Aliases for C17orf99 Gene

Aliases for C17orf99 Gene

  • Chromosome 17 Open Reading Frame 99 2 3 5
  • Interleukin-40 3 4
  • Protein IL-40 3 4
  • IL-40 3 4
  • Uncharacterized Protein C17orf99 3
  • 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. An important paralog of this gene is FCRL5.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for C17orf99 Gene

Genomics for C17orf99 Gene

GeneHancer (GH) Regulatory Elements for C17orf99 Gene

Promoters and enhancers for C17orf99 Gene
- 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:
  • AML1a
  • GATA-1
  • GATA-2
  • GATA-3
  • Nkx6-1
  • p53
  • Pax-5
  • POU3F1

Genomic Locations for C17orf99 Gene

Genomic Locations for C17orf99 Gene
chr17:78,146,040-78,166,904
(GRCh38/hg38)
Size:
20,865 bases
Orientation:
Plus strand
chr17:76,142,434-76,162,364
(GRCh37/hg19)
Size:
19,931 bases
Orientation:
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:
    Q6UX52-IL40_HUMAN
    Recommended name:
    Protein IL-40
    Protein Accession:
    Q6UX52

    Protein attributes for C17orf99 Gene

    Size:
    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 Asn86 and Asn132
  • 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

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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

Gene Ontology (GO) - Molecular Function for C17orf99 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IEA --
genes like me logo Genes that share ontologies with C17orf99: view

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

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Secreted.

Subcellular locations from

COMPARTMENTS
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 5
plasma membrane 1
nucleus 1
cytosol 1
mitochondrion 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for C17orf99 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,IDA 28978694
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

PathCards logo

SuperPathways for C17orf99 Gene

No Data Available

Interacting Proteins for C17orf99 Gene

Gene Ontology (GO) - Biological Process for C17orf99 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002313 mature B cell differentiation involved in immune response ISS --
GO:0002376 immune system process IEA --
GO:0007165 signal transduction IEA --
GO:2000558 positive regulation of immunoglobulin production in mucosal tissue ISS --
genes like me logo Genes that share ontologies with C17orf99: view

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

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b
SP1: -
SP2: -
SP3:

Relevant External Links for C17orf99 Gene

GeneLoc Exon Structure for
C17orf99
ECgene alternative splicing isoforms for
C17orf99

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:

C17orf99

SOURCE GeneReport for Unigene cluster for C17orf99 Gene:

Hs.633034

mRNA Expression by UniProt/SwissProt for C17orf99 Gene:

Q6UX52-IL40_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia C17H17orf99 32
  • 97.99 (n)
C17orf99 33
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H17orf99 32
  • 77.14 (n)
C17orf99 33
  • 55 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 6030468B19Rik 17 33 32
  • 70.35 (n)
rat
(Rattus norvegicus)
Mammalia LOC688282 32
  • 68.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C17orf99 33
  • 43 (a)
OneToOne
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

ENSEMBL:
Gene Tree for C17orf99 (if available)
TreeFam:
Gene Tree for C17orf99 (if available)

Paralogs for C17orf99 Gene

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

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/A/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
C17orf99

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 56
  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 56
  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 56
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4 56
  5. The sequence of the human genome. (PMID: 11181995) Venter JC … Zhu X (Science (New York, N.Y.) 2001) 3 56

Products for C17orf99 Gene

Sources for C17orf99 Gene