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KIRREL Gene

protein-coding   GIFtS: 60
GCID: GC01P157963

Kin Of IRRE Like (Drosophila)

  See related diseases
at  

(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
Kin Of IRRE Like (Drosophila)1 2     Kin Of IRRE-Like Protein 12
Nephrin-Like Protein 11 2 3     Nephrin Related2
NEPH12 3 5     KIRREL13
Kin Of Irregular Chiasm-Like Protein 12 3     

External Ids:    HGNC: 157341   Entrez Gene: 552432   Ensembl: ENSG000001838537   OMIM: 6074285   UniProtKB: Q96J843   

Export aliases for KIRREL gene to outside databases

Previous GC identifers: GC01U990326 GC01P154741 GC01P155180 GC01P155179 GC01P154776 GC01P156229 GC01P129321


(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 KIRREL Gene:
NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762).
The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the
genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration
(Sellin et al., 2003 (PubMed 12424224)).(supplied by OMIM, Mar 2008)

GeneCards Summary for KIRREL Gene:
KIRREL (kin of IRRE like (Drosophila)) is a protein-coding gene. Diseases associated with KIRREL include familial nephrotic syndrome, and nephrotic syndrome. GO annotations related to this gene include myosin binding. An important paralog of this gene is KIRREL3.

UniProtKB/Swiss-Prot: KIRR1_HUMAN, Q96J84
Function: Plays a significant role in the normal development and function of the glomerular permeability.
Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1
(By similarity)

Gene Wiki entry for KIRREL 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:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIRREL gene promoter:
         Max1   TBP   c-Fos   AP-1   ATF-2   POU3F2 (N-Oct-5b)   c-Jun   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIRREL promoter sequence
   Search Chromatin IP Primers for KIRREL

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


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

Entrez Gene cytogenetic band: 1q21-q25   Ensembl cytogenetic band:  1q23.1   HGNC cytogenetic band: 1q21-q25

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P157963:  view genomic region     (about GC identifiers)

Start:
157,963,063 bp from pter      End:
158,070,052 bp from pter
Size:
106,990 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KIRR1_HUMAN, Q96J84 (See protein sequence)
Recommended Name: Kin of IRRE-like protein 1 precursor  
Size: 757 amino acids; 83536 Da
Subunit: Interacts with TJP1/ZO-1 and with NPHS2/podocin (via the C-terminus). Interacts with NPHS1/nephrin (via
the Ig-like domains); this interaction is dependent on KIRREL glycosylation. Homodimer (via the Ig-like domains).
Interacts when tyrosine-phosphorylated with GRB2 (By similarity)
Sequence caution: Sequence=AAP59845.1; Type=Frameshift; Positions=19; Sequence=BAA91850.1; Type=Erroneous
initiation; Sequence=BAB14192.1; Type=Erroneous initiation;
Secondary accessions: Q5W0F8 Q5XKC6 Q7Z696 Q7Z7N8 Q8TB15 Q9H9N1 Q9NVA5
Alternative splicing: 3 isoforms:  Q96J84-1   Q96J84-2   Q96J84-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIRREL: NX_Q96J84

Explore proteomics data for KIRREL at MOPED

Post-translational modifications: 

  • Phosphorylation probably regulates the interaction with NSH2. Phosphorylated at Tyr-605 and Tyr-606 by FYN,
    leading to GRB2 binding (By similarity)1
  • N-glycosylated (By similarity)1
  • Ubiquitination2 at Lys582, Lys599, Lys729
  • Glycosylation2 at Asn46, Asn140, Asn297, Asn471
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001273278.1  NP_060710.3  

    ENSEMBL proteins: 
     ENSP00000353202   ENSP00000352138   ENSP00000357154   ENSP00000357155   ENSP00000376098  
     ENSP00000389674  

    KIRREL Human Recombinant Protein Products:

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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:
    C2SET: Immunoglobulin superfamily / C2-set domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    Selected InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR013162 CD80_C2-set
     IPR003599 Ig_sub
     IPR013098 Ig_I-set

    Graphical View of Domain Structure for InterPro Entry Q96J84

    ProtoNet protein and cluster: Q96J84

    3 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB003599 Immunoglobulin subtype
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: KIRR1_HUMAN, Q96J84
    Similarity: Belongs to the immunoglobulin superfamily
    Similarity: Contains 5 Ig-like C2-type (immunoglobulin-like) domains


    KIRREL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KIRR1_HUMAN, Q96J84
    Function: Plays a significant role in the normal development and function of the glomerular permeability.
    Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1
    (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0017022myosin binding IPI--
         
    KIRREL for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KIRREL:
     Large cells 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kirrel):
     growth/size/body  homeostasis/metabolism  mortality/aging  renal/urinary system 

    KIRREL for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIRREL
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    miRNA
    Products:
        
    miRTarBase miRNAs that target KIRREL:
    hsa-mir-335-5p (MIRT017050), hsa-mir-615-3p (MIRT040202), hsa-mir-99b-3p (MIRT038527)

    Block miRNA regulation of human, mouse, rat KIRREL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIRREL (see all 24):
    hsa-miR-642a hsa-miR-1224-3p hsa-miR-3614-3p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-486-3p hsa-miR-3074-3p
    SwitchGear 3'UTR luciferase reporter plasmidKIRREL 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KIRREL
    Predesigned siRNA for gene silencing in human, mouse, rat KIRREL

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: KIRREL (NM_018240)
    Sino Biological Human cDNA Clone for KIRREL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIRREL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIRREL

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


    (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
    KIRR1_HUMAN, Q96J84: Cell membrane; Single-pass type I membrane protein (Potential). Note=Predominantly located
    at podocyte slit diaphragm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005911cell-cell junction IDA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0043198dendritic shaft IEA--

    KIRREL for ontologies           About GeneDecksing


    (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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    SuperPaths for KIRREL About    
    See pathways by source

    SuperPathContained pathways About
    1Cell junction organization
    Cell-Cell communication0.64
    2Nephrin/Neph1 signaling in the kidney podocyte
    Nephrin/Neph1 signaling in the kidney podocyte
    3Nephrin interactions
    Nephrin interactions


    1 BioSystems Pathway for KIRREL
        Nephrin/Neph1 signaling in the kidney podocyte



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIRREL
    Interactions:

        GeneGlobe Interaction Network for KIRREL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KIRREL (Q96J843 ENSP000003521384) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPHS1O605003, ENSP000003681904I2D: score=2 STRING: ENSP00000368190
    TJP1Q071573, ENSP000002815374I2D: score=2 STRING: ENSP00000281537
    NPHS2Q9NP853, ENSP000003565874I2D: score=1 STRING: ENSP00000356587
    DLL1O005483, ENSP000003557184I2D: score=1 STRING: ENSP00000355718
    ACTN2ENSP000003555374STRING: ENSP00000355537
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001933negative regulation of protein phosphorylation IEA--
    GO:0007588excretion IEA--
    GO:0016337cell-cell adhesion IEA--
    GO:0030838positive regulation of actin filament polymerization IEA--

    KIRREL for ontologies           About GeneDecksing



    (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 KIRREL (KIRR1)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KIRREL gene (2 alternative transcripts): 
    NM_001286349.1  NM_018240.6  

    Unigene Clusters for KIRREL:

    Kin of IRRE like (Drosophila)
    Hs.609291  [show with all ESTs], Hs.657006  [show with all ESTs]
    Unigene Representative Sequences: AK090554, NM_018240
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360089(uc009wsq.3) ENST00000359209 ENST00000368172 ENST00000368173(uc001frn.4 uc010pib.2 uc001fro.4)
    ENST00000392272 ENST00000416935
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KIRREL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIRREL (see all 24):
    hsa-miR-642a hsa-miR-1224-3p hsa-miR-3614-3p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-486-3p hsa-miR-3074-3p
    SwitchGear 3'UTR luciferase reporter plasmidKIRREL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KIRREL
    Clone
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    GenScript: all cDNA clones in your preferred vector: KIRREL (NM_018240)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIRREL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIRREL
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat KIRREL
      QuantiFast Probe-based Assays in human, mouse, rat KIRREL

    Additional mRNA sequence: 

    AK001707.1 AK022708.1 AK297788.1 AY017369.1 AY302131.1 BC025268.1 BC051356.1 BC067097.1 
    BC082969.1 BC109192.1 BC109193.1 

    5 DOTS entries:

    DT.451710  DT.121399784  DT.97836881  DT.40238004  DT.95219794 

    Selected AceView cDNA sequences (see all 165):

    CB268920 BU850308 BX111482 H21758 AU133135 BQ677239 BC067097 AA421324 
    BU625441 AA872682 NM_018240 AA418327 BU634233 AW338397 CA417751 BM725513 
    CA418475 AU125669 BE349021 AK098412 BC025268 AA253383 AI521517 BQ772787 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for KIRREL

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


    KIRREL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Podocytes Podocyte Layer
             Renal-like cells
     
     Epithelial Cells
             Podocytes Podocyte Layer
     
     Lung (Respiratory System)
             Basal Cells Trachea
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
    KIRREL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIRREL Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.609291 Hs.657006

    UniProtKB/Swiss-Prot: KIRR1_HUMAN, Q96J84
    Tissue specificity: Abundantly expressed in kidney. Specifically expressed in podocytes of kidney glomeruli

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    QuantiFast Probe-based Assays in human, mouse, rat KIRREL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIRREL

    (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 animals.

    Orthologs for KIRREL gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kirrel1 , 5 kin of IRRE like (Drosophila)1, 5 88.47(n)1
    96.89(a)1
      3 (38.18 cM)5
    1706431  NM_130867.31  NP_570937.21 
     870785935 
    chicken
    (Gallus gallus)
    Aves KIRREL1 kin of IRRE like (Drosophila) 78.93(n)
    82.47(a)
      425302  XM_004948175.1  XP_004948232.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIRREL6
    kin of IRRE like (Drosophila)
    79(a)
    1 ↔ 1
    GL344594.1(14413-27119)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.137452 Transcribed sequences 75.42(n)    BX735213.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kirrela1 kin of IRRE like a 64.45(n)
    66.12(a)
      405804  NM_212868.1  NP_998033.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rst1 roughest 45.55(n)
    33.59(a)
      31290  NM_080319.4  NP_525058.2 
    worm
    (Caenorhabditis elegans)
    Secernentea syg-16
    Protein SYG-1, isoform b (syg-1) mRNA, complete cd...
    21(a)
    1 → many
    X(2509608-2515317) WBGene00006365


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIRREL gene
    KIRREL32  KIRREL22  NPHS12  
    2 SIMAP similar genes for KIRREL using alignment to 4 protein entries:     KIRR1_HUMAN (see all proteins):
    KIRREL3    KIRREL2

    KIRREL for paralogs           About GeneDecksing



    (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 KIRREL (see all 1960)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs719922301,2
    C--157961087(+) CTTCA-/A/AA  
            
    AAAAA
    1 -- us2k11CSA 2
    rs1134058081,2
    F--157961227(+) CGCTGG/ACATGT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1885487701,2
    --157961272(+) TGCTAC/TCATCT 1 -- us2k10--------
    rs747097051,2
    C,F--157961322(+) CCCTCA/GGTTCC 1 -- us2k12Minor allele frequency- G:0.15CSA WA 120
    rs1920588731,2
    --157961341(+) TGTGCC/TCAAAT 1 -- us2k10--------
    rs46220581,2
    C,F--157961428(-) aagcaG/Agataa 1 -- us2k12Minor allele frequency- A:0.15CSA WA 120
    rs113063931,2
    C,F--157961539(+) TGTCCT/-TTTTT 1 -- us2k1 tfbs3 trp33Minor allele frequency- -:0.50NA CSA 6
    rs1846563201,2
    C--157961554(+) ATTATG/TATTGT 1 -- us2k10--------
    rs1894233101,2
    C--157961696(+) TTTGGG/TATTGC 1 -- us2k10--------
    rs38562681,2
    C,A--157961747(+) CTGTGC/TTTGCC 1 -- us2k12Minor allele frequency- T:0.15CSA WA 120

    HapMap Linkage Disequilibrium report for KIRREL (157963063 - 158070052 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for KIRREL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718562CNV Deletion23290073
    esv2956CNV Deletion18987735
    esv2667823CNV Deletion23128226
    nsv526592CNV Loss19592680
    nsv523208CNV Gain19592680
    esv5651OTHER Inversion19470904

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIRREL
    DNA2.0 Custom Variant and Variant Library Synthesis for KIRREL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607428    OMIM disorders: --

    8 diseases for KIRREL:    
    About MalaCards
    familial nephrotic syndrome    nephrotic syndrome    steroid-resistant nephrotic syndrome    proteinuria
    diabetic nephropathy    obesity    pancreatitis    malaria

    2 diseases from the University of Copenhagen DISEASES database for KIRREL:
    Proteinuria     Nephrotic syndrome

    KIRREL for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for KIRREL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nphs1 90.3 4 12660326 (1), 12837264 (1), 18971929 (1)
    proteinuria 68.5 2 12660326 (1), 12761234 (1)
    nephrotic syndrome 65.4 1 18971929 (1)

    Genetic Association Database (GAD): KIRREL
    Human Genome Epidemiology (HuGE) Navigator: KIRREL (2 documents)

    Export disorders for KIRREL 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 KIRREL gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with KIRREL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy. (PubMed id 17968527)1, 4, 9 Ihalmo P....Groop P.H. (Diabetologia 2008)
    2. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. (PubMed id 20507940)1, 4 Machuca E....Antignac C. (J. Am. Soc. Nephrol. 2010)
    3. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (Anal. Chem. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. NEPH1 defines a novel family of podocin interacting proteins. (PubMed id 12424224)1, 3 Sellin L.... Walz G. (FASEB J. 2003)
    7. Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN. (PubMed id 11416156)1, 2 Donoviel D.B....Powell D.R. (Mol. Cell. Biol. 2001)
    8. Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1. (PubMed id 12660326)1, 9 Gerke P....Walz G. (J. Am. Soc. Nephrol. 2003)
    9. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    10. Solution structure analysis of cytoplasmic domain of podocyte protein Neph1 using small/wide angle x-ray scattering (SWAXS). (PubMed id 22262837)1 Mallik L....Nihalani D. (J. Biol. Chem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 55243 HGNC: 15734 AceView: KIRREL Ensembl:ENSG00000183853 euGenes: HUgn55243
    ECgene: KIRREL H-InvDB: KIRREL

    (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 KIRREL 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 KIRREL gene:
    Search GeneIP for patents involving KIRREL

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



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