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; AllianceGenome:HGNC:10489
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
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Genomic context

Location:: 1q21.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153373711..153375621, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152510935..152512845, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153346187..153348097, 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 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?

S100A12 is involved in the pathology of osteoarthritis by promoting M1 macrophage polarization via the NF-kappaB pathway.
Title: S100A12 is involved in the pathology of osteoarthritis by promoting M1 macrophage polarization via the NF-κB pathway.
Impact of C- and N-terminal protection on the stability, metal chelation and antimicrobial properties of calcitermin.
Title: Impact of C- and N-terminal protection on the stability, metal chelation and antimicrobial properties of calcitermin.
Multivariate analyses of immune markers reveal increases in plasma EN-RAGE in first-episode psychosis patients.
Title: Multivariate analyses of immune markers reveal increases in plasma EN-RAGE in first-episode psychosis patients.
Increased serum S100A12 levels are associated with higher risk of acute heart failure in patients with type 2 diabetes.
Title: Increased serum S100A12 levels are associated with higher risk of acute heart failure in patients with type 2 diabetes.
S100 calcium-binding protein A12 knockdown ameliorates hypoxia-reoxygenation-induced inflammation and apoptosis in human cardiomyocytes by regulating caspase-4-mediated non-classical pyroptosis.
Title: S100 calcium-binding protein A12 knockdown ameliorates hypoxia-reoxygenation-induced inflammation and apoptosis in human cardiomyocytes by regulating caspase-4-mediated non-classical pyroptosis.
Fecal S100A12 in Takayasu arteritis predicts disease activity and intestinal involvement.
Title: Fecal S100A12 in Takayasu arteritis predicts disease activity and intestinal involvement.
Evaluation of S100A12 and Apo-A1 plasma level potency in untreated new relapsing-remitting multiple sclerosis patients and their family members.
Title: Evaluation of S100A12 and Apo-A1 plasma level potency in untreated new relapsing-remitting multiple sclerosis patients and their family members.
Serum S100A12 levels: Possible association with skin sclerosis and interstitial lung disease in systemic sclerosis.
Title: Serum S100A12 levels: Possible association with skin sclerosis and interstitial lung disease in systemic sclerosis.
Study on the relationship between the expression of S100A12, CaSR, and IL-7R in the synovium of knee osteoarthritis and angiogenesis.
Title: Study on the relationship between the expression of S100A12, CaSR, and IL-7R in the synovium of knee osteoarthritis and angiogenesis.
Associations of Serum S100A12 With Severity and Prognosis in Patients With Community-Acquired Pneumonia: A Prospective Cohort Study.
Title: Associations of Serum S100A12 With Severity and Prognosis in Patients With Community-Acquired Pneumonia: A Prospective Cohort Study.

Submit: New GeneRIF Correction See all GeneRIFs (130)

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RAGE receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables RAGE receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables RAGE receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RAGE receptor binding	TAS Traceable Author Statement more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	TAS Traceable Author Statement more info	PubMed
enables calcium-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables copper ion binding	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IBA Inferred from Biological aspect of Ancestor more info
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to bacterium	TAS Traceable Author Statement more info	PubMed
involved_in defense response to fungus	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to fungus	TAS Traceable Author Statement more info	PubMed
involved_in endothelial cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	TAS Traceable Author Statement more info	PubMed
involved_in killing of cells of another organism	IDA Inferred from Direct Assay more info	PubMed
involved_in mast cell activation	TAS Traceable Author Statement more info	PubMed
involved_in monocyte chemotaxis	TAS Traceable Author Statement more info	PubMed
involved_in neutrophil chemotaxis	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of MAP kinase activity	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of inflammatory response	TAS Traceable Author Statement more info	PubMed
involved_in xenobiotic metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in 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, P83219, Q5SY66, Q7M4R1

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, ...