Aneurysm Type:	Aortic aneurysm
Official Symbol	Gene ID	Description	Data Source	More Info	Clinical	Subcellular Location	Species
1636	ACE	rs4646994| I/D polymorphysm	PMID: 27858843| PMID: 25155622	None	None	Angiotensin-converting enzyme, soluble form: Secreted. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Note=Detected in both cell membrane and cytoplasm in neurons..	human
59	ACTA2	NM_000138.4:c.6832C-T, NP_001604.1:p.V161A	PMID: 22001912	None	None	Cytoplasm, cytoskeleton.	human
1281	COL3A1	rs1801183, NM_000138.4:c.2448C-G, NP_000081.1:p.P668T| rs111391222, NM_002474.2:c.935A-G, NP_000081.1:p.L169F| NM_002474.2:c.1502G-A, NP_000081.1:p.A40V| rs149722210, NM_002474.2:c.4942C-T, NP_000081.1:p.A1045T| rs148387626, NM_002474.2:c.2135G-A, NP_000081.1:p.A1259V| rs113485686, NM_002474.2:c.4604G-A, NP_000081.1:p.G786R| rs121912919, NM_002474.2:c.3791T-C, NP_000081.1:p.G303R| NM_002474.2:c.3700G-A, NP_000081.1:p.G261S| rs397509370| rs146652498| NM_000090.3:c.505C>T (p.Leu169Phe)	PMID: 8514866| PMID: 22001912| PMID: 2243125| PMID: 18389341| PMID: 2349939| ClinVar: 161216	None	conflicting interpretations of pathogenicity	Secreted, extracellular space, extracellular matrix.	human
30008	EFEMP2	NM_003036.3:c.347G-A, NP_058634.4:p.E161K| rs630394| p.E161K 	PMID: 22440127| PMID: 25907466	case report	None	Secreted.	human
133584	EGFLAM	rs1465567	PMID: 28339009	None	None	Secreted, extracellular space, extracellular matrix. Cell junction, synapse. Note=Detected in the synaptic cleft of the ribbon synapse around the postsynaptic terminals of bipolar cells. Colocalizes with BSN, CTBP2 and DAG1 in photoreceptor synaptic terminals..	human
2006	ELN	2114_2138del| 2159delC	PMID: 16085695	case report	None	Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers..	human
2192	FBLN1	E126K| E57K| R279C| A397T	PMID: 27339457	None	uncertain significance	Secreted, extracellular space, extracellular matrix.	human
2199	FBLN2	E161K	PMID: 27339457	None	uncertain significance	Secreted, extracellular space, extracellular matrix.	human
2200	FBN1	NM_000138.4:c.1878delG| NM_000138.4:c.2133dupC| NM_000138.4:c.8011_8017dupCTGTGTG| NM_005902.3:c.859C-T, NP_000129.3:p.Q176P| NM_003238.3:c.619G-C, NP_000129.3:p.E915K| NM_003238.3:c.687C-A, NP_000129.3:p.E2169G| NM_004612.2:c.214A-T, NP_000129.3:p.D2291H| rs137854468, NM_004612.2:c.1459C-T, NP_000129.3:p.G1127S| NM_003242.5:c.1483C-T, NP_000129.3:p.Y2474C| NM_003242.5:c.1063G-C, NP_000129.3:p.C555R| NM_003242.5:c.1069G-T, NP_000129.3:p.C1497Y| NM_003242.5:c.1657T-A, NP_000129.3:p.C2181F| NM_001024847.2:c.136A-C, NP_000129.3:p.C805R| NM_003254.2:c.372C-T, NP_000129.3:p.C776*| c.6247T>C, p.2083C>R| rs2118181| rs1036477	PMID: 22001912| PMID: 17418587| PMID: 7762551| PMID: 11826022| PMID: 27558095| PMID: 25583878	None	aortic root aneurysm and aortic root dilatation	Secreted. Note=Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166).. Asprosin: Secreted. Note=Secreted into the plasma.. Fibrillin-1: Secreted, extracellular space, extracellular matrix.	human
3091	HIF1A	serum: increase in RNA level	PMID: 26828991	None	None	Cytoplasm. Nucleus. Nucleus speckle. Note=Colocalizes with HIF3A in the nucleus and speckles (By similarity). Cytoplasmic in normoxia, nuclear translocation in response to hypoxia (PubMed:9822602)..	human
3816	KLK1	rs5516	PMID: 27858843	None	None	None	human
4035	LRP1	NM_002474.2:c.935A-G, NP_002323.2:p.A828T	PMID: 24484584	None	None	Low-density lipoprotein receptor-related protein 1 85 kDa subunit: Cell membrane; Single-pass type I membrane protein. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 515 kDa subunit: Cell membrane; Peripheral membrane protein; Extracellular side. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 intracellular domain: Cytoplasm. Nucleus. Note=After cleavage, the intracellular domain (LRPICD) is detected both in the cytoplasm and in the nucleus.	human
406937	MIR145	aortic tissue: increase in RNA level	PMID: 25465469	ascending AA	None	None	human
4314	MMP3	tissue/serum: increase in protein level| increase in RNA level	PMID: 21802713	ascending AA	None	Secreted, extracellular space, extracellular matrix.	human
4318	MMP9	tissue/serum: increase in protein level| increase in RNA level	PMID: 21802713	ascending AA	None	Secreted, extracellular space, extracellular matrix.	human
4629	MYH11	rs369409348, NM_000934.3:c.1301G-A, NP_002465.1:p.R1648C| rs137934837, NM_003036.3:c.94C-G, NP_002465.1:p.R1535Q| NM_001040113.1:c.4963C>T (p.Arg1655Cys)	PMID: 22001912| ClinVar: 161318	None	uncertain significance	Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils.	human
4638	MYLK	NM_053025.3:c.3184G>T (p.Ala1062Ser)	ClinVar: 375866	None	uncertain significance	Cytoplasm. Cell projection, lamellipodium. Cleavage furrow. Cytoplasm, cytoskeleton. Note=Localized to stress fibers during interphase and to the cleavage furrow during mitosis.	human
54820	NDE1	NM_001040113.1:c.4963C>T (p.Arg1655Cys)	ClinVar: 161318	None	uncertain significance	Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cleavage furrow. Note=Localizes to the interphase and S phase centrosome. During mitosis, partially associated with the mitotic spindle. Concentrates at the plus ends of microtubules coincident with kinetochores in metaphase and anaphase in a CENPF-dependent manner. Also localizes to the cleavage furrow during cytokinesis. manner. Also localizes to the cleavage furrow during cytokinesis.	human
4851	NOTCH1	NM_017617.3:c.3269C-G, NP_060087.3:p.T1090S| c.C3269G, p.T1090S	PMID: 23102684	ascending AA| case report; ascending AA	None	Cell membrane ; Single-pass type I membrane protein. Notch 1 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus. Nuclear location may require MEGF10..	human
5184	PEPD	serum: increase in protein level	PMID: 20383038	ascending AA	None	None	human
10891	PPARGC1A	plasma: increase in RNA level	PMID: 27143380	None	None	Isoform 1: Nucleus. Nucleus, PML body. Isoform B4: Nucleus. Isoform B4-8a: Cytoplasm. Nucleus. Isoform B5: Nucleus. Nucleus, PML body. Isoform 9: Nucleus.	human
26191	PTPN22	aneurysm tissue: decrease in RNA level	PMID: 26334848	ascending AA	None	Cytoplasm.	human
5996	RGS1	aneurysm tissue: increase in RNA level	PMID: 25782711	None	None	Cell membrane ; Peripheral membrane protein ; Cytoplasmic side. Cytoplasm, cytosol.	human
440163	RNASE13	rs143881017	PMID: 28339009	None	None	Secreted.	human
5054	SERPINE1	aneurysm/vascular smooth muscle cells: increase in protein level| increase in RNA level	PMID: 23814118	ascending AA	None	Secreted.	human
5270	SERPINE2	aneurysm/vascular smooth muscle cells: increase in protein level| increase in RNA level	PMID: 23814118	ascending AA	None	Secreted, extracellular space.	human
6497	SKI	rs397514590, NM_003036.3:c.347G-A, NP_003027.1:p.P35S| NM_003036.3:c.100G-A, NP_003027.1:p.L21R| rs387907304, NM_003036.3:c.101G-A, NP_003027.1:p.L32V| rs387907303, NM_003036.3:c.100G-T, NP_003027.1:p.G116E| rs387907306, NM_005902.3:c.782C-T, NP_003027.1:p.G34S| NM_005902.3:c.836G-A, NP_003027.1:p.G117R| rs387907305, NM_003036.3:c.101G-A, NP_003027.1:p.G34D| rs387907306, NM_003036.3:c.100G-T, NP_003027.1:p.G34C	PMID: 23023332	None	None	Nucleus.	human
81031	SLC2A10	NM_005902.3:c.782C-T, NP_110404.1:p.L407R	PMID: 22001912	None	None	Endomembrane system ; Multi-pass membrane protein. Cytoplasm, perinuclear region.	human
4087	SMAD2	c.833C>T,p.A278V| c.1163A>G, p.Gln388Arg| aortic tissue: increase in protein level	PMID: 28283438| PMID: 26247899| PMID: 22532183	in Chinese population| ascending AA	premature aneurysm	Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:9865696). On dephosphorylation by phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081)..	human
4088	SMAD3	NM_005902.3:c.3G-A, NP_005893.1:p.M1I| aortic tissue: increase in protein level	PMID: 24711937| PMID: 22532183	None	None	Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236)..	human
4089	SMAD4	aortic tissue: increase in protein level	PMID: 22532183	None	None	Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with R-SMAD (PubMed:15799969). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236)..	human
4092	SMAD7	aortic tissue: increase in protein level	PMID: 22532183	None	None	Nucleus. Cytoplasm. Note=Interaction with NEDD4L or RNF111 induces translocation from the nucleus to the cytoplasm (PubMed:16601693). TGF-beta stimulates its translocation from the nucleus to the cytoplasm. PDPK1 inhibits its translocation from the nucleus to the cytoplasm in response to TGF-beta (PubMed:17327236)..	human
84221	SPATC1L	rs113710653	PMID: 28339009	None	None	None	human
7040	TGFB1	aortic tissue: increase in protein level	PMID: 23291965	None	biomarker of the AA progress	Secreted, extracellular space, extracellular matrix.	human
7042	TGFB2	c.995del, p.Leu332TrpfsTer27| NM_003238.3:c.356C>T (p.Pro119Leu)	PMID: 27440102| ClinVar: 213840	None	conflicting interpretations of pathogenicity	Secreted.	human
7048	TGFBR2	rs200111443, NM_001024847.2:c.136A-C, NP_001020018.1:p.S46R| NM_003242.5:c.1159G-A, NP_003233.4:p.T206M| NM_003242.5:c.1657T-A, NP_003233.4:p.D110Y| NM_001024847.2:c.1732T>A (p.Ser578Thr)	PMID: 22001912| ClinVar: 161394	congenital aneurysm of ascending aorta	conflicting interpretations of pathogenicity	Cell membrane ; Single-pass type I membrane protein. Membrane raft.	human
7422	VEGFA	serum: increase in RNA level	PMID: 26828991	None	None	Secreted.	human