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

KIRREL Gene

protein-coding   GIFtS: 57
GCID: GC01P157963

kin of IRRE like (Drosophila)
 Explore 7 diseases affiliated with
KIRREL via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KIRREL    

Aliases
for KIRREL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Kin Of IRRE Like (Drosophila)1 2     Kin Of IRRE-Like Protein 12
NEPH11 2 3     Nephrin Related2
Kin Of Irregular Chiasm-Like Protein 12 3     KIRREL13
Nephrin-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


Summaries
for KIRREL gene

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

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


Genomic Views
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 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 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 plasmid: KIRREL promoter sequence
   Search SABiosciences Chromatin IP Primers for KIRREL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for KIRREL gene

(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: 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)
Subcellular location: Cell membrane; Single-pass type I membrane protein (Potential). Note=Predominantly located at
podocyte slit diaphragm
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96J84

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

    REFSEQ proteins: NP_060710.3  
    ENSEMBL proteins: 
     ENSP00000353202   ENSP00000352138   ENSP00000357154   ENSP00000357155   ENSP00000376098  
     ENSP00000389674  
    Reactome Protein details: Q96J84
    Human Recombinant Protein Products: 
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    Uscn Proteins for KIRREL

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005911cell-cell junction IDA--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--
    GO:0031253cell projection membrane ----


    KIRREL for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for KIRREL gene

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

    5/6 InterPro domains/families (see all 6):
     IPR003598 Ig_sub2
     IPR013162 CD80_C2-set
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q96J84

    ProtoNet protein and cluster: Q96J84

    3 Blocks protein families:
    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


    Function
    for KIRREL gene

    (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: 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)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIRREL
    8/24 QIAGEN miScript miRNA 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 plasmid: KIRREL 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0017022myosin binding IPI--


    KIRREL for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for KIRREL:
     Large cells 

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

    KIRREL for phenotypes           About GeneDecksing


    Pathways & Interactions
    for KIRREL gene

    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Nephrin interactions
    		Nephrin interactions1.00
    2Nephrin/Neph1 signaling in the kidney podocyte
    		Nephrin/Neph1 signaling in the kidney podocyte1.00
    3Cell-cell junction organization
    		Cell-Cell communication0.45

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    2        Reactome Pathways for KIRREL
        Nephrin interactions
    Cell-Cell communication



    KIRREL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KIRREL

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

    5/30 Interacting proteins for KIRREL (Q96J843 ENSP000003521384) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPHS1O605003, ENSP000003681904I2D: score=2 STRING: ENSP00000368190
    TJP1Q071573, ENSP000002815374I2D: score=2 STRING: ENSP00000281537
    NPHS2Q9NP853, ENSP000003565874I2D: score=1 STRING: ENSP00000356587
    DLL1O005483I2D: score=1 
    ACTN2ENSP000003555374STRING: ENSP00000355537
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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



    Drugs & Compounds
    for KIRREL gene

    (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 KIRREL
    Search CenterWatch for drugs/clinical trials and news about KIRREL / KIRR1 

    Transcripts
    for KIRREL gene

    (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 KIRREL gene: 
    NM_018240.5  

    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
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    8/24 QIAGEN miScript miRNA 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 plasmid: KIRREL 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KIRREL (see all 3)
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIRREL

    Additional cDNA 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 

    24/165 AceView cDNA sequences (see all 165):

    H21758 BX111482 CB268920 BU850308 AU133135 BC067097 BU625441 BQ677239 
    AA421324 AA872682 NM_018240 AA418327 AW338397 BU634233 BC051356 AK096361 
    AI049973 BQ001667 BU621830 AK022708 AY302131 AI521517 AA341614 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

    Expression
    for KIRREL gene

    (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

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

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

    KIRREL 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)
    KidneyPodocyte LayerPodocytesKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Renal-like cells (Derivation of renal-...)

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

    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

        SABiosciences Custom PCR Arrays for KIRREL
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    In Situ
    Assay Products:     
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    Orthologs
    for KIRREL gene

    (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 KIRREL gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves KIRREL1 kin of IRRE like (Drosophila) 79.3(n)
    82.85(a)    		   425302  XM_423078.3  XP_423078.3 
    lizard
    (Anolis carolinensis)    		 Reptilia KIRREL6
    		 --
    		 78(a)
    		 1 ↔ 1
    		 GL344594.1(14413-27051)
    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 64.5(n)
    66.26(a)    		   405804  NM_212868.1  NP_998033.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta rst1 roughest 44.75(n)
    33.27(a)    		   31290  NM_080319.3  NP_525058.2 
    worm
    (Caenorhabditis elegans)    		 Secernentea syg-16
    		 SYnaptoGenesis abnormal family member (syg-1)
    		 19(a)
    		 possible ortholog
    		 X(2509600-2515316)


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

    Paralogs
    for KIRREL gene

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



    Genomic Variants
    for KIRREL gene

    (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

    10/1749 NCBI SNPs in KIRREL are shown (see all 1749)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs75277461,2
    		C,F,A,H,--129351432(+) ATCCTG/AGGTGC 1 -- us2k15Minor allele frequency- A:0.07NS EA WA 530
    rs75508261,2
    		C,F,A,H,--129351440(+) tgcacC/Tgggaa 1 -- us2k15Minor allele frequency- T:0.07NS EA WA 536
    rs75305911,2
    		C,F,A,--129352020(+) gcctgG/Cttttg 1 -- us2k12Minor allele frequency- C:0.50WA 4
    rs121355081,2
    		H--129352344(+) gctGAG/AACACA 1 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs118060831,2
    		H--129352430(+) GATCCA/CACTGT 1 -- us2k14Minor allele frequency- C:0.00NS EA 420
    rs755151171,2
    		F,--129353474(+) AATGGG/AAGCAA 1 -- int11Minor allele frequency- A:0.02NA 120
    rs730206101,2
    		C,--129353503(+) GGCAAG/ACAGAA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1124168831,2
    		--129353861(+) TTGACT/CAAGTC 1 -- int12Minor allele frequency- C:0.02CSA WA 120
    rs800224641,2
    		F--129354509(+) CACAGC/TTAAGA 1 -- int11Minor allele frequency- T:0.50NA 4
    rs794092191,2
    		--129354581(+) CCATGC/GTCCAA 1 -- int11Minor allele frequency- G:0.01WA 118

    HapMap Linkage Disequilibrium report for KIRREL (157963063 - 158070052 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for KIRREL
         1 Indel: 43044
         1 Inversion: 59662

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    Disorders / Diseases
    for KIRREL gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    KIRREL for disorders           About GeneDecksing

    OMIM gene information: 607428    OMIM disorders: --

    7 diseases for KIRREL:    About MalaCards
    steroid-resistant nephrotic syndrome    nephrotic syndrome    familial nephrotic syndrome    proteinuria
    nephropathy    pancreatitis    neuronitis

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

    3 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: KIRREL (2 documents)

    Export disorders for KIRREL gene to outside databases

    Publications
    for KIRREL gene

    (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 KIRREL gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with KIRREL)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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. (2004)
    4. NEPH1 defines a novel family of podocin interacting proteins. (PubMed id 12424224)1, 3 Sellin L.... Walz G. (2003)
    5. 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. (2001)
    6. Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1. (PubMed id 12660326)1, 9 Gerke P....Walz G. (2003)
    7. Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy. (PubMed id 17968527)1, 9 Ihalmo P....Groop P.H. (2008)
    8. Solution structure analysis of cytoplasmic domain of p odocyte protein Neph1 using small/wide angle x-ray scattering (SWAXS). (PubMed id 22262837)1 Mallik L....Nihalani D. (2012)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)

    External Searches for KIRREL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing KIRREL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55243 HGNC: 15734 AceView: KIRREL Ensembl:ENSG00000183853 euGenes: HUgn55243
    ECgene: KIRREL H-InvDB: KIRREL

    Other Databases showing KIRREL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KIRREL gene

    (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 KIRREL Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for KIRREL gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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