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IGSF22 Gene

protein-coding   GIFtS: 42
GCID: GC11M018683

Immunoglobulin Superfamily, Member 22

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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
Immunoglobulin Superfamily, Member 221 2
Immunoglobulin Superfamily Member 222
IgSF223

External Ids:    HGNC: 267501   Entrez Gene: 2832842   Ensembl: ENSG000001790577   UniProtKB: Q8N9C03   

Export aliases for IGSF22 gene to outside databases

Previous GC identifer: GC11M018410


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for IGSF22 Gene:
IGSF22 (immunoglobulin superfamily, member 22) is a protein-coding gene. An important paralog of this gene is MYOM1.


(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_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IGSF22 gene promoter:
         Max1   TBP   Egr-1   HTF   MyoD   Lmo2   Evi-1   AREB6   MZF-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIGSF22 promoter sequence
   Search Chromatin IP Primers for IGSF22

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IGSF22


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

Entrez Gene cytogenetic band: 11p15.1   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15.1

IGSF22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGSF22 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M018683:  view genomic region     (about GC identifiers)

Start:
18,725,852 bp from pter      End:
18,747,777 bp from pter
Size:
21,926 bases      Orientation:
minus 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: IGS22_HUMAN, Q8N9C0 (See protein sequence)
Recommended Name: Immunoglobulin superfamily member 22  
Size: 903 amino acids; 100400 Da
Secondary accessions: A6NNA0 D6RGV7
Alternative splicing: 2 isoforms:  Q8N9C0-1   Q8N9C0-2   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for IGSF22: NX_Q8N9C0

Explore proteomics data for IGSF22 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See IGSF22 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775859.3  
    ENSEMBL proteins: 
     ENSP00000421191   ENSP00000322422  

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    antibodies-online kits for IGSF22 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing

    5 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q8N9C0

    ProtoNet protein and cluster: Q8N9C0

    UniProtKB/Swiss-Prot: IGS22_HUMAN, Q8N9C0
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 4 Ig-like (immunoglobulin-like) domains


    Find genes that share domains with IGSF22           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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with IGSF22           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for IGSF22

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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    golgi apparatus1

    (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 IGSF22
    Interactions:

        Search GeneGlobe Interaction Network for IGSF22

    1 Interacting protein for IGSF22 (Q8N9C02) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    --P310162MINT-8105223
    About this table

    (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 IGSF22 (IGS22)



    (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 IGSF22 gene: 
    NM_173588.3  

    Unigene Cluster for IGSF22:

    Immunoglobulin superfamily, member 22
    Hs.434152  [show with all ESTs]
    Unigene Representative Sequence: NM_173588
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513874(uc009yht.2) ENST00000319338(uc001mpa.2) ENST00000510673
    ENST00000504981 ENST00000412229
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat IGSF22

    Additional mRNA sequence: 

    BC115396.1 BC115397.1 

    4 DOTS entries:

    DT.95364749  DT.97798566  DT.402934  DT.91885563 

    15 AceView cDNA sequences:

    AI373612 AA255875 AI522227 BM715320 NM_173588 BX499613 AI241151 AI471787 
    BU729524 BI909151 AK095113 AA261925 AI075240 AI952274 AW975293 

    GeneLoc Exon Structure


    (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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    IGSF22 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCAGTGTA
    IGSF22 Expression
    About this image

    IGSF22 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IGSF22 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.434152
        Custom PCR Arrays for IGSF22
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGSF22

    (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 IGSF22 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia IGSF221 immunoglobulin superfamily, member 22 90.16(n)
    91.54(a)
      485408  XM_542527.4  XP_542527.3 
    lizard
    (Anolis carolinensis)
    Reptilia IGSF226
    immunoglobulin superfamily, member 22
    74(a)
    1 ↔ 1
    1(67988391-68033979)


    ENSEMBL Gene Tree for IGSF22 (if available)
    TreeFam Gene Tree for IGSF22 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IGSF22 gene
    MYOM12  MYBPH2  IGFN12  MYBPC22  MYBPC12  MYBPC32  MYBPHL2  MYOM32  
    MYOM22  
    2 SIMAP similar genes for IGSF22 using alignment to 1 protein entry:     IGS22_HUMAN:
    MUSK    TTN

    Find genes that share paralogs with IGSF22           About GenesLikeMe



    (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 IGSF22 (see all 598)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1424135771,2
    --18726848(+) AGGAAA/TAAAAT 1 -- int10--------
    rs1512877491,2
    --18726853(+) TAAAAG/TGCTTC 1 -- int10--------
    rs1908214001,2
    C--18726922(+) CCTTCA/GCTCCT 1 -- int10--------
    rs1833769191,2
    --18726946(+) CCCCCA/CACCGG 1 -- int10--------
    rs1405478771,2
    C--18727036(+) AGAACC/TGTGCC 1 -- int10--------
    rs18678771,2
    C,F,H--18727448(-) CCTGCA/GCGCTC 2 T A mis1 ese317Minor allele frequency- G:0.05MN NS NA WA 2022
    rs1497029321,2
    C--18727463(+) GATGAC/TGAGGG 2 I V mis10--------
    rs1858355101,2
    C--18727704(+) CGGGCA/GGGGCG 1 -- int10--------
    rs748000971,2
    C--18727809(+) AGCGCC/TACCAA 1 -- int10--------
    rs1150372561,2
    C,F--18728088(+) CCGACG/CCGGCC 1 -- int11Minor allele frequency- C:0.07WA 118

    HapMap Linkage Disequilibrium report for IGSF22 (18725852 - 18747777 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for IGSF22:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv825774CNV Loss20364138
    esv25440CNV Loss19812545
    nsv525192CNV Loss19592680
    nsv897028CNV Loss21882294
    nsv525452CNV Gain19592680

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    (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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      --

    (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 IGSF22 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with IGSF22)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PubMed id 21248752)2 Varela I....Futreal P.A. (Nature 2011)
    3. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (EMBO Rep. 2010)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Screening disease-associated proteins from sera of patients with rheumatoid arthritis: a comparative proteomic study. (PubMed id 20367977)9 Li T.W....Gu J.R. (Chin. Med. J. 2010)
    8. Serum disease-associated proteins of ankylosing spondylitis: results of a preliminary study by comparative proteomics. (PubMed id 20483041)9 Li T....Gu J. (Clin. Exp. Rheumatol. 2010)
    9. The invariant system of coordinates of antibody molecules: prediction of the &quot;standard&quot; C alpha framework of VL and VH domains. (PubMed id 8622995)9 Gelfand I.M....Leshchiner D. (Proc. Natl. Acad. Sci. U.S.A. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 283284 HGNC: 26750 AceView: FLJ37794 Ensembl:ENSG00000179057 euGenes: HUgn283284
    ECgene: IGSF22 H-InvDB: IGSF22

    (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 IGSF22 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 IGSF22 gene:
    Search GeneIP for patents involving IGSF22

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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