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    IL17REL interleukin 17 receptor E like [ Homo sapiens (human) ]

    Gene ID: 400935, updated on 27-Nov-2024

    Summary

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    Official Symbol
    IL17RELprovided by HGNC
    Official Full Name
    interleukin 17 receptor E likeprovided by HGNC
    Primary source
    HGNC:HGNC:33808
    See related
    Ensembl:ENSG00000188263 MIM:613414; AllianceGenome:HGNC:33808
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable interleukin-17 receptor activity. Predicted to be involved in cytokine-mediated signaling pathway. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See IL17REL in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (49991811..50012765, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (50496494..50517673, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50430240..50451194, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50316438-50317008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50317009-50317578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19288 Neighboring gene cysteine rich with EGF like domains 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13931 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13932 Neighboring gene Sharpr-MPRA regulatory region 8073 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50336353-50337079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50337080-50337805 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50340469-50341056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50343989-50344576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50344577-50345162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50346923-50347508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13939 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13941 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50358856-50359356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13943 Neighboring gene microRNA 6821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19295 Neighboring gene Pim-3 proto-oncogene, serine/threonine kinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50421116-50422037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50437830-50438788 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50438789-50439748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50439749-50440706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50451079-50451679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13948 Neighboring gene tubulin tyrosine ligase like 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50510246-50511128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50511129-50512010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50512330-50512836 Neighboring gene modulator of VRAC current 1 Neighboring gene Sharpr-MPRA regulatory region 9327 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:50523503-50524127

    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. Whole-exome Sequence Analysis Implicates Rare Il17REL Variants in Familial and Sporadic Inflammatory Bowel Disease. Sasaki MM, et al. Inflamm Bowel Dis, 2016 Jan. PMID 26480299, Free PMC Article
    2. Copy number variants of ABCF1, IL17REL, and FCGR3A are associated with the risk of gout. Dong Z, et al. Protein Cell, 2017 Jun. PMID 28405828, Free PMC Article
    3. Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). Franke A, et al. Nat Genet, 2010 Apr. PMID 20228798
    4. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Anderson CA, et al. Nat Genet, 2011 Mar. PMID 21297633, Free PMC Article
    5. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The high copy number variant in the ABCF1 gene was the strongest risk factor for gout (OR = 5.70), while a low copy number variant in the IL17REL gene was the strongest protective factor against gout (OR = 0.15)
      Title: Copy number variants of ABCF1, IL17REL, and FCGR3A are associated with the risk of gout.
    2. Rare Il17REL Variants are associated with Familial and Sporadic Inflammatory Bowel Disease.
      Title: Whole-exome Sequence Analysis Implicates Rare Il17REL Variants in Familial and Sporadic Inflammatory Bowel Disease.
    3. We performed a genome-wide association analysis of ulcerative colitis and discovered new associations in il17rel
      Title: Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).
    Submit: New GeneRIF Correction

    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
    Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    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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    Homology

    Clone Names

    • FLJ41993

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables interleukin-17 receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cytokine-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    interleukin-17 receptor E-like protein
    Names
    IL-17 receptor E-like
    IL-17RE-like
    putative interleukin-17 receptor E-like

    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_001001694.3 → NP_001001694.2  interleukin-17 receptor E-like protein isoform 1

      See identical proteins and their annotated locations for NP_001001694.2

      Status: VALIDATED

      Source sequence(s)
      AK123987, AL022327
      Conserved Domains (1) summary
      pfam15037
      Location:54 → 294
      IL17_R_N; Interleukin-17 receptor extracellular region

    2. NM_001371416.1 → NP_001358345.1  interleukin-17 receptor E-like protein isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL022327
      Consensus CDS
      CCDS93181.1
      UniProtKB/TrEMBL
      A0A8Q3WLX3
      Related
      ENSP00000512283.1, ENST00000695951.1
      Conserved Domains (1) summary
      pfam15037
      Location:111 → 366
      IL17_R_N; Interleukin-17 receptor extracellular region

    3. NM_001371417.1 → NP_001358346.1  interleukin-17 receptor E-like protein isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL022327
      Consensus CDS
      CCDS93182.1
      UniProtKB/Swiss-Prot
      A0A8Q3WKV1, A6NCN4, A6PVC1, Q6ZVW7
      Related
      ENSP00000512282.1, ENST00000695950.1
      Conserved Domains (1) summary
      pfam15037
      Location:111 → 461
      IL17_R_N; Interleukin-17 receptor extracellular region

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      49991811..50012765 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001755245.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      50496494..50517673 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008485396.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZVW7.3 GenPept UniProtKB/Swiss-Prot:Q6ZVW7

    Gene LinkOut

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

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