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AGER advanced glycosylation end-product specific receptor [ Homo sapiens (human) ]

Gene ID: 177, updated on 8-Jul-2018
Official Symbol
AGERprovided by HGNC
Official Full Name
advanced glycosylation end-product specific receptorprovided by HGNC
Primary source
HGNC:HGNC:320
See related
Ensembl:ENSG00000204305 MIM:600214; Vega:OTTHUMG00000031120
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
RAGE; SCARJ1
Summary
The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]
Expression
Biased expression in lung (RPKM 397.6) and spleen (RPKM 11.0) See more
Orthologs
See AGER in Genome Data Viewer
Location:
6p21.32
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (32180968..32184380, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32148745..32152099, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 1 Neighboring gene microRNA 6721 Neighboring gene microRNA 6833 Neighboring gene ring finger protein 5 Neighboring gene PBX homeobox 2 Neighboring gene G protein signaling modulator 3 Neighboring gene notch 4

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study identifies five loci associated with lung function.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates OCLN (occludin) and LRP1 and upregulates AGER (RAGE), and in a RhoA/ROCK1 dependent manner as shown through hydroxyfasudil inhibition in hCMEC/D3 cells PubMed
capsid gag RAGE inhibits the release of HIV-1 in terms of reduced levels of CA in virus particles and induces the accumulation of cell-associated CA PubMed

Go to the HIV-1, Human Interaction Database

  • AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystem (from KEGG)
    AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
  • AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
    AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
  • AGE/RAGE pathway, organism-specific biosystem (from WikiPathways)
    AGE/RAGE pathway, organism-specific biosystemAdvanced glycation end products (AGEs) are heterogeneous group of non-enzymatic malliard reaction products of aldose sugar with proteins and lipids. Formation of AGEs is an indicator of one of the ma...
  • Activated TLR4 signalling, organism-specific biosystem (from REACTOME)
    Activated TLR4 signalling, organism-specific biosystemTLR4 is unique among the TLR family in its ability to recruit four adapters to activate two distinct signaling pathways. One pathway is activated by the pair of the adapters Mal or TIRAP (Toll/inter...
  • Advanced glycosylation endproduct receptor signaling, organism-specific biosystem (from REACTOME)
    Advanced glycosylation endproduct receptor signaling, organism-specific biosystemAdvanced Glycosylation End- product-specific Receptor (AGER) also known as Receptor for Advanced Glycation End-products (RAGE) is a multi-ligand membrane receptor belonging to the immunoglobulin supe...
  • Cytosolic sensors of pathogen-associated DNA, organism-specific biosystem (from REACTOME)
    Cytosolic sensors of pathogen-associated DNA, organism-specific biosystemPresence of pathogen-associated DNA in cytosol induces type I IFN production. Several intracellular receptors have been implicated to some degree. These include DNA-dependent activator of interferon ...
  • DEx/H-box helicases activate type I IFN and inflammatory cytokines production, organism-specific biosystem (from REACTOME)
    DEx/H-box helicases activate type I IFN and inflammatory cytokines production, organism-specific biosystemDHX36 and DHX9 are aspartate-glutamate-any amino acid aspartate/histidine (DExD/H) box helicase (DHX) proteins that localize in the cytosol. The DHX RNA helicases family includes a large number of pr...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • MyD88 cascade initiated on plasma membrane, organism-specific biosystem (from REACTOME)
    MyD88 cascade initiated on plasma membrane, organism-specific biosystemMammalian myeloid differentiation factor 88 (MyD88) is Toll/interleukin (IL)-1 (TIR)-domain containing adapter protein which plays crucial role in TLR signaling. All TLRs, with only one exception of...
  • MyD88 dependent cascade initiated on endosome, organism-specific biosystem (from REACTOME)
    MyD88 dependent cascade initiated on endosome, organism-specific biosystemUpon binding of their ligands, TLR7/8 and TLR9 recruit a cytoplasmic adaptor MyD88 and IRAKs, downstream of which the signaling pathways are divided to induce either inflammatory cytokines or type I ...
  • MyD88-independent TLR3/TLR4 cascade, organism-specific biosystem (from REACTOME)
    MyD88-independent TLR3/TLR4 cascade, organism-specific biosystemMyD88-independent signaling pathway is shared by TLR3 and TLR4 cascades. TIR-domain-containing adapter-inducing interferon-beta (TRIF or TICAM1) is a key adapter molecule in transducing signals from ...
  • MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystem (from REACTOME)
    MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystemThe first known downstream component of TLR4 and TLR2 signaling is the adaptor MyD88. Another adapter MyD88-adaptor-like (Mal; also known as TIR-domain-containing adaptor protein or TIRAP) has also b...
  • NRF2 pathway, organism-specific biosystem (from WikiPathways)
    NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
  • RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystem (from REACTOME)
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystemRIG-I-like helicases (RLHs) the retinoic acid inducible gene-I (RIG-I) and melanoma differentiation associated gene 5 (MDA5) are RNA helicases that recognize viral RNA present within the cytoplasm. F...
  • RIP-mediated NFkB activation via ZBP1, organism-specific biosystem (from REACTOME)
    RIP-mediated NFkB activation via ZBP1, organism-specific biosystemOverexpression of human or murine ZBP1 (DAI) in human embryonic kidney 293T cells (HEK293T) activated NF-kB-dependent promoter in a dose-dependent manner. Two RHIM-contaning kinases RIP1 and RIP3 are...
  • TAK1 activates NFkB by phosphorylation and activation of IKKs complex, organism-specific biosystem (from REACTOME)
    TAK1 activates NFkB by phosphorylation and activation of IKKs complex, organism-specific biosystemNF-kappaB is sequestered in the cytoplasm in a complex with inhibitor of NF-kappaB (IkB). Almost all NF-kappaB activation pathways are mediated by IkB kinase (IKK), which phosphorylates IkB resulting...
  • TRAF6 mediated NF-kB activation, organism-specific biosystem (from REACTOME)
    TRAF6 mediated NF-kB activation, organism-specific biosystemThe TRAF6/TAK1 signal activates a canonical IKK complex, resulting in the activation of NF-kB as well as MAPK cascades leading to the activation of AP-1. Although TRAF6/TAK1 has been implicated in To...
  • TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation, organism-specific biosystem (from REACTOME)
    TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation, organism-specific biosystemTRAF6 mediates NFkB activation via canonical phosphorylation of IKK complex by TAK1. TRAF6 and TAK1 also regulate MAPK cascades leading to the activation of AP-1.
  • TRIF-mediated TLR3/TLR4 signaling, organism-specific biosystem (from REACTOME)
    TRIF-mediated TLR3/TLR4 signaling, organism-specific biosystemTRIF(TICAM1) was shown to induce IRF3/7 and NF-?B activation and apoptosis through distinct intracellular signaling pathways [Han KJ et al 2004; Kaiser WJ and Offermann MK et al 2005]. TRIF consists...
  • Toll Like Receptor 10 (TLR10) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 10 (TLR10) Cascade, organism-specific biosystemLittle is known about TLR10 ligands. It has been established that the receptor homodimerizes upon binding and signals in an MyD88-dependent manner (Hasan U et al 2005; Nyman T et al 2008). It may als...
  • Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystemTLR2 is involved in recognition of peptidoglycan from gram-positive bacteria, bacterial lipoproteins, mycoplasma lipoprotein and mycobacterial products. It is quite possible that recognition of at le...
  • Toll Like Receptor 3 (TLR3) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 3 (TLR3) Cascade, organism-specific biosystemToll-like receptor 3 (TLR3) as was shown for mammals is expressed on myeloid dendritic cells, respiratory epithelium, macrophages, and appears to play a central role in mediating the antiviral and in...
  • Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystemToll-like Receptor 4 is a Microbe Associated Molecular Pattern receptor well known for it's sensitivity to Bacterial Lipopolysaccharides (LPS). LPS is assembled within diverse Gram-negative bacteria,...
  • Toll Like Receptor 5 (TLR5) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 5 (TLR5) Cascade, organism-specific biosystemTLR5 is the receptor for flagellin, the protein that forms bacterial flagella. Unlike most other Pathogen-Associated Molecular Patterns (PAMPs), flagellin does not undergo any posttranslational modif...
  • Toll Like Receptor 7/8 (TLR7/8) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 7/8 (TLR7/8) Cascade, organism-specific biosystemRNA can serve as a danger signal, both in its double-stranded form (that is associated with viral infection), as well as single-stranded RNA (ssRNA). Specifically, guanosine (G)- and uridine (U)-rich...
  • Toll Like Receptor 9 (TLR9) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 9 (TLR9) Cascade, organism-specific biosystemCpG DNA is an unusual Pathogen-Associated Molecular Pattern (PAMP). Cytosine methylation exists in mammalian but not bacterial cells, and most (but not all) CpG in the mammalian genome is methylated....
  • Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystemTLR1 is expressed by monocytes. TLR1 and TLR2 cotranslationally form heterodimeric complexes on the cell surface and in the cytosol. The TLR2:TLR1 complex recognizes Neisserial PorB and Mycobacterial...
  • Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystemTLR2 and TLR4 recognize different bacterial cell wall components. While TLR4 is trained onto Gram-negative lipopolysaccharide components, TLR2 - in combination with TLR6 - plays a major role in recog...
  • Toll-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
    Toll-Like Receptors Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...
  • ZBP1(DAI) mediated induction of type I IFNs, organism-specific biosystem (from REACTOME)
    ZBP1(DAI) mediated induction of type I IFNs, organism-specific biosystemZ-DNA-binding protein-1 (ZBP1), also known as, DNA-dependent activator of IFN-regulatory factors (DAI) was reported to initiate innate immune responses in murine L929 cells upon stimulation by multip...
  • amb2 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
    amb2 Integrin signaling, organism-specific biosystem
    amb2 Integrin signaling
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC22357

Gene Ontology Provided by GOA

Function Evidence Code Pubs
S100 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
advanced glycation end-product binding IEA
Inferred from Electronic Annotation
more info
 
advanced glycation end-product receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
amyloid-beta binding NAS
Non-traceable Author Statement
more info
PubMed 
amyloid-beta binding TAS
Traceable Author Statement
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
scavenger receptor activity TAS
Traceable Author Statement
more info
PubMed 
signaling receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
astrocyte development IEA
Inferred from Electronic Annotation
more info
 
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
cellular response to amyloid-beta ISS
Inferred from Sequence or Structural Similarity
more info
 
glucose mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
induction of positive chemotaxis IEA
Inferred from Electronic Annotation
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
learning or memory IGI
Inferred from Genetic Interaction
more info
PubMed 
modulation of age-related behavioral decline IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of advanced glycation end-product receptor activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of connective tissue replacement involved in inflammatory response wound healing IEA
Inferred from Electronic Annotation
more info
 
negative regulation of interleukin-10 production IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of long term synaptic depression IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of long-term synaptic potentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection development IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of JNK cascade IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of JUN kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of NIK/NF-kappaB signaling IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of activated T cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of astrocyte activation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of dendritic cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-12 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of microglial cell activation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of monocyte chemotactic protein-1 production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of p38MAPK cascade IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of protein phosphorylation IGI
Inferred from Genetic Interaction
more info
PubMed 
protein localization to membrane IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
 
regulation of CD4-positive, alpha-beta T cell activation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
regulation of NIK/NF-kappaB signaling NAS
Non-traceable Author Statement
more info
PubMed 
regulation of T cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of p38MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of spontaneous synaptic transmission IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of synaptic plasticity TAS
Traceable Author Statement
more info
PubMed 
response to amyloid-beta ISS
Inferred from Sequence or Structural Similarity
more info
 
response to amyloid-beta TAS
Traceable Author Statement
more info
PubMed 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to wounding TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
cell surface NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
fibrillar center IDA
Inferred from Direct Assay
more info
 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynapse TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
advanced glycosylation end product-specific receptor
Names
RAGE isoform NtRAGE-delta
RAGE isoform sRAGE-delta
receptor for advanced glycation end-products variant 20

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.

Genomic

  1. NG_029868.1 RefSeqGene

    Range
    5001..8355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136.4NP_001127.1  advanced glycosylation end product-specific receptor isoform 1 precursor

    See identical proteins and their annotated locations for NP_001127.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as RAGE) represents the predominant transcript, and encodes isoform 1.
    Source sequence(s)
    AK298100, BM971899
    Consensus CDS
    CCDS4746.1
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    A0A1U9X785, B4DNX3
    Related
    ENSP00000364217.4, OTTHUMP00000029155, ENST00000375076.8, OTTHUMT00000076200
    Conserved Domains (3) summary
    smart00410
    Location:24117
    IG_like; Immunoglobulin like
    pfam08205
    Location:124219
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13927
    Location:239304
    Ig_3; Immunoglobulin domain
  2. NM_001206929.1NP_001193858.1  advanced glycosylation end product-specific receptor isoform 2 precursor

    See identical proteins and their annotated locations for NP_001193858.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as RAGE_v5) uses an alternate in-frame donor splice site at an internal coding exon compared to variant 1. This results in a longer isoform (2) containing an additional protein segment compared to isoform 1.
    Source sequence(s)
    AK298100, AY755621, BM971899
    Consensus CDS
    CCDS75429.1
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Related
    ENSP00000364210.4, ENST00000375069.7
    Conserved Domains (4) summary
    cd00096
    Location:34111
    Ig; Immunoglobulin domain
    smart00408
    Location:267322
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:260331
    IG_like; Immunoglobulin like
    pfam08205
    Location:124235
    C2-set_2; CD80-like C2-set immunoglobulin domain
  3. NM_001206932.1NP_001193861.1  advanced glycosylation end product-specific receptor isoform 3 precursor

    See identical proteins and their annotated locations for NP_001193861.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as RAGE_v4) uses alternate in-frame acceptor and donor splice sites at two internal coding exons compared to variant 1. This results in a shorter isoform (2) missing two internal protein segments compared to isoform 1.
    Source sequence(s)
    AK298100, AY755624, BM971899
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Conserved Domains (4) summary
    smart00408
    Location:237292
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:230301
    IG_like; Immunoglobulin like
    pfam08205
    Location:110205
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13895
    Location:23103
    Ig_2; Immunoglobulin domain
  4. NM_001206934.1NP_001193863.1  advanced glycosylation end product-specific receptor isoform 4 precursor

    See identical proteins and their annotated locations for NP_001193863.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as RAGE_v6) lacks the penultimate coding exon, and uses alternate donor splice sites at two internal coding exons compared to variant 1. This results in a frame-shift and a shorter isoform (4) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK298100, AY755622, BM971899
    Consensus CDS
    CCDS56417.1
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Related
    ENSP00000387887.2, ENST00000438221.6
    Conserved Domains (4) summary
    cd00096
    Location:34111
    Ig; Immunoglobulin domain
    smart00408
    Location:267322
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:260331
    IG_like; Immunoglobulin like
    pfam08205
    Location:124235
    C2-set_2; CD80-like C2-set immunoglobulin domain
  5. NM_001206936.1NP_001193865.1  advanced glycosylation end product-specific receptor isoform 5 precursor

    See identical proteins and their annotated locations for NP_001193865.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as RAGE_v9) lacks the penultimate coding exon, and uses alternate acceptor and donor splice sites at two internal coding exons compared to variant 1. This results in a frame-shift and a shorter isoform (5) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK298100, AY755623, BM971899
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Conserved Domains (4) summary
    cd00096
    Location:34111
    Ig; Immunoglobulin domain
    smart00408
    Location:251275
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:24117
    IG_like; Immunoglobulin like
    pfam08205
    Location:124219
    C2-set_2; CD80-like C2-set immunoglobulin domain
  6. NM_001206940.1NP_001193869.1  advanced glycosylation end product-specific receptor isoform 6 precursor

    See identical proteins and their annotated locations for NP_001193869.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6, also known as RAGE_v1) lacks the penultimate coding exon, and uses an alternate donor splice site at another coding exon compared to variant 1. This results in a frame-shift and a shorter isoform (6, also known as esRAGE and soluble RAGE) with a distinct C-terminus compared to isoform 1. This isoform lacks the transmembrane and intracellular domains, is secreted (PMID:18089847), and thought to function as a decoy receptor that inhibits RAGE signaling, and thus prevent the pathological progression of some pathologic conditions, such as Alzheimer's disease (PMID:18431028). Variants 6 and 9 encode the same isoform.
    Source sequence(s)
    AK298100, AY755620, BM971899
    Consensus CDS
    CCDS56418.1
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Related
    ENSP00000364195.2, OTTHUMP00000174885, ENST00000375055.6, OTTHUMT00000268937
    Conserved Domains (4) summary
    cd00096
    Location:34111
    Ig; Immunoglobulin domain
    smart00408
    Location:251306
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:244315
    IG_like; Immunoglobulin like
    pfam08205
    Location:124219
    C2-set_2; CD80-like C2-set immunoglobulin domain
  7. NM_001206954.1NP_001193883.1  advanced glycosylation end product-specific receptor isoform 8 precursor

    See identical proteins and their annotated locations for NP_001193883.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8, also known as RAGE_v8) lacks two internal coding exons, and uses an alternate donor splice site at another coding exon compared to variant 1. This results in a frame-shift, and a shorter isoform (8) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK298100, BM971899, EU117141
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Conserved Domains (4) summary
    cd00096
    Location:34111
    Ig; Immunoglobulin domain
    smart00408
    Location:251276
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:24117
    IG_like; Immunoglobulin like
    pfam08205
    Location:124219
    C2-set_2; CD80-like C2-set immunoglobulin domain
  8. NM_001206966.1NP_001193895.1  advanced glycosylation end product-specific receptor isoform 6 precursor

    See identical proteins and their annotated locations for NP_001193895.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9, also known as RAGE_v10) lacks the penultimate coding exon, and uses alternate splice sites at other exons at the 3' end compared to variant 1. This results in a frame-shift and a shorter isoform (6, also known as esRAGE and soluble RAGE) with a distinct C-terminus compared to isoform 1. Variants 6 and 9 encode the same isoform.
    Source sequence(s)
    AK298100, AY755628, BM971899
    Consensus CDS
    CCDS56418.1
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Conserved Domains (4) summary
    cd00096
    Location:34111
    Ig; Immunoglobulin domain
    smart00408
    Location:251306
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:244315
    IG_like; Immunoglobulin like
    pfam08205
    Location:124219
    C2-set_2; CD80-like C2-set immunoglobulin domain
  9. NM_172197.2NP_751947.1  advanced glycosylation end product-specific receptor isoform 7 precursor

    See identical proteins and their annotated locations for NP_751947.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7, also known as RAGE_v16) uses alternate splice sites at several internal coding exons compared to variant 1. This results in a frame-shift and a shorter isoform (7, also known as hRAGEsec) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AJ133822, AK298100, BM971899
    Consensus CDS
    CCDS4747.1
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Related
    ENSP00000364208.3, OTTHUMP00000029156, ENST00000375067.7, OTTHUMT00000076201
    Conserved Domains (4) summary
    smart00410
    Location:24103
    IG_like; Immunoglobulin like
    pfam08205
    Location:110205
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13895
    Location:23103
    Ig_2; Immunoglobulin domain
    cl11960
    Location:237260
    Ig; Immunoglobulin domain

RNA

  1. NR_038190.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10, also known as RAGE_v2) is alternatively spliced at the 5' end compared to variant 1. It is represented as non-coding because the use of the 5'-most translation start codon (with a strong Kozak signal), renders this transcript a candidate for nonsense-mediated mRNA decay (NMD). Transfection studies also could not detect expression of any protein from this variant (PMID:18089847).
    Source sequence(s)
    AK298100, BM971899, DQ104254
    Related
    ENST00000484849.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    32180968..32184380 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010328.2XP_016865817.1  advanced glycosylation end product-specific receptor isoform X1

    Conserved Domains (4) summary
    smart00408
    Location:298323
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:55148
    IG_like; Immunoglobulin like
    pfam08205
    Location:155266
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13895
    Location:54148
    Ig_2; Immunoglobulin domain

RNA

  1. XR_001743190.2 RNA Sequence

  2. XR_001743189.2 RNA Sequence

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    3513570..3516924 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p12 ALT_REF_LOCI_2

    Range
    3619320..3622674 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p12 ALT_REF_LOCI_4

    Range
    3485949..3489303 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p12 ALT_REF_LOCI_5

    Range
    3522987..3526341 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p12 ALT_REF_LOCI_6

    Range
    3404169..3407523 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p12 ALT_REF_LOCI_7

    Range
    3497175..3500529 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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