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

Gene ID: 100141515, updated on 22-Sep-2022

Summary

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, Apr 2022]
Expression
Biased expression in bone marrow (RPKM 1.9) and lymph node (RPKM 0.1) See more
Orthologs
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Genomic context

See C17orf99 in Genome Data Viewer
Location:
17q25.3
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78145571..78166297)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79040163..79060396)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76142466..76162378)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CEB72 minisatellite repeat instability region Neighboring gene transmembrane channel like 6 Neighboring gene transmembrane channel like 8 Neighboring gene eukaryotic translation initiation factor 5A pseudogene 2 Neighboring gene synaptogyrin 2 Neighboring gene thymidine kinase 1

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
 
involved_in regulation of immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001163075.2NP_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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017023997.2XP_016879486.2  protein IL-40 isoform X1

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

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

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

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

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

    Conserved Domains (1) summary
    pfam17736
    Location:25114
    Ig_C17orf99; C17orf99 Ig domain
  7. XM_017023998.2XP_016879487.1  protein IL-40 isoform X2

    Conserved Domains (1) summary
    pfam17736
    Location:27121
    Ig_C17orf99; C17orf99 Ig domain
  8. XM_017024000.2XP_016879489.1  protein IL-40 isoform X9

    Conserved Domains (1) summary
    pfam17736
    Location:998
    Ig_C17orf99; C17orf99 Ig domain
  9. XM_017024001.2XP_016879490.1  protein IL-40 isoform X9

    Conserved Domains (1) summary
    pfam17736
    Location:998
    Ig_C17orf99; C17orf99 Ig domain
  10. XM_047435059.1XP_047291015.1  protein IL-40 isoform X5

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    79040163..79060396
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)