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    SAA2 serum amyloid A2 [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough SAA2-SAA4

    Readthrough gene: SAA2-SAA4, Included gene: SAA4

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001127380.3NP_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:2577
      SAA; Serum amyloid A protein
    2. NM_001385666.1NP_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:25122
      SAA; Serum amyloid A protein
    3. NM_001385667.1NP_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:2577
      SAA; Serum amyloid A protein
    4. NM_001385668.1NP_001372597.1  serum amyloid A-2 protein isoform c preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC090099
    5. NM_001385669.1NP_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:2580
      SAA; Serum amyloid A protein
    6. NM_001385670.1NP_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:2591
      SAA; Serum amyloid A protein
    7. NM_001385671.1NP_001372600.1  serum amyloid A-2 protein isoform f

      Status: REVIEWED

      Source sequence(s)
      AC090099
      Conserved Domains (1) summary
      pfam00277
      Location:188
      SAA; Serum amyloid A protein
    8. NM_001385672.1NP_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:2577
      SAA; Serum amyloid A protein
    9. NM_001385673.1NP_001372602.1  serum amyloid A-2 protein isoform h

      Status: REVIEWED

      Source sequence(s)
      AC090099
    10. NM_030754.5NP_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:25122
      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)