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Alzheimer's Disease Annotation

This initiative focused on the annotation of Alzheimer's disease-relevant proteins and microRNAs and was funded by several Alzheimer's Research UK grants from January 2017 to date.

Priority Alzheimer's disease-relevant processes

To provide the GO annotations needed to support the dementia 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 Alzheimer's disease. GO annotations have facilitated the detailed and high-quality annotation of over 840 Alzheimer's disease-relevant human gene products, providing over 6,400 GO annotations, and there are many ways in with the impact of our curation on data analysis and annotation resources can be demonstrated.

astrocytes surrounding amyloid plaques
​​​​The full list of Alzheimer's Research UK (ARUK)-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:

More information about Alzheimer's disease and other forms of dementia can be found on the Alzheimer's Research UK website.

Amyloid-beta binding proteins and receptors, 2017, grant ARUK-NSG2016-13

The goal of this ARUK-funded six-month project (from January 2017) was to annotate a group of proteins and protein complexes, acting as amyloid-beta receptors, based on a review by Jarosz-Griffiths et al. (2016, PMID: 26719327).

The table below lists the prioritised UniProt and Complex Portal identifiers of the human amyloid-beta receptors annotated using GO. The two Complex Portal identifiers include EBI-2568294 and EBI-9685439. By July 2017 this project had resulted in 1387 annotations associated with 115 gene products. Of these 1013 annotations were associated with 95 human gene products (10 of the gene products were complexes).

  HGNC SymbolDatabase identifierName
1 CHRNA7P36544α7-Nicotinic acetylcholine receptor (α 7nAChR)
2 APOEP02649Apolipoprotein E (apoE)
3 CLUP10909Clusterin (ApoJ)
4 n/a (complex)EBI-2568294Complement receptor type 3 (CR3 or Mac1) (heterodimer)
5 ITGAMP11215Complement receptor type 3 (CR3 or Mac1) (component)
6 ITGB2P05107Complement receptor type 3 (CR3 or Mac1) (component)
7 FPR2P25090Formyl peptide receptor-like 1 (FPRL1)
8 HSPG2P98160Heparan sulfate proteoglycan (HSPG)
9 LDLRP01130Low-density lipoprotein receptor (LDLR)
10 LRP1Q07954Low-density lipoprotein receptor-related protein 1 (LRP1)
11 MARCOQ9UEW3Macrophage receptor with collagenous structure (MARCO)
12 PICALMQ13492Phosphatidylinositol-binding clathrin assembly (PICALM) protein
13 PRNPP04156Prion protein (PrPC)
14 MSR1P21757Scavenger receptors (SCARA1/2)
15 GRIA1P42261AMPA receptor subunit
16 GRIA2P42262AMPA receptor subunit
17 GRIA3P42263AMPA receptor subunit
18 GRIA4P48058AMPA receptor subunit
19 n/a (complex)EBI-9685439Amylin receptor 3 (AMY3) complex (heterodimer)
20 RAMP3O60896Amylin receptor 3 (AMY3) complex (component)
21 CALCRP30988Amylin receptor 3 (AMY3) complex (component)
22 ADRB2P07550β2 adrenergic receptor (β2AR)
23 EPHA4
P54764
Ephrin A4 (EphA4) - This is the Ephrin A4 RECEPTOR (and NOT Ephrin A4)
24 EPHB2P29323Ephrin B2 (EphB2) - This is the Ephrin B2 RECEPTOR (and NOT Ephrin B2)
25 FCGR2BP31994Fcγ receptor IIb (FcγRllb)
26 FZD4Q9ULV1Frizzled-4
27 FZD5Q13467Frizzled-5
28 INSRP06213Insulin receptor
29 LILRB2Q8N423Leukocyte immunoglobulin-like receptor B2 (LilrB2)
30 ATP1A3P13637Na+/K+-ATPase neuron-specific α3 subunit (NaKα3)
31 NLGN1Q8N2Q7Neuroligin-1
32 GRIN1Q05586Glutamate receptor ionotropic, NMDA 1
33 GRIN2AQ12879Glutamate receptor ionotropic, NMDA 2A
34 GRIN2BQ13224Glutamate receptor ionotropic, NMDA 2B
35 NGFRP08138p75 neurotrophin receptor (p75NTR)
36 CACNA1AO00555Voltage-dependent P/Q-type calcium channel subunit alpha-1A
37 AGERQ15109Receptor for advanced glycation end products (RAGE)
38 SCARB2Q14108SCARB2/ CD36
39 PGRMC1O00264Sigma-2/PGRMC1
40 TLR2O60603Toll-like receptor 2 (TLR2)
Neurobiology of tau, 2018, grant ARUK-NAS2017A-1

The goal of this ARUK-funded project was to capture biological information about microtubule-associated protein tau (MAPT gene) and its interacting partners. The tau binding partners were selected from a review by Guo, Noble and Hanger (2017) (Table 1 in PMID: 28386764), as well as several additional novel candidates identified by searching recent literature and dementia news. The table below lists the proteins prioritised for annotation as a part of this project.

 UniProt IDUniProt NameHGNC SymbolHGNC Name
1P49840Glycogen synthase kinase-3 alphaGSK3Aglycogen synthase kinase 3 alpha
2P49841Glycogen synthase kinase-3 betaGSK3Bglycogen synthase kinase 3 beta
3Q00535Cyclin-dependent-like kinase 5CDK5cyclin dependent kinase 5
4P06241Tyrosine-protein kinase FynFYNFYN proto-oncogene, Src family tyrosine kinase
5Q5TCY1Tau-tubulin kinase 1TTBK1tau tubulin kinase 1
6Q6IQ55Tau-tubulin kinase 2TTBK2tau tubulin kinase 2
7Q7L7X3Serine/threonine-protein kinase TAO1TAOK1TAO kinase 1
8Q9UL54Serine/threonine-protein kinase TAO2TAOK2TAO kinase 2
9Q13627Dual specificity tyrosine-phosphorylation-regulated kinase 1ADYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A
10Q13464Rho-associated protein kinase 1ROCK1Rho associated coiled-coil containing protein kinase 1
11O75116Rho-associated protein kinase 2ROCK2Rho associated coiled-coil containing protein kinase 2
12P67775Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoformPPP2CAprotein phosphatase 2 catalytic subunit alpha
13P62714Serine/threonine-protein phosphatase 2A catalytic subunit beta isoformPPP2CBprotein phosphatase 2 catalytic subunit beta
14Q09472Histone acetyltransferase p300EP300E1A binding protein p300
15Q9UBN7Histone deacetylase 6HDAC6histone deacetylase 6
16Q9UNE7E3 ubiquitin-protein ligase CHIPSTUB1STIP1 homology and U-box containing protein 1
17Q13526Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1PIN1peptidylprolyl cis/trans isomerase, NIMA-interacting 1
18O00499Myc box-dependent-interacting protein 1BIN1bridging integrator 1
19P08238Heat shock protein HSP 90-betaHSP90AB1heat shock protein 90 alpha family class B member 1
20O95816BAG family molecular chaperone regulator 2BAG2BCL2 associated athanogene 2
21Q99538LegumainLGMNlegumain
22Q131315'-AMP-activated protein kinase catalytic subunit alpha-1PRKAA1protein kinase AMP-activated catalytic subunit alpha 1
23Q8TDC3Serine/threonine-protein kinase BRSK1BRSK1BR serine/threonine kinase 1
24Q8IWQ3Serine/threonine-protein kinase BRSK2BRSK2BR serine/threonine kinase 2
25Q9P0L2Serine/threonine-protein kinase MARK1MARK1microtubule affinity regulating kinase 1
26Q7KZI7Serine/threonine-protein kinase MARK2MARK2microtubule affinity regulating kinase 2
27P27448MAP/microtubule affinity-regulating kinase 3MARK3microtubule affinity regulating kinase 3
28Q96L34MAP/microtubule affinity-regulating kinase 4MARK4microtubule affinity regulating kinase 4
29P53041Serine/threonine-protein phosphatase 5PPP5Cprotein phosphatase 5 catalytic subunit
30P60709Actin, cytoplasmic 1ACTBactin beta
31Q14203Dynactin subunit 1DCTN1dynactin subunit 1
32P78559Microtubule-associated protein 1AMAP1Amicrotubule associated protein 1A
33P11137Microtubule-associated protein 2MAP2microtubule associated protein 2
Microglial-relevant microRNAs, 2018-2019, grant ARUK-NSG2018-003

The goal of this project is to annotate the microRNAs (miRNAs) that regulated the expression of the proteins with a role in dementia-relevant microglial processes (see list below). Over 100 miRNAs have been annotated as part of this project, including hsa-miR-520b-3p, which we have annotated as regulating the expression of C3 and as positive regulation of complement activation, alternative pathway (see screenshot below). In addition, we have developed very specific guidelines (Huntley et al., 2016) to ensure consistent annotation of miRNAS which we apply during the curation of these RNA.

 

Neuroinflammation, 2018-2020, grant ARUK-NAS2017A-1

The goal of this project is to:

  • Define the specific subprocesses, which contribute to neuroinflammation, subprocesses identified to date:
    • Dementia-relevant Microglial Processes
    • Endothelial Connections at the Blood Brain Barrier
    • Transport at the Blood Brain Barrier
  • Identify and annotate gene products involved in these processes (see accordion sections below)
  • Create the new GO terms required to fully describe the role of the prioritised gene products in neuroinflammation
Dementia-relevant Microglial Processes, 2018-2019, grant ARUK-NAS2017A-1

In its first phase the focus of the neuroinflammation project is on annotation of microglial proteins implicated in dementia-relevant processes, according to the review by Simon, Obst and Gomez-Nicola (2018) (PMID:29427657) and the perspective by Deczkowska, Keren-Shaul, Weiner et al. (2018) (PMID:29775591). The table below lists the proteins prioritised for annotation.

 HGNC symbolHGNC nameUnIProt ID
1AIF1allograft inflammatory factor 1P55008
2B2Mbeta-2-microglobulinP61769
3C1QAcomplement C1q A chainP02745
4C3complement C3P01024
5C5AR1complement C5a receptor 1P21730
6CD200CD200 moleculeP41217
7CD200R1CD200 receptor 1Q8TD46
8CD22CD22 moleculeP20273
9CD33CD33 moleculeP20138
10CD47CD47 moleculeQ08722
11CD68CD68 moleculeP34810
12CD74CD74 moleculeP04233
13CLEC7AC-type lectin domain containing 7AQ9BXN2
14CSF1Rcolony stimulating factor 1 receptorP07333
15CST7cystatin FO76096
16CTSDcathepsin DP07339
17CX3CL1C-X3-C motif chemokine ligand 1P78423
18CX3CR1C-X3-C motif chemokine receptor 1P49238
19GRNgranulin precursorP28799
20IDEinsulin degrading enzymeP14735
21IFNGinterferon gammaP01579
22IL1Binterleukin 1 betaP01584
23IL6interleukin 6P05231
24ITGAMintegrin subunit alpha MP11215
25ITGAXintegrin subunit alpha XP20702
26LPLlipoprotein lipaseP06858
27MMEmembrane metalloendopeptidaseP08473
28MMP9matrix metallopeptidase 9P14780
29P2RX4purinergic receptor P2X 4Q99571
30P2RY12purinergic receptor P2Y12Q9H244 
31P2RY6purinergic receptor P2Y6Q15077
32PTPRCprotein tyrosine phosphatase, receptor type CP08575
33RIPK1receptor interacting serine/threonine kinase 1Q13546
34SIRPAsignal regulatory protein alphaP78324
35TMEM119transmembrane protein 119Q4V9L6
36TNFtumor necrosis factorP01375
37TNFRSF1ATNF receptor superfamily member 1AP19438
38TNFRSF1BTNF receptor superfamily member 1BP20333
39TREM2triggering receptor expressed on myeloid cells 2Q9NZC2
40TYROBPTYRO protein tyrosine kinase binding proteinO43914
BBB Endothelial Connections, 2019, grant ARUK-NAS2017A-1

The goal of this project is to annotate the blood-brain barrier (BBB) junctional proteins involved in maintaining the endothelial connections. The junctional proteins described in the review by Sweeney et al. (2019) (PMID:30280653) as important for maintaining endothelial connections in the brain (Sweeney et al., Figure 2) have been prioritised for annotation for this project, listed below, and their current annotations are available in QuickGO and AmiGO.

 HGNC Gene SymbolHGNC Gene NameUniProt IDUniProt Name (alias)
1ACTBactin betaP60709 Actin, cytoplasmic 1
2ACTG1actin gamma 1P63261Actin, cytoplasmic 2
3CDH5cadherin 5P33151Cadherin-5 (VE-cadherin)
4CLDN1claudin 1O95832Claudin-1
5CLDN3claudin 3O15551Claudin-3
6CLDN5claudin 5O00501Claudin-5
7CLDN12claudin 12P56749Claudin-12
8DMDdystrophinP11532 Dystrophin
9ESAMendothelial cell adhesion moleculeQ96AP7Endothelial cell-selective adhesion molecule
10F11RF11 receptorQ9Y624Junctional adhesion molecule A (JAM-A)
11GJA1gap junction protein alpha 1P17302Gap junction alpha-1 protein (CX43)
12GJB6gap junction protein beta 6O95452Gap junction beta-6 protein (CX30)
13ITGB1integrin subunit beta 1P05556Integrin beta-1
14JAM2junctional adhesion molecule 2P57087Junctional adhesion molecule B (JAM-B)
15JAM3junctional adhesion molecule 3Q9BX67Junctional adhesion molecule C (JAM-C)
16LAMA2laminin subunit alpha 2P24043Laminin subunit alpha-2
17LAMC1laminin subunit gamma 1P11047Laminin subunit gamma-1
18LSRlipolysis stimulated lipoprotein receptorQ86X29Lipolysis-stimulated lipoprotein receptor
19OCLNoccludinQ16625Occludin
20PECAM1platelet and endothelial cell adhesion molecule 1P16284 Platelet endothelial cell adhesion molecule
21TJP1tight junction protein 1Q07157 Tight junction protein ZO-1
22TJP2tight junction protein 2Q9UDY2Tight junction protein ZO-2
23TJP3tight junction protein 3O95049Tight junction protein ZO-3
24VCLvinculinP18206 Vinculin
Transport at the BBB, 2019-2020, grant ARUK-NAS2017A-1

The goal of this project is to annotate proteins involved in transport across the blood-brain barrier (BBB). The proteins prioritised for annotation are displayed in the table below, categorised, based on their roles, into 'Active Efflux', 'Ion Transport', 'Solute carrier-mediated transport' and 'Receptor-mediated transport'. These proteins were originally described in the review by Sweeney et al. (2019) (PMID:30280653,  Figure 3) and their current annotations are available in QuickGO and AmiGO.

#HGNC SymbolHGNC NameUniProt IDAlias (PMID: 30280653)
Active Efflux
1ABCA2ATP binding cassette subfamily A member 2Q9BZC7ABCA2
2ABCB1ATP binding cassette subfamily B member 1P08183ABCB1
3ABCC1ATP binding cassette subfamily C member 1P33527MRP1
4ABCC2ATP binding cassette subfamily C member 2Q92887MRP2
5ABCC3ATP binding cassette subfamily C member 3O15438MRP3
6ABCC4ATP binding cassette subfamily C member 4O15439MRP4
7ABCC5ATP binding cassette subfamily C member 5O15440MRP5
8ABCG2ATP binding cassette subfamily G member 2 (Junior blood group)Q9UNQ0BCRP
Ion transport
9ABCC9ATP binding cassette subfamily C member 9O60706ABCC9
10ATP1A2ATPase Na+/K+ transporting subunit alpha 2P50993ATP1A2
11ATP1A4ATPase Na+/K+ transporting subunit alpha 4Q13733ATP1A4
12ATP1B2ATPase Na+/K+ transporting subunit beta 2P14415ATP1B2
13ATP2A3ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3Q93084ATP2A3
14ATP2B4ATPase plasma membrane Ca2+ transporting 4P23634ATP2B4
15KCNJ8potassium voltage-gated channel subfamily J member 8Q15842Kir6.1
16SLC4A3solute carrier family 4 member 3P48751SLC4A3
17SLC4A4solute carrier family 4 member 4Q9Y6R1SLC4A4
18SLC4A8solute carrier family 4 member 8Q2Y0W8Cl--HCO3-
19SLC5A5solute carrier family 5 member 5Q92911SLC5A5
20SLC8A2solute carrier family 8 member A2Q9UPR5SLC8A2
21SLC9A3R1SLC9A3 regulator 1O14745SLC9A3R1
22SLC12A2solute carrier family 12 member 2P55011NKCC1
23SLC15A2solute carrier family 15 member 2Q16348SLC15A2
24SLC24A3solute carrier family 24 member 3Q9HC58SLC24A3
Solute carrier-mediated transport
25MFSD2Amajor facilitator superfamily domain containing 2AQ8NA29MFSD2A
26SLC1A1solute carrier family 1 member 1P43005EAAT3
27SLC1A2solute carrier family 1 member 2P43004EAAT2
28SLC1A3solute carrier family 1 member 3P43003EAAT1
29SLC1A4solute carrier family 1 member 4P43007ASCT1
30SLC1A5solute carrier family 1 member 5Q15758ASCT2
31SLC2A1solute carrier family 2 member 1P11166GLUT1
32SLC2A4solute carrier family 2 member 4P14672GLUT4
33SLC2A10solute carrier family 2 member 10O95528GLUT10
34SLC2A13solute carrier family 2 member 13Q96QE2HMIT
35SLC5A1solute carrier family 5 member 1P13866SGLT1
36SLC5A3solute carrier family 5 member 3P53794SMIT
37SLC5A6solute carrier family 5 member 6Q9Y289SMVT
38SLC6A1solute carrier family 6 member 1P30531GAT1
39SLC6A6solute carrier family 6 member 6P31641TAUT
40SLC6A9solute carrier family 6 member 9P48067GLYT1
41SLC6A13solute carrier family 6 member 13Q9NSD5GAT2
42SLC6A17solute carrier family 6 member 17Q9H1V8SLC6A17
43SLC6A20solute carrier family 6 member 20Q9NP91SLC6A20
44SLC7A1solute carrier family 7 member 1P30825CAT1
45SLC7A2solute carrier family 7 member 2P52569CAT2
46SLC7A3solute carrier family 7 member 3Q8WY07CAT3
47SLC7A5solute carrier family 7 member 5Q01650LAT1
48SLC7A8solute carrier family 7 member 8Q9UHI5LAT2
49SLC13A3solute carrier family 13 member 3Q8WWT9SLC13A3
50SLC16A1solute carrier family 16 member 1P53985MCT1
51SLC16A2solute carrier family 16 member 2P36021MCT8
52SLC16A12solute carrier family 16 member 12Q6ZSM3MCT12
53SLC19A1solute carrier family 19 member 1P41440RFC1
54SLC22A1solute carrier family 22 member 1O15245OCT1
55SLC22A2solute carrier family 22 member 2O15244OCT2
56SLC22A3solute carrier family 22 member 3O75751OCT3
57SLC22A5solute carrier family 22 member 5O76082OCTN2
58SLC27A1solute carrier family 27 member 1Q6PCB7FATP1
59SLC27A4solute carrier family 27 member 4Q6P1M0FATP4
60SLC28A2solute carrier family 28 member 2O43868CNT2
61SLC29A1solute carrier family 29 member 1 (Augustine blood group)Q99808ENT1
62SLC29A2solute carrier family 29 member 2Q14542ENT2
63SLC29A4solute carrier family 29 member 4Q7RTT9PMAT
64SLC38A1solute carrier family 38 member 1Q9H2H9SNAT1
65SLC38A2solute carrier family 38 member 2Q96QD8SNAT2
66SLC38A3solute carrier family 38 member 3Q99624SNAT3
67SLC38A5solute carrier family 38 member 5Q8WUX1SNAT5
68SLC44A1solute carrier family 44 member 1Q8WWI5CTL1
69SLCO1C1solute carrier organic anion transporter family member 1C1Q9NYB5OATP1C1
70SLCO2B1solute carrier organic anion transporter family member 2B1O94956OATP2B1
71SLCO3A1solute carrier organic anion transporter family member 3A1Q9UIG8OATP3A1
Receptor-mediated transport
72AGERadvanced glycosylation end-product specific receptorQ15109RAGE
73ATP8A1ATPase phospholipid transporting 8A1Q9Y2Q0ATP8A1
74AVPR1Aarginine vasopressin receptor 1AP37288V1 (V1aR)
75AVPR1Barginine vasopressin receptor 1BP47901V1 (V1bR)
76INSRinsulin receptorP06213IR
77LEPRleptin receptorP48357LEP-R
78LRP1LDL receptor related protein 1Q07954LRP1
79LRP2LDL receptor related protein 2P98164LRP2
80LRP3LDL receptor related protein 3O75074LRP3
81TFRCtransferrin receptorP02786TfR
Regulation of Interleukins by miRNAs, 2019-2020

The goal of this project is to annotate microRNAs (miRNAs) that regulate the expression of interleukins with a role in Alzheimer’s-relevant processes. In order to achieve this goal, there are two major objectives: (1) generating a priority list of interleukins and (2) identifying their regulatory miRNAs. The interleukins are listed below, whereas miRNAs are identified on a target-by-target basis, throughout the duration of project, according to specific guidelines developed by Huntley et al., 2016 (PMID:26917558). This project is funded from Functional Gene Annotation group’s discretionary funds.

#

HGNC Symbol

HGNC Name

UniProt ID

 

 

 

 

1

IL1A

Interleukin 1 alpha

P01583

2

IL1B

Interleukin 1 beta

P01584

3

IL1F10

Interleukin 1 family member 10

Q8WWZ1

4

IL2

Interleukin 2

P60568

5

IL3

Interleukin 3

P08700

6

IL4

Interleukin 4

P05112

7

IL5

Interleukin 5

P05113

8

IL6

Interleukin 6

P05231

9

IL7

Interleukin 7

P13232

10

CXCL8

C-X-C motif chemokine ligand 8 (alias: interleukin 8)

P10145

11

IL9

Interleukin 9

P15248

12

IL10

Interleukin 10

P22301

13

IL11

Interleukin 11

P20809

14

IL12A

Interleukin 12A

P29459

15

IL12B

Interleukin 12B

P29460

16

IL13

Interleukin 13

P35225

17

IL15

Interleukin 15

P40933

18

IL16

Interleukin 16

Q14005

19

IL17A

Interleukin 17A

Q16552

20

IL17B

Interleukin 17B

Q9UHF5

21

IL17C

Interleukin 17C

Q9P0M4

22

IL17D

Interleukin 17D

Q8TAD2

23

IL17F

Interleukin 17F

Q96PD4

24

IL18

Interleukin 18

Q14116

25

IL19

Interleukin 19

Q9UHD0

26

IL20

Interleukin 20

Q9NYY1

27

IL21

Interleukin 21

Q9HBE4

28

IL22

Interleukin 22

Q9GZX6

29

IL23A

Interleukin 23 alpha

Q9NPF7

30

IL24

Interleukin 24

Q13007

31

IL25

Interleukin 25

P01589

32

IL26

Interleukin 26

Q9NPH9

33

IL27

Interleukin 27

Q8NEV9

34

IL31

Interleukin 31

Q6EBC2

35

IL32

Interleukin 32

P24001

36

IL33

Interleukin 33

O95760

37

IL34

Interleukin 34

Q6ZMJ4

38

IL36A

Interleukin 36 alpha

Q9UHA7

39

IL36B

Interleukin 36 beta

Q9NZH7

40

IL36G

Interleukin 36 gamma

Q9NZH8

41

IL37

Interleukin 37

Q9NZH6

Alzheimer’s Disease Susceptibility Loci, 2020, grant ARUK-NAS2017A-1

Genome wide association studies (GWAS) on Alzheimer’s disease have identified several loci associated with increased or reduced risk to AD. A number of these variants are located within or near genes known to be involved in specific biological pathways.

The goal of this project is to annotate the protein products formed from these genes, starting with the proteins that have the least number of annotations associated with them. These proteins were described in Carmona et al. (2018) (Table 26.1), Sims et al. (2017), Salih et al. (2019), Schwartzentruber et al. (2021) and Open Targets. This list may be subject to modifications throughout the project.

#HGNC SymbolHGNC NameUniProt IDBiological Pathway
1ABCA7ATP binding cassette subfamily A member 7Q8IZY2Lipid transport
2ABI3ABI family member 3Q9P2A4Neurogenesis
3ADAMTS1ADAM metallopeptidase with thrombospondin type 1 motif 1Q9UHI8Inflammatory response
4ADAMTS4ADAM metallopeptidase with thrombospondin type 1 motif 4O75173Inflammatory response
5APH1Baph-1 homolog B, gamma-secretase subunitQ8WW43APP metabolism + formation of amyloid beta
6CASS4cas scaffold protein family member 4Q9NQ75APP and tau pathology; cytoskeletal function and axonal transport
7CELF1CUGBP Elav-like family member 1Q92879Cytoskeletal function and axonal transport
8CR1complement C3b/C4b receptor 1 (Knops blood group)P17927Immune and complement systems/inflammatory response
9EPHA1EPH receptor A1P21709Regulation of cell adhesion
10FERMT2fermitin family member 2Q96AC1Regulation of cell adhesion
11GAB2GRB2 associated binding protein 2Q9UQC2Immune + inflammatory response
12HLA-DRB5*major histocompatibility complex, class II, DR beta 5Q30154Immune and inflammatory response
13INPP5Dinositol polyphosphate-5-phosphatase DQ92835APP metabolism + Immune response
14ITGAMintegrin subunit alpha MP11215Immune and inflammatory response
15LAPTM5lysosomal protein transmembrane 5Q13571Immune and inflammatory response
16LILRB4leukocyte immunoglobulin like receptor B4Q8NHJ6Immune and inflammatory response
17MS4A6A**membrane spanning 4-domains A6AQ9H2W1Immune and complement systems/inflammatory response
18NCK2NCK adaptor protein 2O43639Cytoskeletal organisation, neurogenesis + immune response
19NME8***NME/NM23 family member 8Q8N427Cytoskeletal function and axonal transport
20OAS12'-5'-oligoadenylate synthetase 1P00973Immune and inflammatory response
21PLCG2phospholipase C gamma 2P16885Lipid metabolism
22RIN3****Ras and Rab interactor 3Q8TB24Possible cardiovascular link
23SLC24A4solute carrier family 24 member 4Q8NFF2APP trafficking and amyloid β clearance via endocytosis
24SLC27A4****solute carrier family 27 member 4Q6P1M0Fatty acid transport
25SPI1Spi-1 proto-oncogeneP17947Immune and inflammatory response
26TREM2triggering receptor expressed on myeloid cells 2Q9NZC2Immune and inflammatory response
27ZCWPW1zinc finger CW-type and PWWP domain containing 1Q9H0M4Epigenetic regulation

*Locus: 6p21.32, SNP: rs9271192, **Locus: 11q12.2, SNP: rs983392, ***Locus: 7p14.1, SNP: rs2718058, ****Locus: 14q32.12, SNP: rs10498633


    Image: Astrocytes surrounding amyloid plaques. Image credit: By Pics56 (Own work) [Creative Commons Attribution-Share Alike 4.0 International (https://creativecommons.org/licenses/by-sa/4.0/deed.en) via Wikimedia Commons.