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SAA2 serum amyloid A2 [ Homo sapiens (human) ]

Gene ID: 6289, updated on 3-Apr-2024

Summary

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Official Symbol
SAA2provided by HGNC
Official Full Name
serum amyloid A2provided by HGNC
Primary source
HGNC:HGNC:10514
See related
Ensembl:ENSG00000134339 MIM:104751; AllianceGenome:HGNC:10514
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
SAA; SAA1
Summary
This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. [provided by RefSeq, Jul 2020]
Expression
Biased expression in liver (RPKM 216.6), fat (RPKM 172.8) and 1 other tissue See more
Orthologs
all
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Genomic context

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See SAA2 in Genome Data Viewer
Location:
11p15.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (18238236..18248668, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (18333734..18344170, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18259783..18270215, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene SLC25A51 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18243023-18243523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3190 Neighboring gene SAA2-SAA4 readthrough Neighboring gene serum amyloid A4, constitutive Neighboring gene Sharpr-MPRA regulatory regions 9378 and 7495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4492 Neighboring gene RNA, 5S ribosomal pseudogene 333 Neighboring gene ST13, Hsp70 interacting protein pseudogene 5 Neighboring gene RNA, 5S ribosomal pseudogene 334 Neighboring gene serum amyloid A1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Serum amyloid A1 alleles and plasma concentrations of serum amyloid A. Yamada T, et al. Amyloid, 1999 Sep. PMID 10524285
  2. Transformation from SAA2-fibrils to AA-fibrils in amyloid fibrillogenesis: in vivo observations in murine spleen using anti-SAA and anti-AA antibodies. Arai K, et al. J Pathol, 1994 Jun. PMID 8089807
  3. Characterization of amyloid A protein in human secondary amyloidosis: the predominant deposition of serum amyloid A1. Liepnieks JJ, et al. Biochim Biophys Acta, 1995 Jan 25. PMID 7827140
  4. Amyloidogenesis. One serum amyloid A isotype is selectively removed from the circulation. Meek RL, et al. J Exp Med, 1986 Mar 1. PMID 3950541, Free PMC Article
  5. The rate and significance of type 1/type 2 serum amyloid A protein gene polymorphisms in patients with ankylosing spondylitis and amyloidosis. Yildirim Cetin G, et al. Amyloid, 2015. PMID 26300108

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Elevated expression of interleukin-6 (IL-6) and serum amyloid A (SAA) in the skin and the serum of recessive dystrophic epidermolysis bullosa: Skin as a possible source of IL-6 through Toll-like receptor ligands and SAA.
    Title: Elevated expression of interleukin-6 (IL-6) and serum amyloid A (SAA) in the skin and the serum of recessive dystrophic epidermolysis bullosa: Skin as a possible source of IL-6 through Toll-like receptor ligands and SAA.
  2. Serum amyloid A is a soluble pattern recognition receptor that drives type 2 immunity.
    Title: Serum amyloid A is a soluble pattern recognition receptor that drives type 2 immunity.
  3. SAA2 displays antimicrobial activity against S. aureus and E. coli.
    Title: Serum amyloid A exhibits pH dependent antibacterial action and contributes to host defense against Staphylococcus aureus cutaneous infection.
  4. after stimulation by various pro-inflammatory conditions, changes in SAA1, SAA2 and SAA4 gene expression at both the transcriptional and protein levels were evaluated during maturation of freshly collected human monocytes into macrophages.
    Title: Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages.
  5. The prevalence of the SAA2 polymorphisms (rs 2445174 and rs2468844) did not differ significantly between the groups of ankylosing spondylitis patients with and without amyloidosis.
    Title: The rate and significance of type 1/type 2 serum amyloid A protein gene polymorphisms in patients with ankylosing spondylitis and amyloidosis.
  6. Pathogenic serum amyloid A 1.1 shows a long oligomer-rich fibrillation lag phase contrary to the highly amyloidogenic non-pathogenic SAA2.2
    Title: Pathogenic serum amyloid A 1.1 shows a long oligomer-rich fibrillation lag phase contrary to the highly amyloidogenic non-pathogenic SAA2.2.
  7. successful quantification of SAA2 in crude serum by MRM, for the first time, shows that SAA2 can be a good biomarker for the detection of lung cancers.
    Title: Large-scale isotype-specific quantification of Serum amyloid A 1/2 by multiple reaction monitoring in crude sera.
  8. Data show that both rs12218 of the SAA1 gene and rs2468844 of SAA2 gene are associated with carotid IMT in healthy Han Chinese subjects.
    Title: Polymorphisms in the SAA1/2 gene are associated with carotid intima media thickness in healthy Han Chinese subjects: the Cardiovascular Risk Survey.
  9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction See all GeneRIFs (18)

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

EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough SAA2-SAA4

Readthrough gene: SAA2-SAA4, Included gene: SAA4

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in acute-phase response IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
part_of high-density lipoprotein particle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
serum amyloid A-2 protein
Names
Serum amyloid A-1 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)

  1. NM_001127380.3 → NP_001120852.1  serum amyloid A-2 protein isoform b preproprotein

    See identical proteins and their annotated locations for NP_001120852.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has an alternate 3' exon compared to variant 3. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 2 and 4 both encode the same isoform (b).
    Source sequence(s)
    AC090099, AK307163, CB241029
    Consensus CDS
    CCDS44548.1
    UniProtKB/TrEMBL
    A0A3B3ISW8
    Related
    ENSP00000416716.2, ENST00000414546.6
    Conserved Domains (1) summary
    cl02506
    Location:25 → 77
    SAA; Serum amyloid A protein

  2. NM_001385666.1 → NP_001372595.1  serum amyloid A-2 protein isoform a preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 3 both encode the same isoform (a).
    Source sequence(s)
    AC090099
    Consensus CDS
    CCDS7833.1
    UniProtKB/Swiss-Prot
    G3XAK9, P02735, P02736, P02737, P0DJI9, Q16730, Q16834, Q16835, Q16879, Q3KRB3, Q6FG67, Q96QN0, Q9UCK9, Q9UCL0
    Related
    ENSP00000437162.1, ENST00000529528.5
    Conserved Domains (1) summary
    pfam00277
    Location:25 → 122
    SAA; Serum amyloid A protein

  3. NM_001385667.1 → NP_001372596.1  serum amyloid A-2 protein isoform b preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate 3' exon compared to variant 3. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 2 and 4 both encode the same isoform (b).
    Source sequence(s)
    AC090099
    Consensus CDS
    CCDS44548.1
    UniProtKB/TrEMBL
    A0A3B3ISW8
    Conserved Domains (1) summary
    cl02506
    Location:25 → 77
    SAA; Serum amyloid A protein

  4. NM_001385668.1 → NP_001372597.1  serum amyloid A-2 protein isoform c preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC090099

  5. NM_001385669.1 → NP_001372598.1  serum amyloid A-2 protein isoform d preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC090099
    UniProtKB/TrEMBL
    A0A0D6A0A8
    Conserved Domains (1) summary
    cl02506
    Location:25 → 80
    SAA; Serum amyloid A protein

  6. NM_001385670.1 → NP_001372599.1  serum amyloid A-2 protein isoform e preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC090099
    UniProtKB/TrEMBL
    A0A0D6A0A8
    Conserved Domains (1) summary
    cl02506
    Location:25 → 91
    SAA; Serum amyloid A protein

  7. NM_001385671.1 → NP_001372600.1  serum amyloid A-2 protein isoform f

    Status: REVIEWED

    Source sequence(s)
    AC090099
    Conserved Domains (1) summary
    pfam00277
    Location:1 → 88
    SAA; Serum amyloid A protein

  8. NM_001385672.1 → NP_001372601.1  serum amyloid A-2 protein isoform g preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC090099
    UniProtKB/TrEMBL
    A0A3B3ISW8
    Conserved Domains (1) summary
    cl02506
    Location:25 → 77
    SAA; Serum amyloid A protein

  9. NM_001385673.1 → NP_001372602.1  serum amyloid A-2 protein isoform h

    Status: REVIEWED

    Source sequence(s)
    AC090099

  10. NM_030754.5 → NP_110381.2  serum amyloid A-2 protein isoform a preproprotein

    See identical proteins and their annotated locations for NP_110381.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1 and 3 both encode the same isoform (a).
    Source sequence(s)
    AC090099, BC020795, M23700, X51445
    Consensus CDS
    CCDS7833.1
    UniProtKB/Swiss-Prot
    G3XAK9, P02735, P02736, P02737, P0DJI9, Q16730, Q16834, Q16835, Q16879, Q3KRB3, Q6FG67, Q96QN0, Q9UCK9, Q9UCL0
    Related
    ENSP00000256733.5, ENST00000256733.9
    Conserved Domains (1) summary
    pfam00277
    Location:25 → 122
    SAA; Serum amyloid A protein

RNA

  1. NR_169749.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC090099

  2. NR_169750.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC090099

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    18238236..18248668 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    18333734..18344170 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DJI9.1 GenPept UniProtKB/Swiss-Prot:P0DJI9

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