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.
- Alzheimer's-disease-relevant gene products prioritised for annotation
- GO annotations resulting from ARUK-funded projects
- GO terms resulting from ARUK-funded projects
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 Symbol Database identifier Name 1 CHRNA7 P36544 α7-Nicotinic acetylcholine receptor (α 7nAChR) 2 APOE P02649 Apolipoprotein E (apoE) 3 CLU P10909 Clusterin (ApoJ) 4 n/a (complex) EBI-2568294 Complement receptor type 3 (CR3 or Mac1) (heterodimer) 5 ITGAM P11215 Complement receptor type 3 (CR3 or Mac1) (component) 6 ITGB2 P05107 Complement receptor type 3 (CR3 or Mac1) (component) 7 FPR2 P25090 Formyl peptide receptor-like 1 (FPRL1) 8 HSPG2 P98160 Heparan sulfate proteoglycan (HSPG) 9 LDLR P01130 Low-density lipoprotein receptor (LDLR) 10 LRP1 Q07954 Low-density lipoprotein receptor-related protein 1 (LRP1) 11 MARCO Q9UEW3 Macrophage receptor with collagenous structure (MARCO) 12 PICALM Q13492 Phosphatidylinositol-binding clathrin assembly (PICALM) protein 13 PRNP P04156 Prion protein (PrPC) 14 MSR1 P21757 Scavenger receptors (SCARA1/2) 15 GRIA1 P42261 AMPA receptor subunit 16 GRIA2 P42262 AMPA receptor subunit 17 GRIA3 P42263 AMPA receptor subunit 18 GRIA4 P48058 AMPA receptor subunit 19 n/a (complex) EBI-9685439 Amylin receptor 3 (AMY3) complex (heterodimer) 20 RAMP3 O60896 Amylin receptor 3 (AMY3) complex (component) 21 CALCR P30988 Amylin receptor 3 (AMY3) complex (component) 22 ADRB2 P07550 β2 adrenergic receptor (β2AR) 23 EPHA4
Ephrin A4 (EphA4) - This is the Ephrin A4 RECEPTOR (and NOT Ephrin A4) 24 EPHB2 P29323 Ephrin B2 (EphB2) - This is the Ephrin B2 RECEPTOR (and NOT Ephrin B2) 25 FCGR2B P31994 Fcγ receptor IIb (FcγRllb) 26 FZD4 Q9ULV1 Frizzled-4 27 FZD5 Q13467 Frizzled-5 28 INSR P06213 Insulin receptor 29 LILRB2 Q8N423 Leukocyte immunoglobulin-like receptor B2 (LilrB2) 30 ATP1A3 P13637 Na+/K+-ATPase neuron-specific α3 subunit (NaKα3) 31 NLGN1 Q8N2Q7 Neuroligin-1 32 GRIN1 Q05586 Glutamate receptor ionotropic, NMDA 1 33 GRIN2A Q12879 Glutamate receptor ionotropic, NMDA 2A 34 GRIN2B Q13224 Glutamate receptor ionotropic, NMDA 2B 35 NGFR P08138 p75 neurotrophin receptor (p75NTR) 36 CACNA1A O00555 Voltage-dependent P/Q-type calcium channel subunit alpha-1A 37 AGER Q15109 Receptor for advanced glycation end products (RAGE) 38 SCARB2 Q14108 SCARB2/ CD36 39 PGRMC1 O00264 Sigma-2/PGRMC1 40 TLR2 O60603 Toll-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 ID UniProt Name HGNC Symbol HGNC Name 1 P49840 Glycogen synthase kinase-3 alpha GSK3A glycogen synthase kinase 3 alpha 2 P49841 Glycogen synthase kinase-3 beta GSK3B glycogen synthase kinase 3 beta 3 Q00535 Cyclin-dependent-like kinase 5 CDK5 cyclin dependent kinase 5 4 P06241 Tyrosine-protein kinase Fyn FYN FYN proto-oncogene, Src family tyrosine kinase 5 Q5TCY1 Tau-tubulin kinase 1 TTBK1 tau tubulin kinase 1 6 Q6IQ55 Tau-tubulin kinase 2 TTBK2 tau tubulin kinase 2 7 Q7L7X3 Serine/threonine-protein kinase TAO1 TAOK1 TAO kinase 1 8 Q9UL54 Serine/threonine-protein kinase TAO2 TAOK2 TAO kinase 2 9 Q13627 Dual specificity tyrosine-phosphorylation-regulated kinase 1A DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A 10 Q13464 Rho-associated protein kinase 1 ROCK1 Rho associated coiled-coil containing protein kinase 1 11 O75116 Rho-associated protein kinase 2 ROCK2 Rho associated coiled-coil containing protein kinase 2 12 P67775 Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform PPP2CA protein phosphatase 2 catalytic subunit alpha 13 P62714 Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform PPP2CB protein phosphatase 2 catalytic subunit beta 14 Q09472 Histone acetyltransferase p300 EP300 E1A binding protein p300 15 Q9UBN7 Histone deacetylase 6 HDAC6 histone deacetylase 6 16 Q9UNE7 E3 ubiquitin-protein ligase CHIP STUB1 STIP1 homology and U-box containing protein 1 17 Q13526 Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 18 O00499 Myc box-dependent-interacting protein 1 BIN1 bridging integrator 1 19 P08238 Heat shock protein HSP 90-beta HSP90AB1 heat shock protein 90 alpha family class B member 1 20 O95816 BAG family molecular chaperone regulator 2 BAG2 BCL2 associated athanogene 2 21 Q99538 Legumain LGMN legumain 22 Q13131 5'-AMP-activated protein kinase catalytic subunit alpha-1 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 23 Q8TDC3 Serine/threonine-protein kinase BRSK1 BRSK1 BR serine/threonine kinase 1 24 Q8IWQ3 Serine/threonine-protein kinase BRSK2 BRSK2 BR serine/threonine kinase 2 25 Q9P0L2 Serine/threonine-protein kinase MARK1 MARK1 microtubule affinity regulating kinase 1 26 Q7KZI7 Serine/threonine-protein kinase MARK2 MARK2 microtubule affinity regulating kinase 2 27 P27448 MAP/microtubule affinity-regulating kinase 3 MARK3 microtubule affinity regulating kinase 3 28 Q96L34 MAP/microtubule affinity-regulating kinase 4 MARK4 microtubule affinity regulating kinase 4 29 P53041 Serine/threonine-protein phosphatase 5 PPP5C protein phosphatase 5 catalytic subunit 30 P60709 Actin, cytoplasmic 1 ACTB actin beta 31 Q14203 Dynactin subunit 1 DCTN1 dynactin subunit 1 32 P78559 Microtubule-associated protein 1A MAP1A microtubule associated protein 1A 33 P11137 Microtubule-associated protein 2 MAP2 microtubule 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.
- miRNAs annotated available at the QuickGO site, within section 'H'
- miRNA GO annotations available at the QuickGO site
- 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
- Define the specific subprocesses, which contribute to neuroinflammation, subprocesses identified to date:
- 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 symbol HGNC name UnIProt ID 1 AIF1 allograft inflammatory factor 1 P55008 2 B2M beta-2-microglobulin P61769 3 C1QA complement C1q A chain P02745 4 C3 complement C3 P01024 5 C5AR1 complement C5a receptor 1 P21730 6 CD200 CD200 molecule P41217 7 CD200R1 CD200 receptor 1 Q8TD46 8 CD22 CD22 molecule P20273 9 CD33 CD33 molecule P20138 10 CD47 CD47 molecule Q08722 11 CD68 CD68 molecule P34810 12 CD74 CD74 molecule P04233 13 CLEC7A C-type lectin domain containing 7A Q9BXN2 14 CSF1R colony stimulating factor 1 receptor P07333 15 CST7 cystatin F O76096 16 CTSD cathepsin D P07339 17 CX3CL1 C-X3-C motif chemokine ligand 1 P78423 18 CX3CR1 C-X3-C motif chemokine receptor 1 P49238 19 GRN granulin precursor P28799 20 IDE insulin degrading enzyme P14735 21 IFNG interferon gamma P01579 22 IL1B interleukin 1 beta P01584 23 IL6 interleukin 6 P05231 24 ITGAM integrin subunit alpha M P11215 25 ITGAX integrin subunit alpha X P20702 26 LPL lipoprotein lipase P06858 27 MME membrane metalloendopeptidase P08473 28 MMP9 matrix metallopeptidase 9 P14780 29 P2RX4 purinergic receptor P2X 4 Q99571 30 P2RY12 purinergic receptor P2Y12 Q9H244 31 P2RY6 purinergic receptor P2Y6 Q15077 32 PTPRC protein tyrosine phosphatase, receptor type C P08575 33 RIPK1 receptor interacting serine/threonine kinase 1 Q13546 34 SIRPA signal regulatory protein alpha P78324 35 TMEM119 transmembrane protein 119 Q4V9L6 36 TNF tumor necrosis factor P01375 37 TNFRSF1A TNF receptor superfamily member 1A P19438 38 TNFRSF1B TNF receptor superfamily member 1B P20333 39 TREM2 triggering receptor expressed on myeloid cells 2 Q9NZC2 40 TYROBP TYRO protein tyrosine kinase binding protein O43914
- 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 Symbol HGNC Gene Name UniProt ID UniProt Name (alias) 1 ACTB actin beta P60709 Actin, cytoplasmic 1 2 ACTG1 actin gamma 1 P63261 Actin, cytoplasmic 2 3 CDH5 cadherin 5 P33151 Cadherin-5 (VE-cadherin) 4 CLDN1 claudin 1 O95832 Claudin-1 5 CLDN3 claudin 3 O15551 Claudin-3 6 CLDN5 claudin 5 O00501 Claudin-5 7 CLDN12 claudin 12 P56749 Claudin-12 8 DMD dystrophin P11532 Dystrophin 9 ESAM endothelial cell adhesion molecule Q96AP7 Endothelial cell-selective adhesion molecule 10 F11R F11 receptor Q9Y624 Junctional adhesion molecule A (JAM-A) 11 GJA1 gap junction protein alpha 1 P17302 Gap junction alpha-1 protein (CX43) 12 GJB6 gap junction protein beta 6 O95452 Gap junction beta-6 protein (CX30) 13 ITGB1 integrin subunit beta 1 P05556 Integrin beta-1 14 JAM2 junctional adhesion molecule 2 P57087 Junctional adhesion molecule B (JAM-B) 15 JAM3 junctional adhesion molecule 3 Q9BX67 Junctional adhesion molecule C (JAM-C) 16 LAMA2 laminin subunit alpha 2 P24043 Laminin subunit alpha-2 17 LAMC1 laminin subunit gamma 1 P11047 Laminin subunit gamma-1 18 LSR lipolysis stimulated lipoprotein receptor Q86X29 Lipolysis-stimulated lipoprotein receptor 19 OCLN occludin Q16625 Occludin 20 PECAM1 platelet and endothelial cell adhesion molecule 1 P16284 Platelet endothelial cell adhesion molecule 21 TJP1 tight junction protein 1 Q07157 Tight junction protein ZO-1 22 TJP2 tight junction protein 2 Q9UDY2 Tight junction protein ZO-2 23 TJP3 tight junction protein 3 O95049 Tight junction protein ZO-3 24 VCL vinculin P18206 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 Symbol HGNC Name UniProt ID Alias (PMID: 30280653) Active Efflux 1 ABCA2 ATP binding cassette subfamily A member 2 Q9BZC7 ABCA2 2 ABCB1 ATP binding cassette subfamily B member 1 P08183 ABCB1 3 ABCC1 ATP binding cassette subfamily C member 1 P33527 MRP1 4 ABCC2 ATP binding cassette subfamily C member 2 Q92887 MRP2 5 ABCC3 ATP binding cassette subfamily C member 3 O15438 MRP3 6 ABCC4 ATP binding cassette subfamily C member 4 O15439 MRP4 7 ABCC5 ATP binding cassette subfamily C member 5 O15440 MRP5 8 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) Q9UNQ0 BCRP Ion transport 9 ABCC9 ATP binding cassette subfamily C member 9 O60706 ABCC9 10 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 P50993 ATP1A2 11 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 Q13733 ATP1A4 12 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 P14415 ATP1B2 13 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 Q93084 ATP2A3 14 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 P23634 ATP2B4 15 KCNJ8 potassium voltage-gated channel subfamily J member 8 Q15842 Kir6.1 16 SLC4A3 solute carrier family 4 member 3 P48751 SLC4A3 17 SLC4A4 solute carrier family 4 member 4 Q9Y6R1 SLC4A4 18 SLC4A8 solute carrier family 4 member 8 Q2Y0W8 Cl--HCO3- 19 SLC5A5 solute carrier family 5 member 5 Q92911 SLC5A5 20 SLC8A2 solute carrier family 8 member A2 Q9UPR5 SLC8A2 21 SLC9A3R1 SLC9A3 regulator 1 O14745 SLC9A3R1 22 SLC12A2 solute carrier family 12 member 2 P55011 NKCC1 23 SLC15A2 solute carrier family 15 member 2 Q16348 SLC15A2 24 SLC24A3 solute carrier family 24 member 3 Q9HC58 SLC24A3 Solute carrier-mediated transport 25 MFSD2A major facilitator superfamily domain containing 2A Q8NA29 MFSD2A 26 SLC1A1 solute carrier family 1 member 1 P43005 EAAT3 27 SLC1A2 solute carrier family 1 member 2 P43004 EAAT2 28 SLC1A3 solute carrier family 1 member 3 P43003 EAAT1 29 SLC1A4 solute carrier family 1 member 4 P43007 ASCT1 30 SLC1A5 solute carrier family 1 member 5 Q15758 ASCT2 31 SLC2A1 solute carrier family 2 member 1 P11166 GLUT1 32 SLC2A4 solute carrier family 2 member 4 P14672 GLUT4 33 SLC2A10 solute carrier family 2 member 10 O95528 GLUT10 34 SLC2A13 solute carrier family 2 member 13 Q96QE2 HMIT 35 SLC5A1 solute carrier family 5 member 1 P13866 SGLT1 36 SLC5A3 solute carrier family 5 member 3 P53794 SMIT 37 SLC5A6 solute carrier family 5 member 6 Q9Y289 SMVT 38 SLC6A1 solute carrier family 6 member 1 P30531 GAT1 39 SLC6A6 solute carrier family 6 member 6 P31641 TAUT 40 SLC6A9 solute carrier family 6 member 9 P48067 GLYT1 41 SLC6A13 solute carrier family 6 member 13 Q9NSD5 GAT2 42 SLC6A17 solute carrier family 6 member 17 Q9H1V8 SLC6A17 43 SLC6A20 solute carrier family 6 member 20 Q9NP91 SLC6A20 44 SLC7A1 solute carrier family 7 member 1 P30825 CAT1 45 SLC7A2 solute carrier family 7 member 2 P52569 CAT2 46 SLC7A3 solute carrier family 7 member 3 Q8WY07 CAT3 47 SLC7A5 solute carrier family 7 member 5 Q01650 LAT1 48 SLC7A8 solute carrier family 7 member 8 Q9UHI5 LAT2 49 SLC13A3 solute carrier family 13 member 3 Q8WWT9 SLC13A3 50 SLC16A1 solute carrier family 16 member 1 P53985 MCT1 51 SLC16A2 solute carrier family 16 member 2 P36021 MCT8 52 SLC16A12 solute carrier family 16 member 12 Q6ZSM3 MCT12 53 SLC19A1 solute carrier family 19 member 1 P41440 RFC1 54 SLC22A1 solute carrier family 22 member 1 O15245 OCT1 55 SLC22A2 solute carrier family 22 member 2 O15244 OCT2 56 SLC22A3 solute carrier family 22 member 3 O75751 OCT3 57 SLC22A5 solute carrier family 22 member 5 O76082 OCTN2 58 SLC27A1 solute carrier family 27 member 1 Q6PCB7 FATP1 59 SLC27A4 solute carrier family 27 member 4 Q6P1M0 FATP4 60 SLC28A2 solute carrier family 28 member 2 O43868 CNT2 61 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) Q99808 ENT1 62 SLC29A2 solute carrier family 29 member 2 Q14542 ENT2 63 SLC29A4 solute carrier family 29 member 4 Q7RTT9 PMAT 64 SLC38A1 solute carrier family 38 member 1 Q9H2H9 SNAT1 65 SLC38A2 solute carrier family 38 member 2 Q96QD8 SNAT2 66 SLC38A3 solute carrier family 38 member 3 Q99624 SNAT3 67 SLC38A5 solute carrier family 38 member 5 Q8WUX1 SNAT5 68 SLC44A1 solute carrier family 44 member 1 Q8WWI5 CTL1 69 SLCO1C1 solute carrier organic anion transporter family member 1C1 Q9NYB5 OATP1C1 70 SLCO2B1 solute carrier organic anion transporter family member 2B1 O94956 OATP2B1 71 SLCO3A1 solute carrier organic anion transporter family member 3A1 Q9UIG8 OATP3A1 Receptor-mediated transport 72 AGER advanced glycosylation end-product specific receptor Q15109 RAGE 73 ATP8A1 ATPase phospholipid transporting 8A1 Q9Y2Q0 ATP8A1 74 AVPR1A arginine vasopressin receptor 1A P37288 V1 (V1aR) 75 AVPR1B arginine vasopressin receptor 1B P47901 V1 (V1bR) 76 INSR insulin receptor P06213 IR 77 LEPR leptin receptor P48357 LEP-R 78 LRP1 LDL receptor related protein 1 Q07954 LRP1 79 LRP2 LDL receptor related protein 2 P98164 LRP2 80 LRP3 LDL receptor related protein 3 O75074 LRP3 81 TFRC transferrin receptor P02786 TfR
- 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.
Interleukin 1 alpha
Interleukin 1 beta
Interleukin 1 family member 10
C-X-C motif chemokine ligand 8 (alias: interleukin 8)
Interleukin 23 alpha
Interleukin 36 alpha
Interleukin 36 beta
Interleukin 36 gamma
- 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 Symbol HGNC Name UniProt ID Biological Pathway 1 ABCA7 ATP binding cassette subfamily A member 7 Q8IZY2 Lipid transport 2 ABI3 ABI family member 3 Q9P2A4 Neurogenesis 3 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 Q9UHI8 Inflammatory response 4 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 O75173 Inflammatory response 5 APH1B aph-1 homolog B, gamma-secretase subunit Q8WW43 APP metabolism + formation of amyloid beta 6 CASS4 cas scaffold protein family member 4 Q9NQ75 APP and tau pathology; cytoskeletal function and axonal transport 7 CELF1 CUGBP Elav-like family member 1 Q92879 Cytoskeletal function and axonal transport 8 CR1 complement C3b/C4b receptor 1 (Knops blood group) P17927 Immune and complement systems/inflammatory response 9 EPHA1 EPH receptor A1 P21709 Regulation of cell adhesion 10 FERMT2 fermitin family member 2 Q96AC1 Regulation of cell adhesion 11 GAB2 GRB2 associated binding protein 2 Q9UQC2 Immune + inflammatory response 12 HLA-DRB5* major histocompatibility complex, class II, DR beta 5 Q30154 Immune and inflammatory response 13 INPP5D inositol polyphosphate-5-phosphatase D Q92835 APP metabolism + Immune response 14 ITGAM integrin subunit alpha M P11215 Immune and inflammatory response 15 LAPTM5 lysosomal protein transmembrane 5 Q13571 Immune and inflammatory response 16 LILRB4 leukocyte immunoglobulin like receptor B4 Q8NHJ6 Immune and inflammatory response 17 MS4A6A** membrane spanning 4-domains A6A Q9H2W1 Immune and complement systems/inflammatory response 18 NCK2 NCK adaptor protein 2 O43639 Cytoskeletal organisation, neurogenesis + immune response 19 NME8*** NME/NM23 family member 8 Q8N427 Cytoskeletal function and axonal transport 20 OAS1 2'-5'-oligoadenylate synthetase 1 P00973 Immune and inflammatory response 21 PLCG2 phospholipase C gamma 2 P16885 Lipid metabolism 22 RIN3**** Ras and Rab interactor 3 Q8TB24 Possible cardiovascular link 23 SLC24A4 solute carrier family 24 member 4 Q8NFF2 APP trafficking and amyloid β clearance via endocytosis 24 SLC27A4**** solute carrier family 27 member 4 Q6P1M0 Fatty acid transport 25 SPI1 Spi-1 proto-oncogene P17947 Immune and inflammatory response 26 TREM2 triggering receptor expressed on myeloid cells 2 Q9NZC2 Immune and inflammatory response 27 ZCWPW1 zinc finger CW-type and PWWP domain containing 1 Q9H0M4 Epigenetic 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.