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    SAA2 serum amyloid A2 [ Homo sapiens (human) ]

    Gene ID: 6289, updated on 27-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (18238236..18248668, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (18333734..18344170, complement)
    RS_2024_09 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. 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
    2. Serum amyloid A1 alleles and plasma concentrations of serum amyloid A. Yamada T, et al. Amyloid, 1999 Sep. PMID 10524285
    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. 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
    5. Influence of Serum Amyloid A (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/C-reactive protein values in patients with familial mediterranean fever in the Turkish population. Bakkaloglu A, et al. J Rheumatol, 2004 Jun. PMID 15170927

    See all (63) 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)

    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, P0DJI9
      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, P0DJI9
      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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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