APCS

Summary

APCS (amyloid P component, serum, HGNC:584) is a protein-coding gene on chromosome 1q23.2, encoding Serum amyloid P-component (P02743). Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells.

The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo.

Source: NCBI Gene 325 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 35 total
• Druggable target: yes
• MANE Select transcript: NM_001639

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:584
Approved symbol	APCS
Name	amyloid P component, serum
Location	1q23.2
Locus type	gene with protein product
Status	Approved
Aliases	SAP, PTX2, MGC88159
Ensembl gene	ENSG00000132703
Ensembl biotype	protein_coding
OMIM	104770
Entrez	325

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000255040

RefSeq mRNA: 1 — MANE Select: NM_001639 NM_001639

CCDS: CCDS1186

Canonical transcript exons

ENST00000255040 — 2 exons

Exon	Start	End
ENSE00000904938	159587826	159587985
ENSE00000904939	159588101	159588865

Expression profiles

Bgee: expression breadth ubiquitous, 112 present calls, max score 99.80.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 7.2212 / max 4060.4852, expressed in 17 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5978	7.2212	17

Top tissues by expression

270 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	99.80	gold quality
liver	UBERON:0002107	98.37	gold quality
gall bladder	UBERON:0002110	94.20	gold quality
islet of Langerhans	UBERON:0000006	87.86	gold quality
pancreas	UBERON:0001264	76.70	gold quality
pancreatic ductal cell	CL:0002079	76.53	silver quality
epithelial cell of pancreas	CL:0000083	76.52	gold quality
body of pancreas	UBERON:0001150	73.45	gold quality
buccal mucosa cell	CL:0002336	70.77	gold quality
tendon of biceps brachii	UBERON:0008188	64.85	gold quality
oocyte	CL:0000023	57.53	gold quality
ileal mucosa	UBERON:0000331	57.21	silver quality
cartilage tissue	UBERON:0002418	54.96	gold quality
colonic epithelium	UBERON:0000397	54.95	silver quality
deltoid	UBERON:0001476	54.45	silver quality
metanephros cortex	UBERON:0010533	53.50	gold quality
quadriceps femoris	UBERON:0001377	52.45	gold quality
upper leg skin	UBERON:0004262	52.30	gold quality
metanephros	UBERON:0000081	52.08	gold quality
vastus lateralis	UBERON:0001379	51.40	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
adult mammalian kidney	UBERON:0000082	50.19	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
thymus	UBERON:0002370	49.33	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-9	yes	2976.50
E-MTAB-8495	yes	1532.91
E-MTAB-10553	yes	34.19
E-GEOD-83139	yes	11.31
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, STAT3, TP53

miRNA regulators (miRDB)

13 targeting APCS, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-1910-3P	98.44	67.51	1695
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-4423-3P	97.98	69.66	912
HSA-MIR-558	97.50	67.16	977
HSA-MIR-3156-5P	96.93	67.36	800

Literature-anchored findings (GeneRIF, showing 40)

• Serum amyloid P binds to cells in the early stage of apoptosis, presumably via phosphatidylethanolamine exposed in flip-flopped membranes, suggesting a role for serum amyloid P in the clearance of these cells in vivo. (PMID:11441067)
• A possible role of SAP in either host resistance or viral virulence was investigated during influenza infection in vivo. Influenza virus infection is not affected by serum amyloid P component.Human SAP binds much more avidly than mouse SAP to the virus. (PMID:11984001)
• Targeted pharmacological depletion of serum amyloid P component for treatment of human amyloidosis. (PMID:12015594)
• serum amyloid P component does not circulate in complex with C4-binding protein, fibronectin or any other major protein ligand (PMID:12100475)
• structures of crystalline complexes of human serum amyloid P component with its carbohydrate ligand, the cyclic pyruvate acetal of galactose (PMID:12126626)
• Serum amyloid p component binds to late apoptotic cells and is involved in the phagocytosis of these cells by human monocyte-derived macrophages. (PMID:12528126)
• Serum amyloid P component binding to Shiga toxin 2 requires both a subunit and B pentamer. (PMID:14500533)
• Purified SAP inhibits fibrocyte differentiation at levels similar to those found in plasma, while depleting SAP reduces the ability of plasma to inhibit fibrocyte differentiation. (PMID:14607961)
• This protein, a non-fibrillar component, causes soluble fibrils to condense into localized fibrillar aggregates with a greatly enhanced local density of fibril entanglements. (PMID:15031287)
• Genetic variation in APCS is associated with amyloid polyneuropathy (PMID:15649951)
• Amyloid-associated SAP significantly increases fibrillar prion protein-related peptide-induced release of interleukin-6 and TNF-alpha from human microglia. (PMID:15837583)
• Review discusses clinical significance of different levels of SAP, its role in induction or protection from autoimmunity, and the presence of specific SAP autoantibodies in different autoimmune diseases. (PMID:16380821)
• the shared specificity as well as their shared capability to activate complement, suggest that IgM and the pentraxins CRP and SAP exert similar functions in the removal of apoptotic cells (PMID:16643876)
• Monocytes bound biotinylated serum amyloid P component with avidity in a dose-dependent and saturable manner; speculated that binding of SAP by monocytes could be of physiological relevance at extravascular sites by influencing complement regulation (PMID:16784490)
• Serum amyloid P (SAP) and C-reactive protein (CRP) may represent different facets of inflammation. The association of SAP with cardiovascular disease in these older adults further supports the role of innate immunity in atherosclerosis. (PMID:17138933)
• No reduced circulating concentrations of serum amyloid P component (SAP) in patients with systemic sclerosis, nor any evidence of an association between SAP levels and the extent or severity of fibrosis were observed. (PMID:17530641)
• SAP may modulate the inflammatory response to amyloid fibrils in atherosclerosis (PMID:17630380)
• SAP was quantitated using PVDF affinity probes and MALDI-MS. (PMID:17676666)
• The complex structure between human SAP and FcgammaRIIa reveals a diagonally bound receptor on each SAP pentamer with both D1 and D2 domains of the receptor contacting the ridge helices from two SAP subunits. (PMID:19011614)
• Our data suggest that measurement of cerebrospinal fluid SAP levels can aid in the identification of incipient Alzheimer’s disease among mild cognitive impairment patients (PMID:19052452)
• Functional analysis demonstrated that SAP associated with HDL promotes SR-BI-dependent cholesterol efflux and lipid-free SAP enhances ABCA1-dependent cholesterol efflux (PMID:20189569)
• SAP has an effect on macrophages in fibrotic lung disease (PMID:20300636)
• these data suggest that local production of serum amyloid P and c-reactive protein in the alzheimer disease brain does not substantially contribute to the CSF levels. (PMID:20930309)
• serum SAP levels may be an easy detected predictor for the healing of burn wounds (PMID:20932823)
• TGF-beta driven lung fibrosis is macrophage dependent and blocked by Serum amyloid P. (PMID:21044893)
• Interaction between MBL and PTX3 led to communication between the lectin and classical complement pathways via recruitment of C1q, whereas SAP-enhanced complement activation occurs via a hitherto unknown mechanism (PMID:21106539)
• Serum amyloid P level increased by approximately 5-fold in Parkinson’s disease samples;a potential feasibility of plasma amyloid P as a marker to approach Parkinson’s disease (PMID:21223953)
• Human SAP inhibits DNA-mediated innate immune activation in vitro and may limit innate and adaptive immune responses after DNA vaccination of transgenic mice. (PMID:21278351)
• Under physiological conditions, phosphoethanolamine is bound with higher affinity by human SAP than by human CRP. (PMID:21360619)
• Low levels of serum amyloid P mark the brains of individuals who escape dementia despite the presence of beta amyloid plaques and tangles in Alzheimer’s disease neuropathology. (PMID:22205573)
• The START domain in GPBP is important for this interaction. SAP and GPBP form complexes in blood and partly colocalize in amyloid plaques from Alzheimer disease patients. (PMID:22396542)
• observations suggest that serum amyloid P, at least in part, uses FcgammaRI and FcRgamma to inhibit fibrocyte differentiation (PMID:22493081)
• Studies indicate that pharmaceutical grade serum amyloid P component and C-reactive protein were isolated and purified. (PMID:22867744)
• 9 different proteins (haptoglobin, transthyretin, apolipoprotein A-1, serum amyloid P component, apolipoprotein E, complement factor H, fibrinogen gamma, thrombin, complement C3) were identified as a potential diagnostic pattern of Parkinson’s disease. (PMID:23385359)
• SAP has a new role in reducing the toxicity of early amyloidogenic aggregates in transthyretin amiloidosis. (PMID:23390551)
• Persons who develop non-affective psychoses have lower levels of certain acute phase proteins, including SAP, at the time of birth. (PMID:23423137)
• [review] On the basis of structure, serum amyloid P component is a prototype of the short pentraxin family. (PMID:23527487)
• SAP may act as an effective receptor mimic to limit influenza A virus infection of airway epithelial cells. (PMID:23544079)
• Human SAP binds phosphoethanolamine, while rabbits seem to have low levels of SAP that bind to a lesser extent. (PMID:23600950)
• These results indicate that SAP functions as a host defense factor, similar to other peptidoglycan recognition proteins and nucleotide-binding oligomerization domain-like receptors. (PMID:23966633)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	apcs	ENSDARG00000045089
mus_musculus	Apcs	ENSMUSG00000026542
rattus_norvegicus	Apcs	ENSRNOG00000009086

Paralogs (5): NPTX2 (ENSG00000106236), CRP (ENSG00000132693), PTX3 (ENSG00000163661), NPTX1 (ENSG00000171246), PTX4 (ENSG00000251692)

Protein

Protein identifiers

Serum amyloid P-component — P02743 (reviewed: P02743)

Alternative names: 9.5S alpha-1-glycoprotein

All UniProt accessions (2): P02743, V9HWP0

UniProt curated annotations — full annotation on UniProt →

Function. Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. May also function as a calcium-dependent lectin.

Subunit / interactions. Homopentamer. Pentraxin (or pentaxin) have a discoid arrangement of 5 non-covalently bound subunits.

Subcellular location. Secreted.

Tissue specificity. Found in serum and urine.

Post-translational modifications. N-glycosylated with a complex biantennary oligosaccharide chain with a sialic acid at the end (disialo-SAP). Monosialo-SAP as well as asioalo-SAP are also detected.

Disease relevance. SAP is a precursor of amyloid component P which is found in basement membrane and associated with amyloid deposits.

Cofactor. Binds 2 calcium ions per subunit.

Similarity. Belongs to the pentraxin family.

RefSeq proteins (1): NP_001630* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001759	PTX_dom	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR030476	Pentaxin_CS	Conserved_site
IPR051005	Pentraxin_domain	Family

Pfam: PF00354

UniProt features (37 total): strand 15, binding site 8, sequence variant 3, helix 3, chain 2, signal peptide 1, glycosylation site 1, disulfide bond 1, sequence conflict 1, turn 1, domain 1

Structure

Experimental structures (PDB)

13 structures.

PDB	Method	Resolution (Å)
4AVS	X-RAY DIFFRACTION	1.4
3KQR	X-RAY DIFFRACTION	1.5
4AYU	X-RAY DIFFRACTION	1.5
4AVV	X-RAY DIFFRACTION	1.6
2W08	X-RAY DIFFRACTION	1.7
1SAC	X-RAY DIFFRACTION	2
2A3Y	X-RAY DIFFRACTION	2
1GYK	X-RAY DIFFRACTION	2.2
2A3W	X-RAY DIFFRACTION	2.2
1LGN	X-RAY DIFFRACTION	2.8
3D5O	X-RAY DIFFRACTION	2.8
2A3X	X-RAY DIFFRACTION	3
4AVT	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P02743-F1	94.48	0.91

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (8): 157; 167; 77; 78; 155; 155; 156; 157

Disulfide bonds (1): 55–114

Glycosylation sites (1): 51

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-977225	Amyloid fiber formation
R-HSA-392499	Metabolism of proteins

MSigDB gene sets: 154 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_INFLAMMATORY_RESPONSE, GNF2_GSTM1, GNF2_HPN, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GOBP_CHAPERONE_MEDIATED_PROTEIN_COMPLEX_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE, GOBP_HOST_MEDIATED_PERTURBATION_OF_VIRAL_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE, GOBP_WOUND_HEALING

GO Biological Process (11): negative regulation of acute inflammatory response (GO:0002674), protein folding (GO:0006457), acute-phase response (GO:0006953), negative regulation by host of viral glycoprotein metabolic process (GO:0044871), innate immune response (GO:0045087), negative regulation of monocyte differentiation (GO:0045656), host-mediated suppression of symbiont invasion (GO:0046597), negative regulation of viral process (GO:0048525), chaperone-mediated protein complex assembly (GO:0051131), negative regulation of wound healing (GO:0061045), negative regulation of glycoprotein metabolic process (GO:1903019)

GO Molecular Function (8): complement component C1q complex binding (GO:0001849), calcium ion binding (GO:0005509), carbohydrate binding (GO:0030246), identical protein binding (GO:0042802), virion binding (GO:0046790), obsolete unfolded protein binding (GO:0051082), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), extracellular exosome (GO:0070062), blood microparticle (GO:0072562)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
acute inflammatory response	2
glycoprotein metabolic process	2
binding	2
protein binding	2
cellular anatomical structure	2
regulation of acute inflammatory response	1
negative regulation of inflammatory response	1
cellular process	1
protein maturation	1
host-mediated suppression of viral proces	1
modulation by host of viral glycoprotein metabolic process	1
negative regulation of viral process	1
negative regulation of glycoprotein metabolic process	1
immune response	1
defense response to symbiont	1
negative regulation of myeloid leukocyte differentiation	1
monocyte differentiation	1
regulation of monocyte differentiation	1
innate immune response	1
host-mediated perturbation of symbiont process	1
viral process	1
negative regulation of biological process	1
regulation of viral process	1
protein-containing complex assembly	1
negative regulation of response to external stimulus	1
wound healing	1
regulation of wound healing	1
negative regulation of response to wounding	1
negative regulation of protein metabolic process	1
regulation of glycoprotein metabolic process	1
opsonin binding	1
complement binding	1
protein-containing complex binding	1
metal ion binding	1
cation binding	1
intracellular membrane-bounded organelle	1
extracellular vesicle	1
extracellular region	1

Protein interactions and networks

STRING

1191 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
APCS	TTR	P02766	887
APCS	APOE	P02649	872
APCS	FN1	P02751	844
APCS	SAA1	P02735	830
APCS	CERT1	Q9Y5P4	779
APCS	RBP4	P02753	768
APCS	FCGR2A	P12318	713
APCS	APOA1	P02647	690
APCS	CREB3L3	Q68CJ9	689
APCS	OCA2	Q04671	680
APCS	APOA4	P06727	677
APCS	IL6	P05231	655
APCS	VTN	P01141	642
APCS	IFI16	Q16666	632
APCS	FCN3	O75636	630

IntAct

50 interactions, top by confidence:

A	B	Type	Score
APCS	APCS	psi-mi:“MI:0407”(direct interaction)	0.810
CERT1	APCS	psi-mi:“MI:0407”(direct interaction)	0.620
CERT1	APCS	psi-mi:“MI:0407”(direct interaction)	0.560
APCS	ALX1	psi-mi:“MI:0915”(physical association)	0.560
APCS	APP	psi-mi:“MI:0915”(physical association)	0.560
CERT1	APCS	psi-mi:“MI:0915”(physical association)	0.460
CERT1	APCS	psi-mi:“MI:0403”(colocalization)	0.460
MBL2	APCS	psi-mi:“MI:0915”(physical association)	0.400
	LECT2	psi-mi:“MI:0915”(physical association)	0.400
	CD5L	psi-mi:“MI:0915”(physical association)	0.400
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
APCS	COPS5	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (36): APCS (Affinity Capture-MS), APCS (Affinity Capture-Western), APCS (Affinity Capture-Western), APCS (Affinity Capture-MS), ALX1 (Two-hybrid), APCS (Co-crystal Structure), APCS (Co-purification), FCGR3A (Reconstituted Complex), FCGR1A (Reconstituted Complex), FCGR3B (Reconstituted Complex), APCS (Reconstituted Complex), APCS (Reconstituted Complex), APCS (Affinity Capture-Western), APCS (Affinity Capture-Western), APCS (Affinity Capture-MS)

ESM2 similar proteins: A1XQX0, A1XQX2, A1XQX8, A8MV57, D0PRN3, O19062, O19063, P02741, P02742, P02743, P06205, P06206, P06207, P07629, P12246, P14847, P15697, P23680, P47971, P48199, P49254, P49255, P49262, P49263, Q07203, Q07310, Q0IIP8, Q0V8S9, Q0V8T0, Q0V8T3, Q0V8T4, Q0V8T5, Q0V8T6, Q0V8T7, Q0V8T8, Q0V8T9, Q15818, Q3T004, Q3T166, Q62443

Diamond homologs: A0A1D5NSM8, A0JNA2, A2AVA0, A2AX52, D3YXF5, O02839, O19063, O35764, O43405, O70340, O76536, O89029, O95502, O96530, P02741, P02743, P06205, P06206, P06207, P06681, P07202, P07629, P08607, P09871, P0C6B8, P10643, P12246, P13944, P14151, P14847, P15697, P18337, P23680, P32018, P47970, P47971, P47972, P48199, P49254, P49262

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

35 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

69 predictions. Top by Δscore:

Variant	Effect	Δscore
1:159587983:CAGGT:C	donor_loss	0.9900
1:159588099:A:AG	acceptor_gain	0.9900
1:159588100:G:GG	acceptor_gain	0.9900
1:159587967:G:GT	donor_gain	0.9800
1:159587986:G:GG	donor_gain	0.9800
1:159588097:GCA:G	acceptor_loss	0.9700
1:159588098:CA:C	acceptor_loss	0.9700
1:159588099:A:C	acceptor_loss	0.9700
1:159588100:G:GA	acceptor_loss	0.9700
1:159588100:GA:G	acceptor_gain	0.9400
1:159588100:GAC:G	acceptor_gain	0.9400
1:159588093:T:G	acceptor_gain	0.9200
1:159588096:C:A	acceptor_gain	0.9200
1:159587981:CACAG:C	donor_gain	0.9000
1:159588100:GACCT:G	acceptor_gain	0.9000
1:159587983:CAG:C	donor_gain	0.8900
1:159587995:TG:T	donor_gain	0.8900
1:159588092:ATCCC:A	acceptor_gain	0.8800
1:159587991:G:GT	donor_gain	0.8600
1:159588100:GACC:G	acceptor_gain	0.8200
1:159587985:GGT:G	donor_gain	0.8000
1:159587986:GTA:G	donor_gain	0.8000
1:159588092:A:AG	acceptor_gain	0.8000
1:159587984:AGGT:A	donor_gain	0.7700
1:159587987:T:A	donor_gain	0.7600
1:159587982:ACAG:A	donor_gain	0.7400
1:159587983:CAGG:C	donor_gain	0.7300
1:159588096:CGCAG:C	acceptor_gain	0.7300
1:159587984:AG:A	donor_gain	0.7200
1:159587985:GG:G	donor_gain	0.7200

AlphaMissense

1449 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:159588124:T:C	F30L	0.974
1:159588126:T:A	F30L	0.974
1:159588126:T:G	F30L	0.974
1:159588387:G:C	W117C	0.967
1:159588387:G:T	W117C	0.967
1:159588125:T:G	F30C	0.962
1:159588523:T:C	F163L	0.962
1:159588525:T:A	F163L	0.962
1:159588525:T:G	F163L	0.962
1:159588214:A:C	S60R	0.957
1:159588216:T:A	S60R	0.957
1:159588216:T:G	S60R	0.957
1:159588235:A:C	S67R	0.957
1:159588237:C:A	S67R	0.957
1:159588237:C:G	S67R	0.957
1:159588573:G:C	W179C	0.949
1:159588573:G:T	W179C	0.949
1:159588241:T:C	F69L	0.944
1:159588243:C:A	F69L	0.944
1:159588243:C:G	F69L	0.944
1:159588648:G:C	W204C	0.943
1:159588648:G:T	W204C	0.943
1:159588504:G:C	Q156H	0.942
1:159588504:G:T	Q156H	0.942
1:159588125:T:C	F30S	0.941
1:159588242:T:C	F69S	0.938
1:159588288:A:C	K84N	0.931
1:159588288:A:T	K84N	0.931
1:159588281:T:A	V82D	0.928
1:159588199:T:C	C55R	0.927

dbSNP variants (sampled 300 via entrez): RS1000102078 (1:159588417 G>T), RS1002441835 (1:159586909 G>A,C), RS1002494109 (1:159587322 T>C), RS1003344971 (1:159588226 C>G,T), RS1004949853 (1:159588762 G>A,T), RS1005410255 (1:159589030 C>T), RS1006008917 (1:159587608 C>A), RS1006091168 (1:159586126 T>A,C), RS1006370828 (1:159587413 T>A,C), RS1007181117 (1:159586157 ATTGT>A), RS1009192883 (1:159589038 C>A), RS1009739965 (1:159586826 A>C), RS1010186302 (1:159588091 T>C), RS1010267369 (1:159586547 A>G), RS1012036141 (1:159588578 C>G)

Disease associations

OMIM: gene MIM:104770 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001650_1	C-reactive protein	1.000000e-37
GCST001650_11	C-reactive protein	3.000000e-10
GCST001650_8	C-reactive protein	4.000000e-73
GCST006585_964	Blood protein levels	2.000000e-27
GCST011780_2	Neonatal white matter microstructure	8.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004458	C-reactive protein measurement
EFO:0005674	white matter microstructure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4929 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — Serum pentraxins

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
miridesap	Binding	6.05	pIC50

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression	3
Aflatoxin B1	affects expression, decreases expression, decreases methylation	3
Cyclosporine	decreases expression	2
methyleugenol	decreases expression	1
bisphenol A	affects cotreatment, increases methylation	1
titanium dioxide	decreases expression	1
sodium arsenite	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Valsartan	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Troglitazone	decreases expression	1
Acetaminophen	decreases expression	1
Gemcitabine	decreases expression	1
Arsenic	affects methylation	1
Cadmium	affects binding	1
Cocaine	increases expression	1
Copper	affects binding	1
Estradiol	decreases expression	1
Heparin	increases expression	1
Lead	affects binding	1
Lipopolysaccharides	increases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Nickel	affects binding	1
Ozone	increases abundance, increases expression	1
Tamoxifen	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Zinc	affects binding	1
Okadaic Acid	decreases expression	1
Soot	increases abundance, increases expression	1

ChEMBL screening assays

21 unique, capped per target: 21 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3882249	Binding	Inhibition of serum amyloid P-component (unknown origin) binding to immobilized amyloid beta 1 to 42 fibrils at 500 umol/L in presence of calcium by surface plasma resonance	Compounds inhibiting the binding of sap for treating osteoarthritis

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.