APCS (amyloid P component, serum)

Gene Gene information from NCBI Gene database.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 325
Gene name Amyloid P component, serum
Gene symbol APCS
Synonyms (NCBI Gene)
HEL-S-92nPTX2SAP
Chromosome 1
Chromosome location 1q23.2
Summary 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 dupli
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
TP53 Activation 15378026
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (36)
GO ID Ontology Definition Evidence Reference
GO:0001849 Function Complement component C1q complex binding IBA
GO:0001849 Function Complement component C1q complex binding IDA 23544079
GO:0001849 Function Complement component C1q complex binding IEA
GO:0002674 Process Negative regulation of acute inflammatory response IC 14607961
GO:0005509 Function Calcium ion binding IDA 23544079
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
104770 584 ENSG00000132703
Protein Protein information from UniProt database.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02743
Protein name Serum amyloid P-component (SAP) (9.5S alpha-1-glycoprotein) [Cleaved into: Serum amyloid P-component(1-203)]
Protein 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.
PDB 1GYK , 1LGN , 1SAC , 2A3W , 2A3X , 2A3Y , 2W08 , 3D5O , 3KQR , 4AVS , 4AVT , 4AVV , 4AYU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00354 Pentaxin 26 → 219 Pentaxin family Domain
Tissue specificity TISSUE SPECIFICITY: Found in serum and urine. {ECO:0000269|PubMed:15174148}.
Sequence
Sequence length 223
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Amyloid fiber formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (11)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYLOIDOSIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (110)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
AA amyloidosis AA amyloidosis BEFREE 10024914, 14640037
★★★★★
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 15320910, 29083052
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 23136988, 28233628
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 11431691, 25999144
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28331492, 29921391, 30473463, 31034143
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia BEFREE 23280491
★★★★★
★☆☆☆☆
Found in Text Mining only
Alkaptonuria Alkaptonuria BEFREE 22850426
★★★★★
★☆☆☆☆
Found in Text Mining only
Alkaptonuria Alkaptonuria Pubtator 22850426 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 29860944, 30862745 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloid nephropathy Amyloid Nephropathy BEFREE 22938848
★★★★★
★☆☆☆☆
Found in Text Mining only