S100A12 S100 calcium binding protein A12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: S100A12provided by HGNC
Official Full Name: S100 calcium binding protein A12provided by HGNC
Primary source: HGNC:HGNC:10489
See related: Ensembl:ENSG00000163221 MIM:603112
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p6; CAGC; CGRP; MRP6; CAAF1; MRP-6; ENRAGE
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 cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. The protein includes an antimicrobial peptide which has antibacterial activity. [provided by RefSeq, Nov 2014]
Expression: Restricted expression toward bone marrow (RPKM 747.5) See more
Orthologs: all

Genomic context

Location:: 1q21.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (153373711..153375621, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153346184..153348075, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

mRNA expression of TLR4 and its ligand S100A8, S100A9, and S100A12 in peripheral blood mononuclear cells of Takayasu arteritis patients was higher as compared to healthy controls.
Title: High expression of S100 calgranulin genes in peripheral blood mononuclear cells from patients with Takayasu arteritis.
Investigated association of serum S100 calcium binding protein A12 (S100A12) and S100 calcium binding protein B (S100B) levels with the presence and severity of obstructive sleep apnea (OSA) and the possibility that these proteins might be useful biomarkers in diagnosing and classifying severity of OSA.
Title: Serum S100A12 and S100B proteins are independent predictors of the presence and severity of obstructive sleep apnea
Serum S100A12 is elevated and reflects disease severity in the tuberculosis patients with diabetes.
Title: Systemic RAGE ligands are upregulated in tuberculosis individuals with diabetes co-morbidity and modulated by anti-tuberculosis treatment and metformin therapy.
Ca(2+) binding to S100A12's EF-hand motifs and Zn(2+) binding to its dimeric interface cooperate to induce reversible self-assembly of S100 calcium binding protein A12 (S100A12).
Title: Ca(II) and Zn(II) Cooperate To Modulate the Structure and Self-Assembly of S100A12.
In its role as a highly expressed mediator of sterile inflammation in Kawasaki disease, S100A12 appears to activate human coronary artery endothelial cells in an IL-1beta-dependent manner. These data provide new mechanistic insights into the contributions of S100A12 and IL-1beta to disease pathogenesis.
Title: Monocyte-Derived Interleukin-1β As the Driver of S100A12-Induced Sterile Inflammatory Activation of Human Coronary Artery Endothelial Cells: Implications for the Pathogenesis of Kawasaki Disease.
High S100A12 expression due to DNA hypermethylation is associated with inflammation in cystic fibrosis.
Title: DNA Methylation Regulates RGS2-induced S100A12 Expression in Airway Epithelial Cells.
In the active phase, S100A12 levels were significantly higher in patients with systemic juvenile idiopathic arthritis and familial Mediterranean fever compared with those with Blau syndrome.
Title: S100A12 and vascular endothelial growth factor can differentiate Blau syndrome and familial Mediterranean fever from systemic juvenile idiopathic arthritis.
the direct effects of S100A12 on human osteoclasts in vitro, were examined.
Title: S100A12 facilitates osteoclast differentiation from human monocytes.
serum S100A12 levels were higher in juvenile idiopathic arthritis patients
Title: A Granulocyte-Specific Protein S100A12 as a Potential Prognostic Factor Affecting Aggressiveness of Therapy in Patients with Juvenile Idiopathic Arthritis.
S100A12 is differentially expressed in chronic rhinosinusitis subtypes and is significantly elevated in patients with chronic rhinosinusitis with nasal polyps and associated with chronic rhinosinusitis-specific disease severity
Title: Calgranulin C (S100A12) Is Differentially Expressed in Subtypes of Chronic Rhinosinusitis.

Submit: New GeneRIF Correction See all GeneRIFs (105)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54103 (e-PCR)
- UniSTS:109340

WI-17060 (e-PCR)
- UniSTS:63450

Homology

Homologs of the S100A12 gene: The S100A12 gene is conserved in chimpanzee, dog, and cow.
Orthologs from Annotation Pipeline: 91 organisms have orthologs with human gene S100A12
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
RAGE receptor binding	IDA Inferred from Direct Assay more info	PubMed
RAGE receptor binding	IPI Inferred from Physical Interaction more info	PubMed
RAGE receptor binding	TAS Traceable Author Statement more info	PubMed
calcium ion binding	TAS Traceable Author Statement more info	PubMed
copper ion binding	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
cytokine secretion	TAS Traceable Author Statement more info	PubMed
defense response to bacterium	TAS Traceable Author Statement more info	PubMed
defense response to fungus	IDA Inferred from Direct Assay more info	PubMed
defense response to fungus	TAS Traceable Author Statement more info	PubMed
inflammatory response	IEA Inferred from Electronic Annotation more info
innate immune response	TAS Traceable Author Statement more info	PubMed
killing of cells of other organism	IDA Inferred from Direct Assay more info	PubMed
mast cell activation	TAS Traceable Author Statement more info	PubMed
monocyte chemotaxis	TAS Traceable Author Statement more info	PubMed
neutrophil chemotaxis	TAS Traceable Author Statement more info	PubMed
neutrophil degranulation	TAS Traceable Author Statement more info
positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA Inferred from Direct Assay more info	PubMed
positive regulation of MAP kinase activity	TAS Traceable Author Statement more info	PubMed
positive regulation of NF-kappaB transcription factor activity	TAS Traceable Author Statement more info	PubMed
positive regulation of inflammatory response	TAS Traceable Author Statement more info	PubMed
xenobiotic metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoskeleton	TAS Traceable Author Statement more info	PubMed
cytosol	TAS Traceable Author Statement more info	PubMed
extracellular region	TAS Traceable Author Statement more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info	PubMed
secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein S100-A12

Names: EN-RAGE; calcitermin; calcium-binding protein in amniotic fluid 1; calgranulin C; extracellular newly identified RAGE-binding protein; migration inhibitory factor-related protein 6; neutrophil S100 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005621.2 → NP_005612.1 protein S100-A12

See identical proteins and their annotated locations for NP_005612.1

Status: REVIEWED

Source sequence(s)

AL591704, D83664

Consensus CDS

CCDS1037.1

UniProtKB/Swiss-Prot

P80511

Related

ENSP00000357726.3, ENST00000368737.5

Conserved Domains (1) summary

cd05030
Location:2 → 89

calgranulins; Calgranulins: S-100 domain found in proteins belonging to the Calgranulin subgroup of the S100 family of EF-hand calcium-modulated proteins, including S100A8, S100A9, and S100A12 . Note that the S-100 hierarchy, to which this Calgranulin group belongs, ...