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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IGSF9 Gene

protein-coding   GIFtS: 47
GCID: GC01M159896

immunoglobulin superfamily, member 9

 Explore 1 disease affiliated with
IGSF9 via our new
 Human Malady Compendium 
Biological research products
for IGSF9
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Immunoglobulin Superfamily, Member 91 2     FP187982
IGSF9A1 2 3     Protein Turtle Homolog A2
KIAA13551 3 5     IgSF9A3
Nrt11 2     NRT13
Immunoglobulin Superfamily Member 9A2 3     

External Ids:    HGNC: 181321   Entrez Gene: 575492   Ensembl: ENSG000000855527   OMIM: 6097385   UniProtKB: Q9P2J23   

Export aliases for IGSF9 gene to outside databases

Previous GC identifers: GC01M157689 GC01M155629 GC01M156674 GC01M157113 GC01M156709 GC01M158163 GC01M131253


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: TUTLA_HUMAN, Q9P2J2
Function: Functions in dendrite outgrowth and synapse maturation (By similarity)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IGSF9 gene promoter:
         CUTL1   Nkx2-5   Tal-1beta   HNF-3beta   E47   GATA-1   Arnt   AREB6   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIGSF9 promoter sequence
   Search SABiosciences Chromatin IP Primers for IGSF9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IGSF9


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

Entrez Gene cytogenetic band: 1q22-q23   Ensembl cytogenetic band:  1q23.2   HGNC cytogenetic band: 1q22-q23

IGSF9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGSF9 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M159896:  view genomic region     (about GC identifiers)

Start:
159,896,829 bp from pter      End:
159,915,386 bp from pter
Size:
18,558 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TUTLA_HUMAN, Q9P2J2 (See protein sequence)
Recommended Name: Protein turtle homolog A precursor  
Size: 1179 amino acids; 126580 Da
Subunit: Interacts with MAGI2 and SHANK1 (By similarity)
Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, synapse (By
similarity). Note=Enriched at the excitatory synapses in mature neurons (By similarity)
Developmental stage: Expressed in a wide variety of tissues at 8 and 14 weeks of gestation
Sequence caution: Sequence=BAA92593.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for IGSF9:
1V5J (3D)    

Explore the universe of human proteins at neXtProt for IGSF9: NX_Q9P2J2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P2J2

  • IGSF9 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001128522.1  NP_065840.2  

    ENSEMBL proteins: 
     ENSP00000355049   ENSP00000357073  

    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for IGSF9

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0030054cell junction IEA--
    GO:0030425dendrite IEA--
    GO:0045202synapse IEA--


    IGSF9 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    IGSF9 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR013783 Ig-like_fold
     IPR003599 Ig_sub
     IPR003961 Fibronectin_type3

    Graphical View of Domain Structure for InterPro Entry Q9P2J2

    ProtoNet protein and cluster: Q9P2J2

    1 Blocks protein family: IPB003598 Immunoglobulin C-2 type

    UniProtKB/Swiss-Prot: TUTLA_HUMAN, Q9P2J2
    Domain: The PDZ-binding motif mediates interactions with MAGI2 and SHANK1 (By similarity)
    Similarity: Belongs to the immunoglobulin superfamily. Turtle family
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 5 Ig-like (immunoglobulin-like) domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TUTLA_HUMAN, Q9P2J2
    Function: Functions in dendrite outgrowth and synapse maturation (By similarity)

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate IGSF9:
    hsa-miR-3607-3p hsa-miR-486-3p
    SwitchGear 3'UTR luciferase reporter plasmidIGSF9 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IGSF9 (see all 7)
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    Search LifeMap BioReagents cell lines for IGSF9

    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGSF9

    Animal Models:
         Mouse knock-out Igsf9tm1Kln for IGSF9
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Igsf9):
     normal 

    IGSF9 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IGSF9

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for IGSF9 (Q9P2J23 ENSP000003570734) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ASCC2Q9H1I83, ENSP000003055024I2D: score=4 STRING: ENSP00000305502
    SART3ENSP000002282844STRING: ENSP00000228284
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016358dendrite development IEA--


    IGSF9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IGSF9
    Search CenterWatch for drugs/clinical trials and news about IGSF9 / TUTLA 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IGSF9 gene (2 alternative transcripts): 
    NM_001135050.1  NM_020789.3  

    Unigene Cluster for IGSF9:

    Immunoglobulin superfamily, member 9
    Hs.591472  [show with all ESTs]
    Unigene Representative Sequence: AK056650
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361509(uc001fuq.2) ENST00000368094(uc001fur.2) ENST00000493195
    ENST00000496645(uc001fup.2) ENST00000476102

    miRNA
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    OriGene 3'-UTR Clone (see all 2): IGSF9
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IGSF9
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate IGSF9:
    hsa-miR-3607-3p hsa-miR-486-3p
    SwitchGear 3'UTR luciferase reporter plasmidIGSF9 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB037776.1 AK056650.1 AY203932.1 AY358128.1 BC030141.2 

    9 DOTS entries:

    DT.100776650  DT.100019556  DT.99964805  DT.100766129  DT.210991  DT.102825313  DT.95100417  DT.121427605 
    DT.97824360 

    24/1765 AceView cDNA sequences (see all 1765):

    BM695091 CA406210 BM917558 BU528246 AL551487 BF218499 BM987932 BU527353 
    BU196771 AA359323 BE743566 BQ066807 CR607405 BQ877154 BE408544 BP368128 
    BG424747 BF914953 AL544512 BM832133 BQ962344 AL547597 R72048 BU849556 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for IGSF9 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b ·
    SP1:                                                  -                                                     -                       -           -               
    SP2:                                      -           -                                                     -                       -           -               
    SP3:                                                  -                 -     -     -     -     -     -     -     -     -     -     -     -     -     -         
    SP4:                                                                          -                             -                       -                           
    SP5:                                                                                                        -                                                   

    ExUns: 17c ^ 18 ^ 19a · 19b · 19c
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for IGSF9

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IGSF9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    IGSF9 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneMaxillary ProcessBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See IGSF9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IGSF9

    SOURCE GeneReport for Unigene cluster: Hs.591472
        SABiosciences Custom PCR Arrays for IGSF9
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGSF9

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for IGSF9 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves IGSF91 immunoglobulin superfamily, member 9 65.99(n)
    61.46(a)
      425454  XM_423214.3  XP_423214.3 
    lizard
    (Anolis carolinensis)
    Reptilia IGSF96
    --
    --
    55(a)
    17(a)
    1 ↔ 1
    possible ortholog
    GL344498.1(935-25604)
    GL344575.1(6152-16522)
    zebrafish
    (Danio rerio)
    Actinopterygii igsf9b1 immunoglobulin superfamily, member 9b 51.99(n)
    46.85(a)
      553348  XM_681113.5  XP_686205.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta tutl3 adult locomotory behavior 30(a)   24E1   --


    ENSEMBL Gene Tree for IGSF9 (if available)
    TreeFam Gene Tree for IGSF9 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IGSF9 gene
    IGSF9B2  
    1 SIMAP similar gene for IGSF9 using alignment to 1 protein entry:     TUTLA_HUMAN:
    IGSF9B

    IGSF9 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/360 NCBI SNPs in IGSF9 are shown (see all 360    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs21532081,2
    C,F,A,H,--159897327(-) TGCCCG/ACCTCT 2 -- int126Minor allele frequency- A:0.16NS EA NA CSA WA EU 3460
    rs412648331,2
    C,F,--159897328(+) GAGGCG/AGGCAG 2 -- int11Minor allele frequency- A:0.02EU 703
    rs1389407391,2
    C,--159897350(+) GAAGCC/TCTGAG 2 -- int10--------
    rs1415106471,2
    --159897377(+) GCTCAC/GATGTG 2 -- int10--------
    rs19340741,2
    C,F,O,A,H,--159897388(-) CTAGCG/AAGCTT 2 -- int134Minor allele frequency- A:0.40MN EA NA NS WA 3504
    rs1897999671,2
    --159897421(+) AAGGGA/GGCAAG 2 -- int10--------
    rs1818918711,2
    --159897455(+) TGGGAA/GGCAGG 2 -- int10--------
    rs1154649631,2
    C,F,--159897535(+) TTTCCG/AGGGGG 2 -- int11Minor allele frequency- A:0.03WA 118
    rs13190801,2
    C,F,H,--159897559(+) CTCTGG/TCTCAG 4 T P mis121Minor allele frequency- T:0.09EA NA NS EU 8731
    rs775702371,2
    C,F,--159897638(+) AATTCT/CGAGTC 4 /S syn15Minor allele frequency- C:0.06WA NA EA EU 6153

    HapMap Linkage Disequilibrium report for IGSF9 (159896829 - 159915386 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for IGSF9: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IGSF9
    DNA2.0 Custom Variant and Variant Library Synthesis for IGSF9

    (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.)
    About This Section

    IGSF9 for disorders           About GeneDecksing

    OMIM gene information: 609738    OMIM disorders: --

    1 disease for IGSF9:    About MalaCards
    neuronitis


    Export disorders for IGSF9 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)
    About This Section

    PubMed articles for IGSF9 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with IGSF9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of Igsf9 in mouse and human: a new member of the immunoglobulin superfamily expressed in the developing nervous system. (PubMed id 11991715)1, 2, 3 Doudney K.... Stanier P. (2002)
    2. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (2000)
    3. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1 Clark H.F.... Gray A.M. (2003)
    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. (2002)
    7. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (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)
    About This Section
    Entrez Gene: 57549 HGNC: 18132 AceView: TAGLN2andNESG1andIGSF9 Ensembl:ENSG00000085552 euGenes: HUgn57549
    ECgene: IGSF9 H-InvDB: IGSF9

    (According to HUGE)
    About This Section
    HUGE: KIAA1355

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IGSF9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IGSF9 gene:
    Search GeneIP for patents involving IGSF9

    GeneCards and IP:
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