding GO:0046332 9.16 FLNA COL3A1
2 extracellular matrix structural constituent GO:0005201 9.13 FBN2 FBN1 COL3A1
3 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
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29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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