S100A12 (S100 calcium binding protein A12)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6283
Gene name S100 calcium binding protein A12
Gene symbol S100A12
Synonyms (NCBI Gene)
CAAF1CAGCCGRPENRAGEMRP-6MRP6p6
Chromosome 1
Chromosome location 1q21.3
Summary The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of ce
miRNA miRNA information provided by mirtarbase database.
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT437615 hsa-miR-146a-5p MicroarrayqRT-PCR 22815788
MIRT437621 hsa-miR-146b-5p MicroarrayqRT-PCR 22815788
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (51)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0002548 Process Monocyte chemotaxis TAS 18443896
GO:0005507 Function Copper ion binding TAS 18443896
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603112 10489 ENSG00000163221
Protein Protein information from UniProt database.
Gene miRNA 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.
P80511
Protein name Protein S100-A12 (CGRP) (Calcium-binding protein in amniotic fluid 1) (CAAF1) (Calgranulin-C) (CAGC) (Extracellular newly identified RAGE-binding protein) (EN-RAGE) (Migration inhibitory factor-related protein 6) (MRP-6) (p6) (Neutrophil S100 protein) (S1
Protein function S100A12 is a calcium-, zinc- and copper-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. Its pro-inflammatory activity involves recruitment of leukocytes, promotion of cytokine and che
PDB 1E8A , 1GQM , 1ODB , 2M9G , 2WC8 , 2WCB , 2WCE , 2WCF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01023 S_100 4 → 46 S-100/ICaBP type calcium binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed by neutrophils, monocytes and activated macrophages. Expressed by eosinophils and macrophages in asthmatic airways in regions where mast cells accumulate. Found in high concentrations in the serum of patients su
Sequence 
MTKLEEHLEGIVNIFHQYSVRKGHFDTLSKGELKQLLTKELANTIKNIKDKAVIDEIFQG
LDANQDEQVDFQEFISLVAIALKAAHYHTHKE
Sequence length 92
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Neutrophil degranulation
Advanced glycosylation endproduct receptor signaling
TRAF6 mediated NF-kB activation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA 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 (2)
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
MOUTH DISEASES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (218)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 28157385, 31181415
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 29393354
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 3488930
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 23533003, 36569892 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 30406853
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28971699
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 28971699
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 19875725
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Thoracic Aortic Aneurysm BEFREE 22818064
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Diseases Aortic Diseases BEFREE 22818064, 28816402
★★★★★
★☆☆☆☆
Found in Text Mining only