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UCL Institute of Cardiovascular Science

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Cardiovascular Gene Annotation

This initiative focused on the annotation of cardiovascular disease-relevant proteins and microRNAs and was funded by several British Heart Foundation grants from November 2007 to July 2018.

To provide the GO annotations needed to support the cardiovascular research community we have undertaken several focused annotation projects. These processes were prioritised, following discussions with experts in the field and are considered to have important roles in a variety of cardiovascular diseases. GO annotations have facilitated the detailed and high-quality annotation of over 3,600 cardiovascular-relevant human gene products, providing over 32,000 GO annotations, and there are many ways in with the impact of our curation on data analysis and annotation resources can be demonstrated. These annotations were funded by BHF grants (SP/07/007/23671, 2007-2012; RG/13/5/30112, 2013-2018). Annotations contributed by this project to the GO Consortium resource and the IMEx dataset are attributed to BHF-UCL.

The full list of BHF-funded gene products prioritised for annotation, the annotations we have submitted and the Gene Ontology terms we have created are available:

For detailed information about creating GO annotations and GO terms and the overall curation process follow the link below:

To find out more about the heart and cardiovascular system, please see the British Heart Foundation website.

What we curate

Foam cell differentiation

The goal of this BHF-funded project was to capture biological information about foam cell differentiation. The list of priority proteins (listed below) were selected from a review of the literature. The annotations associated with these proteins and their isoforms can be viewed in QuickGO.

#Approved symbolApproved nameUniProt ID
1ABCA1ATP binding cassette subfamily A member 1O95477
2ABCG1ATP binding cassette subfamily G member 1P45844
3ADIPOQadiponectin, C1Q and collagen domain containingQ15848
4AGTR1angiotensin II receptor type 1P30556
5APOBapolipoprotein BP04114
6CD36CD36 moleculeP16671
7CRPC-reactive proteinP02741
8CSF1colony stimulating factor 1P09603
9CSF2colony stimulating factor 2P04141
10ITGAVintegrin subunit alpha VP06756
11ITGB3integrin subunit beta 3P05106
12LPLlipoprotein lipaseP06858
13MAPK9mitogen-activated protein kinase 9P45984
14MPOmyeloperoxidaseP05164
15MSR1macrophage scavenger receptor 1P21757
16NFKB1nuclear factor kappa B subunit 1P19838
17NFKBIANFKB inhibitor alphaP25963
18NR1H2nuclear receptor subfamily 1 group H member 2P55055
19NR1H3nuclear receptor subfamily 1 group H member 3Q13133
20PF4platelet factor 4P02776
21PLA2G10phospholipase A2 group XO15496
22PLA2G2Aphospholipase A2 group IIAP14555
23PPARAperoxisome proliferator activated receptor alphaQ07869
24PPARGperoxisome proliferator activated receptor gammaP37231
25SOAT1sterol O-acyltransferase 1P35610
Cardiac physiology

The goal of this BHF-funded project was to capture biological information about cardiac physiology. This project and its impact on data interpretation is described in Lovering et al. 2018. The list of priority proteins and microRNAs (listed below) were selected from a review of the literature. The annotations associated with these proteins and their isoforms and these microRNAs can be viewed in QuickGO.

#Approved symbolApproved nameUniProt ID/RNA central ID
1ACEangiotensin I converting enzymeP12821
2ACE2angiotensin I converting enzyme 2Q9BYF1
3AGTangiotensinogenP01019
4AKAP6A-kinase anchoring protein 6Q13023
5AKAP9A-kinase anchoring protein 9Q99996
6ANK2ankyrin 2Q01484
7ANK3ankyrin 3Q12955
8ASPHaspartate beta-hydroxylaseQ12797
9ATP1A1ATPase Na+/K+ transporting subunit alpha 1P05023
10ATP1A2ATPase Na+/K+ transporting subunit alpha 2P50993
11ATP1A3ATPase Na+/K+ transporting subunit alpha 3P13637
12ATP1B1ATPase Na+/K+ transporting subunit beta 1P05026
13ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2P16615
14ATP2B4ATPase plasma membrane Ca2+ transporting 4P23634
15CACNA1Ccalcium voltage-gated channel subunit alpha1 CQ13936
16CACNA1Dcalcium voltage-gated channel subunit alpha1 DQ01668
17CACNA1Gcalcium voltage-gated channel subunit alpha1 GO43497
18CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1P54289
19CACNB2calcium voltage-gated channel auxiliary subunit beta 2Q08289
20CALM1calmodulin 1P62158
21CAMK2Dcalcium/calmodulin dependent protein kinase II deltaQ13557
22CASQ2calsequestrin 2O14958
23CAV1caveolin 1Q03135
24CAV2caveolin 2P51636
25CAV3caveolin 3P56539
26CLIC2chloride intracellular channel 2O15247
27CNOT1CCR4-NOT transcription complex subunit 1A5YKK6
28DLG1discs large MAGUK scaffold protein 1Q12959
29DMDdystrophinP11532
30DSG2desmoglein 2Q14126
31FGF12fibroblast growth factor 12P61328
32FGF13fibroblast growth factor 13Q92913
33FKBP1BFK506 binding protein 1BP68106
34FLNAfilamin AP21333
35FXYD1FXYD domain containing ion transport regulator 1O00168
36GJA1gap junction protein alpha 1P17302
37GJA5gap junction protein alpha 5P36382
38GPD1Lglycerol-3-phosphate dehydrogenase 1 likeQ8N335
39GSTM2glutathione S-transferase mu 2P28161
40HCN4hyperpolarization activated cyclic nucleotide gated potassium channel 4Q9Y3Q4
41HRChistidine rich calcium binding proteinP23327
42KCNA5potassium voltage-gated channel subfamily A member 5P22460
43KCND3potassium voltage-gated channel subfamily D member 3Q9UK17
44KCNE1potassium voltage-gated channel subfamily E regulatory subunit 1P15382
45KCNE2potassium voltage-gated channel subfamily E regulatory subunit 2Q9Y6J6
46KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3Q9Y6H6
47KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5Q9UJ90
48KCNH2potassium voltage-gated channel subfamily H member 2Q12809
49KCNJ2potassium voltage-gated channel subfamily J member 2P63252
50KCNJ5potassium voltage-gated channel subfamily J member 5P48544
51KCNJ8potassium voltage-gated channel subfamily J member 8Q15842
52KCNQ1potassium voltage-gated channel subfamily Q member 1P51787
53LIG3DNA ligase 3P49916
54LITAFlipopolysaccharide induced TNF factorQ99732
55NDRG4NDRG family member 4Q9ULP0
56NEDD4Lneural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligaseQ96PU5
57NOS1nitric oxide synthase 1P29475
58NOS1APnitric oxide synthase 1 adaptor proteinO75052
59NPPAnatriuretic peptide AP01160
60NUP155nucleoporin 155O75694
61PDE4Bphosphodiesterase 4BQ07343
62PDE4Dphosphodiesterase 4DQ08499
63PKP2plakophilin 2Q99959
64PLNphospholambanP26678
65PRKACAprotein kinase cAMP-activated catalytic subunit alphaP17612
66PTPN3protein tyrosine phosphatase, non-receptor type 3P26045
67RANGRFRAN guanine nucleotide release factorQ9HD47
68RNF207ring finger protein 207Q6ZRF8
69RYR2ryanodine receptor 2Q92736
70SCN10Asodium voltage-gated channel alpha subunit 10Q9Y5Y9
71SCN1Bsodium voltage-gated channel beta subunit 1Q07699
72SCN2Bsodium voltage-gated channel beta subunit 2O60939
73SCN3Bsodium voltage-gated channel beta subunit 3Q9NY72
74SCN4Bsodium voltage-gated channel beta subunit 4Q8IWT1
75SCN5Asodium voltage-gated channel alpha subunit 5Q14524
76SLC8A1solute carrier family 8 member A1P32418
77SLC8B1solute carrier family 8 member B1Q6J4K2
78SLC9A1solute carrier family 9 member A1P19634
79SLMAPsarcolemma associated proteinQ14BN4
80SNTA1syntrophin alpha 1Q13424
81SPTBN4spectrin beta, non-erythrocytic 4Q9H254
82SRIsorcinP30626
83TCAPtitin-capO15273
84TRDNtriadinQ13061
85TRPM4transient receptor potential cation channel subfamily M member 4Q8TD43
86YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilonP62258
87YWHAHtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein etaQ04917
88hsa-miR-1-3pmiR-1URS00001DC04F_9606
89hsa-miR-26a-5pmiR-26URS000019B0F7_9606
90hsa-miR-133a-3pmiR-133aURS00004C9052_9606
91hsa-miR-208a-3pmiR-208aURS00000E5433_9606
92hsa-miR-212-3pmiR-212URS00001D6BAE_9606
93hsa-miR-328-3pmiR-328URS00005FDE70_9606
94hsa-miR-499-5pmiR-499URS00000C7662_9606
Insulin signaling

The goal of this BHF-funded project was to capture biological information about insulin signaling. The list of priority proteins (listed below) were selected from a review of the literature. The annotations associated with these proteins and their isoforms can be viewed in QuickGO.

#Approved symbolApproved nameUniProt ID
1AKT2AKT serine/threonine kinase 2P31751
2APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1Q9UKG1
3CBLCbl proto-oncogeneP22681
4GSK3Aglycogen synthase kinase 3 alphaP49840
5INSinsulinP01308
6INSRinsulin receptorP06213
7IRS1insulin receptor substrate 1P35568
8IRS2insulin receptor substrate 2Q9Y4H2
9PDE3Bphosphodiesterase 3BQ13370
10PDPK13-phosphoinositide dependent protein kinase 1O15530
11PRKCIprotein kinase C iotaP41743
12PRKCZprotein kinase C zetaQ05513
13RHOQras homolog family member QP17081
14SHC1SHC adaptor protein 1P29353
15SORBS1sorbin and SH3 domain containing 1Q9BX66
Atrial fibrillation - proteins

The goal of this project was to capture biological information about atrial fibrillation. The priority proteins (listed below) were selected from a review of the literature, for example Lozano-Velasco et al. (2020) lists the genes associated with atrial fibrillation, many of which overlap with the genes curated as part of the cardiac physiology project listed above.

#Approved symbolApproved nameUniProt ID
1ABCC9ATP binding cassette subfamily C member 9O60706
2ANGPTL2angiopoietin like 2Q9UKU9
3CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4Q7Z3S7
4CACNB2calcium voltage-gated channel auxiliary subunit beta 2Q08289
5COL12A1collagen type XII alpha 1 chainQ99715
6COL21A1collagen type XXI alpha 1 chainQ96P44
7COL23A1collagen type XXIII alpha 1 chainQ86Y22
8COLQcollagen like tail subunit of asymmetric acetylcholinesteraseQ9Y215
9COMPcartilage oligomeric matrix proteinP49747
10GATA4GATA binding protein 4P43694
11GATA5GATA binding protein 5Q9BWX5
12GATA6GATA binding protein 6Q92908
13GJA1gap junction protein alpha 1P17302
14GJA5gap junction protein alpha 5P36382
15GREM2gremlin 2, DAN family BMP antagonistQ9H772
16HCN4hyperpolarization activated cyclic nucleotide gated potassium channel 4Q9Y3Q4
17KCNA5potassium voltage-gated channel subfamily A member 5P22460
18KCND3potassium voltage-gated channel subfamily D member 3Q9UK17
19KCNE1potassium voltage-gated channel subfamily E regulatory subunit 1P15382
20KCNE2potassium voltage-gated channel subfamily E regulatory subunit 2Q9Y6J6
21KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3Q9Y6H6
22KCNE4potassium voltage-gated channel subfamily E regulatory subunit 4Q8WWG9
23KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5Q9UJ90
24KCNH2potassium voltage-gated channel subfamily H member 2Q12809
25KCNJ2potassium inwardly rectifying channel subfamily J member 2P63252
26KCNJ5potassium inwardly rectifying channel subfamily J member 5P48544
27KCNJ8potassium inwardly rectifying channel subfamily J member 8Q15842
28KCNN3potassium calcium-activated channel subfamily N member 3Q9UGI6
29KCNQ1potassium voltage-gated channel subfamily Q member 1P51787
30LMNAlamin A/CP02545
31MMP3matrix metallopeptidase 3P08254
32NKX2-5NK2 homeobox 5P52952
33NKX2-6NK2 homeobox 6A6NCS4
34NPPAnatriuretic peptide AP01160
35NUP155nucleoporin 155O75694
36RyR2ryanodine receptor 2Q92736
37SCN10Asodium voltage-gated channel alpha subunit 10Q9Y5Y9
38SCN1Bsodium voltage-gated channel beta subunit 1Q07699
39SCN2Bsodium voltage-gated channel beta subunit 2O60939
40SCN3Bsodium voltage-gated channel beta subunit 3Q9NY72
41SCN4Bsodium voltage-gated channel beta subunit 4Q8IWT1
42SCN5Asodium voltage-gated channel alpha subunit 5Q14524
Atrial fibrillation - microRNAs

The goal of this project was curate microRNAs that may impact on atrial fibrillation by regulating the levels of proteins associated with this disease. The priority microRNAs (listed below) that regulates proteins involved in electrial physiology were selected from a review of the literature, for example Lozano-Velasco et al. (2020) describes the miRNAs and lncRNAs networks controlling structural and electrical remodelling in atrial fibrillation.

#microRNATarget approved gene symbol
1hsa-miR-1HCN2
 hsa-miR-1HCN4
 hsa-miR-1KCNE1
 hsa-miR-1KCNB2
 hsa-miR-1KCNJ2
2hsa-miR-106bRYR2
3hsa-miR-133HCN2
 hsa-miR-133HCN4
4hsa-miR-192-5pSCN5A
5hsa-miR-206GJA1
6hsa-miR-208GJA5
7hsa-miR-208bSERCA
8hsa-miR-208bCACNA1C
9hsa-miR-21CACNA1C
 hsa-miR-21CACNB2
10hsa-miR-24RYR2
 hsa-miR-25RYR2
11hsa-miR-26KCNJ2
12hsa-miR-29CACNA1C
13hsa-miR-30dCACNA1C
 hsa-miR-30dKCNJ3
14hsa-miR-328CACNA1C
 hsa-miR-328CACNB1
15hsa-miR-384CACNA1C
16hsa-miR-499KCNN3
 hsa-miR-499CACNB2