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    IL17RD interleukin 17 receptor D [ Homo sapiens (human) ]

    Gene ID: 54756, updated on 2-Nov-2024

    Summary

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    Official Symbol
    IL17RDprovided by HGNC
    Official Full Name
    interleukin 17 receptor Dprovided by HGNC
    Primary source
    HGNC:HGNC:17616
    See related
    Ensembl:ENSG00000144730 MIM:606807; AllianceGenome:HGNC:17616
    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
    SEF; HH18; IL-17RD; IL17RLM
    Summary
    This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin. The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
    Expression
    Broad expression in endometrium (RPKM 8.3), testis (RPKM 6.2) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IL17RD in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (57089982..57170317, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (57130265..57210589, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57124010..57204345, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 3 Neighboring gene ARHGEF3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57040522-57041053 Neighboring gene Sharpr-MPRA regulatory region 6639 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:57049075-57049840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:57086410-57086910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:57086911-57087411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57097817-57098598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14477 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:57131244-57132443 Neighboring gene spermatogenesis associated 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57144939-57145652 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:57162623-57163448 and GRCh37_chr3:57163449-57164275 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57165102-57165928 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57164276-57165101 Neighboring gene uncharacterized LOC105377101 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57192947-57193632 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57193633-57194316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14479 Neighboring gene ribosomal protein L19 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:57218732-57218927 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:57233699-57234296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19986 Neighboring gene HESX homeobox 1 Neighboring gene uncharacterized LOC105377102 Neighboring gene adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 Neighboring gene ankyrin repeat and SOCS box containing 14

    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 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. Alternative splicing generates an isoform of the human Sef gene with altered subcellular localization and specificity. Preger E, et al. Proc Natl Acad Sci U S A, 2004 Feb 3. PMID 14742870, Free PMC Article
    2. Sef is an inhibitor of proinflammatory cytokine signaling, acting by cytoplasmic sequestration of NF-κB. Fuchs Y, et al. Dev Cell, 2012 Sep 11. PMID 22975329
    3. Similar expression to FGF (Sef) reduces endometrial adenocarcinoma cells proliferation via inhibiting fibroblast growth factor 2-mediated MAPK/ERK signaling pathway. Zhang H, et al. Gynecol Oncol, 2011 Sep. PMID 21663947
    4. IL-17RD (Sef or IL-17RLM) interacts with IL-17 receptor and mediates IL-17 signaling. Rong Z, et al. Cell Res, 2009 Feb. PMID 19079364, Free PMC Article
    5. Sef Regulates Epithelial-Mesenchymal Transition in Breast Cancer Cells. He Q, et al. J Cell Biochem, 2016 Oct. PMID 26950413, Free PMC Article

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism.
      Title: Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism.
    2. Elevation of circ-PITX1 upregulates interleukin 17 receptor D expression via sponging miR-518a-5p and facilitates cell progression in glioma.
      Title: Elevation of circ-PITX1 upregulates interleukin 17 receptor D expression via sponging miR-518a-5p and facilitates cell progression in glioma.
    3. This study provides new insights into structure-function relation of Sef protein and the molecular mechanism by which Sef serves to limit classical NF-kappaB transcriptional activity.
      Title: The tumor suppressor Sef is a scaffold for the classical NF-κB/RELA:P50 signaling module.
    4. IL-17RD is a functional receptor for IL-17A in vitro and in vivo and mediates the proinflammatory gene expression downstream of IL-17A..
      Title: Interleukin-17 receptor D constitutes an alternative receptor for interleukin-17A important in psoriasis-like skin inflammation.
    5. MAPK signaling dependency in epithelial lung cancer cells is due to the scaffold protein interleukin-17 receptor D (IL17RD), which is directly repressed by ZEB1.
      Title: ZEB1 suppression sensitizes KRAS mutant cancers to MEK inhibition by an IL17RD-dependent mechanism.
    6. miR-193a-3p is downregulated in ulcerative colitis neoplasia, and its loss promotes carcinogenesis through upregulation of IL17RD. These findings provide novel insight into inflammation-driven colorectal cancer and could suggest new therapeutic targets in this high-risk population
      Title: miR-193a-3p is a Key Tumor Suppressor in Ulcerative Colitis-Associated Colon Cancer and Promotes Carcinogenesis through Upregulation of IL17RD.
    7. Low SEF expression is associated with Epithelial-Mesenchymal Transition in Breast Cancer and thus Metastasis in breast Cancer.
      Title: Sef Regulates Epithelial-Mesenchymal Transition in Breast Cancer Cells.
    8. Taken together, these data suggest evidence that loss of hSef may be a critical event facilitating tumor dissemination of prostate cancer through alteration of EMT.
      Title: Loss of hSef promotes metastasis through upregulation of EMT in prostate cancer.
    9. IL17RD negatively regulates Toll-like receptor (TLR)-induced responses.
      Title: Orphan receptor IL-17RD regulates Toll-like receptor signalling via SEFIR/TIR interactions.
    10. Demonstrate SEF expression in a healthy ovary during folliculogenesis and suggest hormonal regulation of its expression may be an important factor involved in intra-ovarian control mechanisms.
      Title: Expression and regulation of the tumor suppressor, SEF, during folliculogenesis in humans and mice.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35755, MGC133309, DKFZp434N1928

    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
    		  
    involved_in negative regulation of epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    interleukin-17 receptor D
    Names
    IL-17 receptor D
    IL17Rhom
    interleukin-17 receptor-like protein
    sef homolog
    similar expression to fgf genes

    NCBI Reference Sequences (RefSeq)

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    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_047158.1 RefSeqGene

      Range
      9965..85336
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318864.2 → NP_001305793.1  interleukin-17 receptor D isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start site, compared to variant 2. It encodes a shorter isoform (b) which has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC097358, AF494211, BQ017683, HY005493
      Consensus CDS
      CCDS82790.1
      UniProtKB/TrEMBL
      B4DXM5
      Related
      ENSP00000322250.5, ENST00000320057.9
      Conserved Domains (2) summary
      pfam08357
      Location:212 → 367
      SEFIR; SEFIR domain
      pfam16742
      Location:1 → 25
      IL17R_D_N; N-terminus of interleukin 17 receptor D

    2. NM_017563.5 → NP_060033.3  interleukin-17 receptor D isoform a precursor

      See identical proteins and their annotated locations for NP_060033.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the shorter transcript and encodes the longer isoform a (also known as hSef-a).
      Source sequence(s)
      AC097358, AF458067, AK302045, BQ017683, HY024286
      Consensus CDS
      CCDS2880.2
      UniProtKB/Swiss-Prot
      Q2NKP7, Q58EZ7, Q6RVF4, Q6UWI5, Q8N113, Q8NFM7, Q8NFS0, Q9UFA0
      Related
      ENSP00000296318.7, ENST00000296318.12
      Conserved Domains (2) summary
      pfam08357
      Location:356 → 511
      SEFIR; SEFIR domain
      pfam16742
      Location:48 → 169
      IL17R_D_N; N-terminus of interleukin 17 receptor D

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      57089982..57170317 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448369.1 → XP_047304325.1  interleukin-17 receptor D isoform X1

    2. XM_005265238.5 → XP_005265295.1  interleukin-17 receptor D isoform X2

      Conserved Domains (2) summary
      pfam08357
      Location:328 → 483
      SEFIR; SEFIR domain
      pfam16742
      Location:20 → 141
      IL17R_D_N; N-terminus of interleukin 17 receptor D

    3. XM_011533849.2 → XP_011532151.2  interleukin-17 receptor D isoform X1

      UniProtKB/TrEMBL
      B4DXM5
      Related
      ENSP00000417516.1, ENST00000463523.5
      Conserved Domains (2) summary
      pfam08357
      Location:212 → 367
      SEFIR; SEFIR domain
      pfam16742
      Location:1 → 25
      IL17R_D_N; N-terminus of interleukin 17 receptor D

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      57130265..57210589 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346953.1 → XP_054202928.1  interleukin-17 receptor D isoform X2

    2. XM_054346954.1 → XP_054202929.1  interleukin-17 receptor D isoform X1

    3. XM_054346952.1 → XP_054202927.1  interleukin-17 receptor D isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFM7.3 GenPept UniProtKB/Swiss-Prot:Q8NFM7

    Gene LinkOut

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

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