S100A2 S100 calcium binding protein A2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: S100A2provided by HGNC
Official Full Name: S100 calcium binding protein A2provided by HGNC
Primary source: HGNC:HGNC:10492
See related: Ensembl:ENSG00000196754 MIM:176993; AllianceGenome:HGNC:10492
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: CAN19; S100L
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 may have a tumor suppressor function. Chromosomal rearrangements and altered expression of this gene have been implicated in breast cancer. [provided by RefSeq, Jul 2008]
Expression: Biased expression in esophagus (RPKM 199.3), urinary bladder (RPKM 56.6) and 2 other tissues See more
Orthologs: all
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Genomic context

Location:: 1q21.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153561108..153565844, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152698363..152703111, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153533584..153538320, 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?

Multi-omics Analysis Identifies Hypoxia Subtypes and S100A2 as an Immunosuppressive Factor in Cervical Cancer.
Title: Multi-omics Analysis Identifies Hypoxia Subtypes and S100A2 as an Immunosuppressive Factor in Cervical Cancer.
NFIC1 inhibits the migration and invasion of MDA-MB-231 cells through S100A2-mediated inactivation of MEK/ERK pathway.
Title: NFIC1 inhibits the migration and invasion of MDA-MB-231 cells through S100A2-mediated inactivation of MEK/ERK pathway.
Transcriptional activation of S100A2 expression by HIF-1alpha via binding to the hypomethylated hypoxia response elements in HCC cells.
Title: Transcriptional activation of S100A2 expression by HIF-1α via binding to the hypomethylated hypoxia response elements in HCC cells.
High expression of S100A2 predicts poor prognosis in patients with endometrial carcinoma.
Title: High expression of S100A2 predicts poor prognosis in patients with endometrial carcinoma.
High S100A2 expression in keratinocytes in patients with drug eruption.
Title: High S100A2 expression in keratinocytes in patients with drug eruption.
S100A2: A potential biomarker to differentiate malignant from tuberculous pleural effusion.
Title: S100A2: A potential biomarker to differentiate malignant from tuberculous pleural effusion.
S100A2 promotes glycolysis and proliferation via GLUT1 regulation in colorectal cancer.
Title: S100A2 promotes glycolysis and proliferation via GLUT1 regulation in colorectal cancer.
S100A2 Silencing Relieves Epithelial-Mesenchymal Transition in Pulmonary Fibrosis by Inhibiting the Wnt/beta-Catenin Signaling Pathway.
Title: S100A2 Silencing Relieves Epithelial-Mesenchymal Transition in Pulmonary Fibrosis by Inhibiting the Wnt/β-Catenin Signaling Pathway.
Expression Profile of S100A2 and its Clinicopathological Significance in Renal Cell Carcinoma.
Title: Expression Profile of S100A2 and its Clinicopathological Significance in Renal Cell Carcinoma.
p53-S100A2 positive feedback loop regulates wound repair process
Title: The p53-S100A2 Positive Feedback Loop Negatively Regulates Epithelialization in Cutaneous Wound Healing.

Submit: New GeneRIF Correction See all GeneRIFs (57)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	NAS Non-traceable Author Statement more info	PubMed
enables calcium-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transition metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in endothelial cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info

General protein information

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Preferred Names: protein S100-A2

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_001366406.1 → NP_001353335.1 protein S100-A2 isoform 2

Status: REVIEWED

Source sequence(s)

BX470102

Consensus CDS

CCDS91059.1

UniProtKB/TrEMBL

A6NDF0, Q5RHS7

Conserved Domains (1) summary

cd00213
Location:4 → 56

S-100; S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 proteins are ...
NM_001366407.1 → NP_001353336.1 protein S100-A2 isoform 3

Status: REVIEWED

Source sequence(s)

BX470102

Consensus CDS

CCDS91058.1

UniProtKB/TrEMBL

R4GN49

Related

ENSP00000473489.1, ENST00000497140.5

Conserved Domains (1) summary

cd00213
Location:1 → 57

S-100; S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 proteins are ...
NM_005978.4 → NP_005969.2 protein S100-A2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

BX470102

Consensus CDS

CCDS1044.2

UniProtKB/Swiss-Prot

O00266, P29034, Q3KRB9, Q5RHS8, Q9BU83

Related

ENSP00000357697.4, ENST00000368708.9

Conserved Domains (1) summary

cd00213
Location:4 → 91

S-100; S-100: S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 ...