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IL34 Gene

protein-coding   GIFtS: 51
GCID: GC16P070613

Interleukin 34

(Previous name: chromosome 16 open reading frame 77)
(Previous symbol: C16orf77)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Interleukin 341 2
C16orf771 2 3 5
IL-342 3
Chromosome 16 Open Reading Frame 771
interleukin-342

External Ids:    HGNC: 285291   Entrez Gene: 1464332   Ensembl: ENSG000001573687   OMIM: 6120815   UniProtKB: Q6ZMJ43   

Export aliases for IL34 gene to outside databases

Previous GC identifers: GC16P069239 GC16P070680 GC16P056451


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IL34 Gene:
Interleukin-34 is a cytokine that promotes the differentiation and viability of monocytes and macrophages through
the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin et al., 2008 (PubMed 18467591)).(supplied by
OMIM, May 2008)

GeneCards Summary for IL34 Gene:
IL34 (interleukin 34) is a protein-coding gene. GO annotations related to this gene include macrophage colony-stimulating factor receptor binding and cytokine activity.

UniProtKB/Swiss-Prot: IL34_HUMAN, Q6ZMJ4
Function: Cytokine that promotes the proliferation, survival and differentiation of monocytes and macrophages.
Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in
inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and
differentiation, and in the regulation of bone resorption. Signaling via CSF1R and its downstream effectors
stimulates phosphorylation of MAPK1/ERK2 AND MAPK3/ERK1

Gene Wiki entry for IL34 (Interleukin 34) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the IL34 gene promoter:
         USF1   RFX1   Sp1   POU3F2   YY1   FOXL1   E47   AREB6   CP2   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIL34 promoter sequence
   Search Chromatin IP Primers for IL34

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IL34


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

IL34 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL34 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P070613:  view genomic region     (about GC identifiers)

Start:
70,613,798 bp from pter      End:
70,694,585 bp from pter
Size:
80,788 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IL34_HUMAN, Q6ZMJ4 (See protein sequence)
Recommended Name: Interleukin-34 precursor  
Size: 242 amino acids; 27482 Da
Subunit: Homodimer. Interacts with CSF1R
4 PDB 3D structures from and Proteopedia for IL34:
4DKC (3D)        4DKD (3D)        4DKE (3D)        4DKF (3D)    
Secondary accessions: B2RC28 B2Z4A8 B2ZC70 Q8N6L2
Alternative splicing: 2 isoforms:  Q6ZMJ4-1   Q6ZMJ4-2   

Explore the universe of human proteins at neXtProt for IL34: NX_Q6ZMJ4

Explore proteomics data for IL34 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn76

  • See IL34 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001166242.1  NP_001166243.1  NP_689669.2  

    ENSEMBL proteins: 
     ENSP00000455240   ENSP00000288098   ENSP00000463886   ENSP00000397863  

    IL34 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for IL34

     
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    antibodies-online proteins for IL34 (11 products) 

     
    antibodies-online peptides for IL34

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IL: Interleukins and interleukin receptors

    1 InterPro protein domain:
     IPR020415 IL-34

    Graphical View of Domain Structure for InterPro Entry Q6ZMJ4

    ProtoNet protein and cluster: Q6ZMJ4

    UniProtKB/Swiss-Prot: IL34_HUMAN, Q6ZMJ4
    Similarity: Belongs to the IL-34 family


    Find genes that share domains with IL34           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IL34_HUMAN, Q6ZMJ4
    Function: Cytokine that promotes the proliferation, survival and differentiation of monocytes and macrophages.
    Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in
    inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and
    differentiation, and in the regulation of bone resorption. Signaling via CSF1R and its downstream effectors
    stimulates phosphorylation of MAPK1/ERK2 AND MAPK3/ERK1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0005157macrophage colony-stimulating factor receptor binding IDA18467591
    GO:0008083growth factor activity IEA--
         
    Find genes that share ontologies with IL34           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Il34):
     cellular  hematopoietic system  immune system  mortality/aging  nervous system 
     no phenotypic analysis 

    Find genes that share phenotypes with IL34           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for IL34

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate IL34:
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    SwitchGear 3'UTR luciferase reporter plasmidIL34 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IL34_HUMAN, Q6ZMJ4: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA18467591

    Find genes that share ontologies with IL34           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IL34
    Interactions:

        Search GeneGlobe Interaction Network for IL34

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for IL34 (Q6ZMJ42, 3 ENSP000002880984) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2878820 I2D: score=2 STRING: ENSP00000244769
    CSF1RENSP000002863014STRING: ENSP00000286301
    IGHG1ENSP000003749904STRING: ENSP00000374990
    IGKCENSP000003747774STRING: ENSP00000374777
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation IDA18467591
    GO:0006954inflammatory response IEA--
    GO:0008284positive regulation of cell proliferation IDA18467591
    GO:0045087innate immune response IEA--

    Find genes that share ontologies with IL34           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IL34



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IL34 gene (3 alternative transcripts): 
    NM_001172771.1  NM_001172772.1  NM_152456.2  

    Unigene Cluster for IL34:

    Interleukin 34
    Hs.461214  [show with all ESTs]
    Unigene Representative Sequence: NM_152456
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000563721 ENST00000569641 ENST00000288098 ENST00000574181 ENST00000566361
    ENST00000429149(uc002ezh.2 uc002ezi.2 uc021tkk.1)
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate IL34:
    hsa-miR-31 hsa-miR-576-3p hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidIL34 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK172744.1 AK307727.1 AK308799.1 AK314913.1 BC029804.1 EU599219.1 EU636994.1 

    5 DOTS entries:

    DT.97811993  DT.301977  DT.100023883  DT.100673583  DT.439557 

    Selected AceView cDNA sequences (see all 68):

    Z44473 BU147190 CA440839 BQ709387 CR592247 BX096539 BM987832 BM708599 
    BQ710080 BP338016 BM919848 BQ706007 BQ711901 CR615780 BQ710357 BM008008 
    AK172744 BM008227 BI751993 AW292500 BC029804 BM805873 BI838467 BM021990 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for IL34    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b
    SP1:                    -                             -                     
    SP2:                    -                             -                     
    SP3:                                                                        
    SP4:                    -     -                                             


    ECgene alternative splicing isoforms for IL34

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IL34 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTCACCTG
    IL34 Expression
    About this image

    IL34 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IL34 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.461214

    UniProtKB/Swiss-Prot: IL34_HUMAN, Q6ZMJ4
    Tissue specificity: Detected in the sinusoidal epithelium in the red pulp of spleen (at protein level).
    Predominantly expressed in spleen. Also detected in a range of other tissues including heart, brain, lung, liver,
    kidney, thymus, testis, ovary, small intestine, prostate and colon

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for IL34 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Il341 , 5 interleukin 341, 5 79.19(n)1
    73.24(a)1
      8 (57.68 cM)5
    765271  NM_001135100.21  NP_001128572.11 
     1107418295 
    chicken
    (Gallus gallus)
    Aves IL346
    interleukin 34
    40(a)
    1 ↔ 1
    11(1707758-1713030)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia il341 interleukin 34 47.02(n)
    40.4(a)
      101734802  XM_004914044.1  XP_004914101.1 
    zebrafish
    (Danio rerio)
    Actinopterygii il346
    il346
    interleukin 34
    30(a)
    30(a)
    many → 1
    many → 1
    18(18309492-18325712) ENSDARG00000069128
    18(18186339-18202526) ENSDARG00000091003


    ENSEMBL Gene Tree for IL34 (if available)
    TreeFam Gene Tree for IL34 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IL34 (see all 2141)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1860790291,2
    --70612116(+) TGACAC/GAGATA 2 -- us2k10--------
    rs1495460681,2
    C--70612211(+) CCTCAA/GCTCCC 2 -- us2k10--------
    rs1472424221,2
    --70612221(+) CGTAAA/GTGCTG 2 -- us2k10--------
    rs1153759631,2
    C,F--70612239(+) GGCCAC/TGTGTT 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1910798941,2
    --70612253(+) CCAGGA/TCAGGT 2 -- us2k10--------
    rs1467162601,2
    C--70612330(+) AAGAT-/TCTCTCT 2 -- us2k10--------
    rs2005088541,2
    --70612356(+) TCTCT-/CTTTTT 2 -- us2k10--------
    rs763232791,2
    C,F--70612357(+) TCTCTT/CTTTTT 2 -- us2k12Minor allele frequency- C:0.14WA EA 238
    rs1169246841,2
    F--70612448(+) AGCCTC/TGACCT 2 -- us2k11Minor allele frequency- T:0.03NA 120
    rs1828583881,2
    --70612483(+) CTCAGC/TCTCCC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for IL34 (70613798 - 70694585 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for IL34:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660602CNV Deletion23128226
    nsv517391CNV Loss19592680
    dgv2904n71CNV Loss21882294
    nsv906881CNV Loss21882294
    nsv906883CNV Loss21882294
    dgv2906n71CNV Loss21882294
    dgv2905n71CNV Loss21882294
    esv26820CNV Loss19812545
    nsv471094CNV Loss18288195
    nsv7285OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): IL34
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IL34
    DNA2.0 Custom Variant and Variant Library Synthesis for IL34

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612081    OMIM disorders: --


    Find genes that share disorders with IL34           About GenesLikeMe


    Export disorders for IL34 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IL34 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with IL34)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Discovery of a cytokine and its receptor by functional screening of the extracellular proteome. (PubMed id 18467591)1, 2, 3 Lin H.... Williams L.T. (Science 2008)
    2. Functional overlap but differential expression of CSF-1 and IL-34 in their CSF-1 receptor-mediated regulation of myeloid cells. (PubMed id 20504948)1, 2 Wei S.... Stanley E.R. (J. Leukoc. Biol. 2010)
    3. Cloning and expression of feline colony stimulating factor receptor (CSF-1R) and analysis of the species specificity of stimulation by colony stimulating factor-1 (CSF-1) and interleukin-34 (IL-34). (PubMed id 23260168)1 Gow D.J....Hume D.A. (Cytokine 2013)
    4. Elevated serum and synovial fluid levels of interleukin-34 in rheumatoid arthritis: possible association with disease progression via interleukin-17 production. (PubMed id 23421370)1 Tian Y....Lu J. (amp 2013)
    5. Receptor-type protein-tyrosine phosphatase IP is a functional receptor for interleukin-34. (PubMed id 23744080)1 Nandi S....Stanley E.R. (J. Biol. Chem. 2013)
    6. Stroma-derived interleukin-34 controls the development and maintenance of langerhans cells and the maintenance of microglia. (PubMed id 23177320)1 Greter M....Becher B. (Immunity 2012)
    7. Interleukin-34 produced by human fibroblast-like synovial cells in rheumatoid arthritis supports osteoclastogenesis. (PubMed id 22264405)1 Hwang S.J....Chang E.J. (amp 2012)
    8. Interleukin 34 expression is associated with synovitis severity in rheumatoid arthritis patients. (PubMed id 22039170)1 Chemel M....Heymann D. (Ann. Rheum. Dis. 2012)
    9. Increased serum interleukin-34 in patients with coronary artery disease. (PubMed id 23206468)1 Li Z....Chen Z. (J. Int. Med. Res. 2012)
    10. IL-34 and M-CSF share the receptor Fms but are not identical in biological activity and signal activation. (PubMed id 20489731)2 Chihara T.... Okada S. (Cell Death Differ. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 146433 HGNC: 28529 AceView: MGC34647 Ensembl:ENSG00000157368 euGenes: HUgn146433
    ECgene: IL34 H-InvDB: IL34

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IL34 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IL34 gene:
    Search GeneIP for patents involving IL34

    GeneCards and IP:
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