Format

Send to:

Choose Destination

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

Gene ID: 177, updated on 19-Jul-2021

Summary

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
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; sRAGE; 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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See AGER in Genome Data Viewer
Location:
6p21.32
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32180969..32184380, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32148746..32152030, 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 receptor 4

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

Associated conditions

Description Tests
Genome-wide association study identifies five loci associated with lung function.
GeneReviews: Not available
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
GeneReviews: Not available
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22357

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables S100 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables advanced glycation end-product receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
enables amyloid-beta binding IDA
Inferred from Direct Assay
more info
PubMed 
enables amyloid-beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables amyloid-beta binding NAS
Non-traceable Author Statement
more info
PubMed 
enables amyloid-beta binding TAS
Traceable Author Statement
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables scavenger receptor activity TAS
Traceable Author Statement
more info
PubMed 
enables signaling receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in astrocyte activation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in cellular response to amyloid-beta ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in induction of positive chemotaxis IEA
Inferred from Electronic Annotation
more info
 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in learning or memory IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in microglial cell activation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in microglial cell activation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in modulation of age-related behavioral decline IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of blood circulation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in negative regulation of interleukin-10 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of long-term synaptic depression IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of long-term synaptic potentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron projection development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of JNK cascade IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of JUN kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of NF-kappaB transcription factor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of NIK/NF-kappaB signaling IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of activated T cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of chemokine production ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of dendritic cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of endothelin production ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of heterotypic cell-cell adhesion IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of interleukin-1 beta production ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of interleukin-12 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of interleukin-6 production ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of monocyte chemotactic protein-1 production IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of monocyte extravasation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of p38MAPK cascade IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of protein phosphorylation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of tumor necrosis factor production ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in protein localization to membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of CD4-positive, alpha-beta T cell activation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of NIK/NF-kappaB signaling NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of T cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of p38MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of spontaneous synaptic transmission IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of synaptic plasticity TAS
Traceable Author Statement
more info
PubMed 
involved_in response to amyloid-beta ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to amyloid-beta TAS
Traceable Author Statement
more info
PubMed 
involved_in response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in response to wounding TAS
Traceable Author Statement
more info
PubMed 
involved_in transcytosis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in transport across blood-brain barrier IDA
Inferred from Direct Assay
more info
PubMed 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in cell surface NAS
Non-traceable Author Statement
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in fibrillar center IDA
Inferred from Direct Assay
more info
 
located_in integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynapse TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
advanced glycosylation end product-specific receptor
Names
receptor for advanced glycation end-products variant 20

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.

Genomic

  1. NG_029868.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001136.5NP_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)
    AL662884
    Consensus CDS
    CCDS4746.1
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    A0A1U9X785, B4DNX3
    Related
    ENSP00000364217.4, ENST00000375076.9
    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:241304
    Ig_3; Immunoglobulin domain
  2. NM_001206929.2NP_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)
    AL662884
    Consensus CDS
    CCDS75429.1
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Related
    ENSP00000364210.4, ENST00000375069.7
    Conserved Domains (3) summary
    smart00410
    Location:24117
    IG_like; Immunoglobulin like
    pfam08205
    Location:124235
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13927
    Location:257320
    Ig_3; Immunoglobulin domain
  3. NM_001206932.2NP_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)
    AL662884
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Conserved Domains (3) summary
    smart00410
    Location:24103
    IG_like; Immunoglobulin like
    pfam08205
    Location:110205
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13927
    Location:227290
    Ig_3; Immunoglobulin domain
  4. NM_001206934.2NP_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)
    AL662884
    Consensus CDS
    CCDS56417.1
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Related
    ENSP00000387887.2, ENST00000438221.6
    Conserved Domains (3) summary
    smart00410
    Location:24117
    IG_like; Immunoglobulin like
    pfam08205
    Location:124235
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13927
    Location:257320
    Ig_3; Immunoglobulin domain
  5. NM_001206936.2NP_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)
    AL662884
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Conserved Domains (2) summary
    smart00410
    Location:24117
    IG_like; Immunoglobulin like
    pfam08205
    Location:124219
    C2-set_2; CD80-like C2-set immunoglobulin domain
  6. NM_001206940.2NP_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)
    AL662884
    Consensus CDS
    CCDS56418.1
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Related
    ENSP00000364195.2, ENST00000375055.6
    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:241304
    Ig_3; Immunoglobulin domain
  7. NM_001206954.2NP_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)
    AL662884
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Conserved Domains (2) summary
    smart00410
    Location:24117
    IG_like; Immunoglobulin like
    pfam08205
    Location:124219
    C2-set_2; CD80-like C2-set immunoglobulin domain
  8. NM_001206966.2NP_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)
    AL662884
    Consensus CDS
    CCDS56418.1
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    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:241304
    Ig_3; Immunoglobulin domain
  9. NM_172197.3NP_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)
    AL662884
    Consensus CDS
    CCDS4747.1
    UniProtKB/Swiss-Prot
    Q15109
    UniProtKB/TrEMBL
    B4DNX3
    Related
    ENSP00000364208.3, ENST00000375067.7
    Conserved Domains (2) summary
    smart00410
    Location:24103
    IG_like; Immunoglobulin like
    pfam08205
    Location:110205
    C2-set_2; CD80-like C2-set immunoglobulin domain

RNA

  1. NR_038190.2 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)
    AL662884
    Related
    ENST00000484849.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    32180969..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
    smart00409
    Location:55148
    IG; Immunoglobulin
    pfam08205
    Location:155266
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13927
    Location:286340
    Ig_3; Immunoglobulin domain
    cd00096
    Location:200205
    Ig; Ig strand C [structural motif]

RNA

  1. XR_001743190.2 RNA Sequence

    Related
    ENST00000375070.7
  2. XR_001743189.2 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    3513571..3516855 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3619321..3622605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    3485950..3489234 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    3522988..3526272 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    3404170..3407454 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    3497176..3500460 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center