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

Gene ID: 100141515, updated on 27-Nov-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, Nov 2024]
Expression
Biased expression in bone marrow (RPKM 1.9) and lymph node (RPKM 0.1) See more
Orthologs
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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

  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

  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

  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

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