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Aliases for C17orf99 Gene

Aliases for C17orf99 Gene

  • Chromosome 17 Open Reading Frame 99 2 3 5
  • IL-40 3 4
  • Uncharacterized Protein C17orf99 3
  • Interleukin-40 4
  • GLPG464 3
  • UNQ464 3
  • IL40 4

External Ids for C17orf99 Gene

Previous GeneCards Identifiers for C17orf99 Gene

  • GC17U901110
  • GC17P073655
  • GC17P076142
  • GC17P071566

Summaries for C17orf99 Gene

GeneCards Summary for C17orf99 Gene

C17orf99 (Chromosome 17 Open Reading Frame 99) is a Protein Coding gene.

UniProtKB/Swiss-Prot for C17orf99 Gene

  • Probable B cell-associated cytokine that plays a role in the regulation of humoral immune responses. Involved in lymphocyte B cell development and immunoglobulin/IgA production.

Additional gene information for C17orf99 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C17orf99 Gene

Genomics for C17orf99 Gene

GeneHancer (GH) Regulatory Elements for C17orf99 Gene

Promoters and enhancers for C17orf99 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J078143 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.2 160 5.8 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B DMAP1 SP5 MXD4 C17orf99 TMC8 TMC6 EIF5AP2
GH17J078170 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +28.0 28019 6.1 HDGF SIN3A IRF4 YY1 GLIS2 E2F8 ZNF143 KLF7 RUNX3 PAF1 AFMID C17orf99 TNRC6C-AS1 SYNGR2 TK1 TMC6 PGS1 SOCS3 GC17P078174
GH17J078197 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +52.8 52812 3.4 CTCF PKNOX1 NEUROD1 BATF ZIC2 ZNF507 CTBP1 GATA3 POLR2A ZNF548 PGS1 USP36 TMEM235 SYNGR2 C17orf99 TNRC6C-AS1 ENSG00000200063 RNU6-625P SEPT9 SOCS3
GH17J078112 Enhancer 1.1 ENCODE dbSUPER 12.3 -32.4 -32411 2.5 HDGF ZFP64 ARID4B SIN3A ZNF2 ZNF48 SLC30A9 POLR2B GLIS2 E2F8 TNRC6C-AS1 USP36 AFMID TK1 C17orf99 SYNGR2 RNU6-625P GC17P078107 TMC6 TMC8
GH17J078226 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.1 +81.3 81335 1.8 NFIB ZKSCAN1 HIC1 ZNF316 POLR2A RBM22 ZNF600 MAFK ZNF189 MAFG BIRC5 TK1 AFMID SYNGR2 TNRC6C-AS1 C17orf99 PGS1 ENSG00000200063 GC17M078223 TMEM235
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C17orf99 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C17orf99 gene promoter:
  • p53
  • AML1a
  • Nkx6-1
  • Pax-5
  • GATA-3
  • GATA-2
  • GATA-1
  • POU3F1

Genomic Locations for C17orf99 Gene

Genomic Locations for C17orf99 Gene
20,865 bases
Plus strand
19,931 bases
Plus strand

Genomic View for C17orf99 Gene

Genes around C17orf99 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C17orf99 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C17orf99 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C17orf99 Gene

Proteins for C17orf99 Gene

  • Protein details for C17orf99 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein IL-40
    Protein Accession:

    Protein attributes for C17orf99 Gene

    265 amino acids
    Molecular mass:
    29091 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C17orf99 Gene

Post-translational modifications for C17orf99 Gene

  • Glycosylation at Asn132 and posLast=8686
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C17orf99 Gene

Domains & Families for C17orf99 Gene

Gene Families for C17orf99 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for C17orf99 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C17orf99: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C17orf99 Gene

Function for C17orf99 Gene

Molecular function for C17orf99 Gene

UniProtKB/Swiss-Prot Function:
Probable B cell-associated cytokine that plays a role in the regulation of humoral immune responses. Involved in lymphocyte B cell development and immunoglobulin/IgA production.

Phenotypes From GWAS Catalog for C17orf99 Gene

Phenotypes for C17orf99 Gene

MGI mutant phenotypes for C17orf99:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with C17orf99: view

Animal Models for C17orf99 Gene

MGI Knock Outs for C17orf99:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C17orf99 Gene

Localization for C17orf99 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C17orf99 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C17orf99 gene
Compartment Confidence
extracellular 4
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for C17orf99 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C17orf99: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C17orf99 Gene

Pathways & Interactions for C17orf99 Gene

SuperPathways for C17orf99 Gene

No Data Available

Interacting Proteins for C17orf99 Gene

Gene Ontology (GO) - Biological Process for C17orf99 Gene


No data available for Pathways by source and SIGNOR curated interactions for C17orf99 Gene

Drugs & Compounds for C17orf99 Gene

No Compound Related Data Available

Transcripts for C17orf99 Gene

mRNA/cDNA for C17orf99 Gene

(7) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C17orf99 Gene

Chromosome 17 open reading frame 99:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C17orf99 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b
SP1: -
SP2: -

Relevant External Links for C17orf99 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C17orf99 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C17orf99 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C17orf99 Gene

This gene is overexpressed in Whole Blood (x8.3).

NURSA nuclear receptor signaling pathways regulating expression of C17orf99 Gene:


SOURCE GeneReport for Unigene cluster for C17orf99 Gene:


mRNA Expression by UniProt/SwissProt for C17orf99 Gene:

Tissue specificity: Expressed in fetal liver and bone marrow (PubMed:28978694). Expressed in peripheral blood lymphocyte B cells (PubMed:28978694).
genes like me logo Genes that share expression patterns with C17orf99: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C17orf99 Gene

Orthologs for C17orf99 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C17orf99 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C17H17orf99 33
  • 97.99 (n)
C17orf99 34
  • 63 (a)
(Canis familiaris)
Mammalia C9H17orf99 33
  • 77.14 (n)
C17orf99 34
  • 55 (a)
(Mus musculus)
Mammalia 6030468B19Rik 16 34 33
  • 70.35 (n)
(Rattus norvegicus)
Mammalia LOC688282 33
  • 68.25 (n)
(Ornithorhynchus anatinus)
Mammalia C17orf99 34
  • 43 (a)
Species where no ortholog for C17orf99 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C17orf99 Gene

Gene Tree for C17orf99 (if available)
Gene Tree for C17orf99 (if available)

Paralogs for C17orf99 Gene

No data available for Paralogs for C17orf99 Gene

Variants for C17orf99 Gene

Sequence variations from dbSNP and Humsavar for C17orf99 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000005612 -- 78,157,525(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000189467 -- 78,152,915(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000583088 -- 78,163,653(+) C/T intron_variant
rs1000691176 -- 78,151,911(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000830242 -- 78,162,135(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C17orf99 Gene

Variant ID Type Subtype PubMed ID
nsv1141943 OTHER inversion 24896259
nsv470607 CNV loss 18288195
nsv833554 CNV gain+loss 17160897

Variation tolerance for C17orf99 Gene

Gene Damage Index Score: 3.57; 56.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C17orf99 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C17orf99 Gene

Disorders for C17orf99 Gene

Additional Disease Information for C17orf99

No disorders were found for C17orf99 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C17orf99 Gene

Publications for C17orf99 Gene

  1. Identification of IL-40, a Novel B Cell-Associated Cytokine. (PMID: 28978694) Catalan-Dibene J … Zlotnik A (Journal of immunology (Baltimore, Md. : 1950) 2017) 2 3 4 58
  2. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 58
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4 58
  5. The sequence of the human genome. (PMID: 11181995) Venter JC … Zhu X (Science (New York, N.Y.) 2001) 3 58

Products for C17orf99 Gene

Sources for C17orf99 Gene

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