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    C17orf99 chromosome 17 open reading frame 99 [ Homo sapiens (human) ]

    Gene ID: 100141515, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C17orf99provided by HGNC
    Official Full Name
    chromosome 17 open reading frame 99provided by HGNC
    Primary source
    HGNC:HGNC:34490
    See related
    Ensembl:ENSG00000187997 AllianceGenome:HGNC:34490
    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
    Also known as
    IL-40; UNQ464
    Summary
    Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway; mature B cell differentiation involved in immune response; and positive regulation of immunoglobulin production in mucosal tissue. Located in extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in bone marrow (RPKM 1.9) and lymph node (RPKM 0.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See C17orf99 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78145571..78166297)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79039349..79060396)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76142466..76162378)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene trinucleotide repeat containing adaptor 6C Neighboring gene RNA, U6 small nuclear 625, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12854 Neighboring gene CEB72 minisatellite repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9043 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9044 Neighboring gene transmembrane channel like 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76129823-76130348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76130349-76130874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76133293-76133934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76135219-76135858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9045 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:76137495-76138694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76144923-76145422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76147835-76148412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76148413-76148989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12868 Neighboring gene transmembrane channel like 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76154005-76154506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76160142-76160642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12872 Neighboring gene eukaryotic translation initiation factor 5A pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76171843-76172621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76172622-76173399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76180346-76181247 Neighboring gene synaptogyrin 2 Neighboring gene thymidine kinase 1

    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. IL-40 is up-regulated in the synovial fluid and cartilage of osteoarthritis patients and contributes to the alteration of chondrocytes phenotype in vitro. Cerezo LA, et al. Arthritis Res Ther, 2024 Jul 30. PMID 39080724, Free PMC Article
    2. Molecular landscape of the interleukin-40 encoding gene, C17orf99, in patients with acute myeloid leukemia. Bashi MA, et al. Gene, 2024 Apr 30. PMID 38286266
    3. A novel intergenic variant, rs2004339 A/G, of the gene encoding interleukin-40, C17orf99, is associated with risk of rheumatoid arthritis in Iraqi women. Bani-Wais DFN, et al. Mol Immunol, 2023 Dec. PMID 37951185
    4. Identification of IL-40, a Novel B Cell-Associated Cytokine. Catalan-Dibene J, et al. J Immunol, 2017 Nov 1. PMID 28978694, Free PMC Article
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. Zhang Z, et al. Protein Sci, 2004 Oct. PMID 15340161, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IL-40 is up-regulated in the synovial fluid and cartilage of osteoarthritis patients and contributes to the alteration of chondrocytes phenotype in vitro.
      Title: IL-40 is up-regulated in the synovial fluid and cartilage of osteoarthritis patients and contributes to the alteration of chondrocytes phenotype in vitro.
    2. Molecular landscape of the interleukin-40 encoding gene, C17orf99, in patients with acute myeloid leukemia.
      Title: Molecular landscape of the interleukin-40 encoding gene, C17orf99, in patients with acute myeloid leukemia.
    3. A novel intergenic variant, rs2004339 A/G, of the gene encoding interleukin-40, C17orf99, is associated with risk of rheumatoid arthritis in Iraqi women.
      Title: A novel intergenic variant, rs2004339 A/G, of the gene encoding interleukin-40, C17orf99, is associated with risk of rheumatoid arthritis in Iraqi women.
    4. these observations indicate that C17orf99 encodes a novel B cell-associated cytokine, which we have called IL-40, that plays an important role in humoral immune responses and may also play a role in B cell development.
      Title: Identification of IL-40, a Novel B Cell-Associated Cytokine.
    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

    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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    Markers

    Homology

    Clone Names

    • FLJ50084

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mature B cell differentiation involved in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of immunoglobulin production in mucosal tissue ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein IL-40
    Names
    GLPG464
    interleukin-40
    uncharacterized protein C17orf99

    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_001163075.2 → NP_001156547.1  protein IL-40 precursor

      See identical proteins and their annotated locations for NP_001156547.1

      Status: VALIDATED

      Source sequence(s)
      AC021593, AY358510
      Consensus CDS
      CCDS54171.1
      UniProtKB/Swiss-Prot
      Q6UX52
      Related
      ENSP00000343493.4, ENST00000340363.10

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      78145571..78166297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023997.2 → XP_016879486.2  protein IL-40 isoform X1

      UniProtKB/TrEMBL
      B4DZX2

    2. XM_047435061.1 → XP_047291017.1  protein IL-40 isoform X7

    3. XM_047435058.1 → XP_047291014.1  protein IL-40 isoform X4

    4. XM_011524152.3 → XP_011522454.2  protein IL-40 isoform X3

    5. XM_047435060.1 → XP_047291016.1  protein IL-40 isoform X6

    6. XM_017023999.2 → XP_016879488.1  protein IL-40 isoform X8

      Conserved Domains (1) summary
      pfam17736
      Location:25 → 114
      Ig_C17orf99; C17orf99 Ig domain

    7. XM_017023998.2 → XP_016879487.1  protein IL-40 isoform X2

      UniProtKB/TrEMBL
      B4DZX2
      Conserved Domains (1) summary
      pfam17736
      Location:27 → 121
      Ig_C17orf99; C17orf99 Ig domain

    8. XM_017024000.2 → XP_016879489.1  protein IL-40 isoform X9

      Conserved Domains (1) summary
      pfam17736
      Location:9 → 98
      Ig_C17orf99; C17orf99 Ig domain

    9. XM_017024001.2 → XP_016879490.1  protein IL-40 isoform X9

      Conserved Domains (1) summary
      pfam17736
      Location:9 → 98
      Ig_C17orf99; C17orf99 Ig domain

    10. XM_047435059.1 → XP_047291015.1  protein IL-40 isoform X5

    11. XM_047435062.1 → XP_047291018.1  protein IL-40 isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      79039349..79060396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314624.1 → XP_054170599.1  protein IL-40 isoform X1

      UniProtKB/TrEMBL
      B4DZX2

    2. XM_054314630.1 → XP_054170605.1  protein IL-40 isoform X7

    3. XM_054314627.1 → XP_054170602.1  protein IL-40 isoform X4

    4. XM_054314626.1 → XP_054170601.1  protein IL-40 isoform X3

    5. XM_054314629.1 → XP_054170604.1  protein IL-40 isoform X6

    6. XM_054314631.1 → XP_054170606.1  protein IL-40 isoform X8

    7. XM_054314625.1 → XP_054170600.1  protein IL-40 isoform X2

      UniProtKB/TrEMBL
      B4DZX2

    8. XM_054314632.1 → XP_054170607.1  protein IL-40 isoform X9

    9. XM_054314633.1 → XP_054170608.1  protein IL-40 isoform X9

    10. XM_054314628.1 → XP_054170603.1  protein IL-40 isoform X5

    11. XM_054314634.1 → XP_054170609.1  protein IL-40 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UX52.2 GenPept UniProtKB/Swiss-Prot:Q6UX52

    Gene LinkOut

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