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GRN Gene

protein-coding   GIFtS: 69
GCID: GC17P042422

Granulin

  See GRN-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
granulin1 2     PGRN2
progranulin1 2     acrogranin2
PEPI2 3     granulin-epithelin2
CLN112 5     granulins2
GEP2     PC Cell-Derived Growth Factor2
GP882     proepithelin2
PCDGF2     Proepithelin3

External Ids:    HGNC: 46011   Entrez Gene: 28962   Ensembl: ENSG000000305827   OMIM: 1389455   UniProtKB: P287993   

Export aliases for GRN gene to outside databases

Previous GC identifers: GC17P042164 GC17P044599 GC17P042433 GC17P042897 GC17P039778 GC17P038189


(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 GRN Gene:
Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with
7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein,
progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide
produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller
cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with
granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However,
different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell
growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. (provided
by RefSeq, Jul 2008)

GeneCards Summary for GRN Gene:
GRN (granulin) is a protein-coding gene. Diseases associated with GRN include amusia, and ceroid lipofuscinosis, neuronal, 11. GO annotations related to this gene include growth factor activity and cytokine activity.

UniProtKB/Swiss-Prot: GRN_HUMAN, P28799
Function: Granulins have possible cytokine-like activity. They may play a role in inflammation, wound repair, and
tissue remodeling
Function: Granulin-4 promotes proliferation of the epithelial cell line A431 in culture while granulin-3 acts as
an antagonist to granulin-4, inhibiting the growth

Gene Wiki entry for GRN (Granulin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GRN gene promoter:
         GR   C/EBPbeta   GR-beta   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGRN promoter sequence
   Search Chromatin IP Primers for GRN

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


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

Entrez Gene cytogenetic band: 17q21.32   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.32

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P042422:  view genomic region     (about GC identifiers)

Start:
42,422,491 bp from pter      End:
42,430,470 bp from pter
Size:
7,980 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GRN_HUMAN, P28799 (See protein sequence)
Recommended Name: Granulins precursor  
Size: 593 amino acids; 63544 Da
Subunit: Acrogranin/Progranulin is secreted as a homodimer
5 PDB 3D structures from and Proteopedia for GRN:
1G26 (3D)        2JYE (3D)        2JYT (3D)        2JYU (3D)        2JYV (3D)    
Secondary accessions: D3DX55 P23781 P23782 P23783 P23784 Q53HQ8 Q53Y88 Q540U8 Q9BWE7 Q9H8S1
Q9UCH0
Alternative splicing: 3 isoforms:  P28799-1   P28799-2   P28799-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GRN: NX_P28799

Explore proteomics data for GRN at MOPED

Post-translational modifications: 

  • Granulins are disulfide bridged1
  • Glycosylation2 at Asn118, Thr182, Asn236, Asn265, Asn368, Asn530
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_002078.1  
    ENSEMBL proteins: 
     ENSP00000466956   ENSP00000466271   ENSP00000465518   ENSP00000053867   ENSP00000465375  
     ENSP00000466405   ENSP00000467745   ENSP00000467022   ENSP00000467870   ENSP00000467431  
     ENSP00000466611   ENSP00000467616   ENSP00000468318   ENSP00000465673   ENSP00000467837  

    GRN Human Recombinant Protein Products:

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    OriGene MassSpec for GRN
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    Novus Biologicals GRN Proteins
    Novus Biologicals GRN Lysates
    Sino Biological Recombinant Protein for GRN
    Sino Biological Cell Lysate for GRN
    ProSpec Recombinant Protein for GRN
    Cloud-Clone Corp. Proteins for GRN

     
    Search eBioscience for Proteins for GRN 

     
    antibodies-online proteins for GRN (53 products) 

     
    antibodies-online peptides for GRN

    GRN Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    antibodies-online antibodies for GRN (67 products) 

    GRN Assay Products:

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    Cloud-Clone Corp. ELISAs for GRN
    Cloud-Clone Corp. CLIAs for GRN
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    antibodies-online kits for GRN (52 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000118 Granulin
     IPR006150 Cys_repeat_1

    Graphical View of Domain Structure for InterPro Entry P28799

    ProtoNet protein and cluster: P28799

    1 Blocks protein domain: IPB000118 Granulin

    UniProtKB/Swiss-Prot: GRN_HUMAN, P28799
    Similarity: Belongs to the granulin family


    Find genes that share domains with GRN           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: GRN_HUMAN, P28799
    Function: Granulins have possible cytokine-like activity. They may play a role in inflammation, wound repair, and
    tissue remodeling
    Function: Granulin-4 promotes proliferation of the epithelial cell line A431 in culture while granulin-3 acts as
    an antagonist to granulin-4, inhibiting the growth

         Genatlas biochemistry entry for GRN:
    granulin,cysteine rich protein with growth modulatory activity,expressed by many epithelial cells,overexpressed in
    adrenal carcinoma

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0005515protein binding IPI--
    GO:0008083growth factor activity TAS1542665
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with GRN           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Grn):
     behavior/neurological  cellular  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  nervous system  no phenotypic analysis  pigmentation 
     reproductive system 

    Find genes that share phenotypes with GRN           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GRN: Grntm1.1Geno Grntm1Mni Grntm1.1Aidi Grntm1.1Far

       genOway: Develop your customized and physiologically relevant rodent model for GRN

    miRNA
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    miRTarBase miRNAs that target GRN:
    hsa-mir-659-3p (MIRT000034), hsa-mir-9-5p (MIRT021404), hsa-mir-29b-3p (MIRT005486), hsa-mir-107 (MIRT004761)

    Block miRNA regulation of human, mouse, rat GRN using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GRN:
    hsa-miR-588
    SwitchGear 3'UTR luciferase reporter plasmidGRN 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GRN
    Predesigned siRNA for gene silencing in human, mouse, rat GRN

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GRN

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRN


    (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
    GRN_HUMAN, P28799: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endosome2
    mitochondrion2
    nucleus2
    cytoskeleton1
    lysosome1
    vacuole1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005739mitochondrion IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    Find genes that share ontologies with GRN           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GRN About    
    See pathways by source

    SuperPathContained pathways About
    1Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway


    1 BioSystems Pathway for GRN
        Integrated Breast Cancer Pathway



        Pathway & Disease-focused RT2 Profiler PCR Arrays including GRN: 
              Angiogenic Growth Factors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GRN

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

    Selected Interacting proteins for GRN (P287991, 2, 3 ENSP000000538674) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPG2P981602, 3, ENSP000003638274MINT-14457 MINT-14455 MINT-14456 I2D: score=3 STRING: ENSP00000363827
    ATN1P542592, 3, ENSP000003490764MINT-2859319 MINT-2859338 I2D: score=3 STRING: ENSP00000349076
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2859357 I2D: score=3 STRING: ENSP00000344782
    SMAD9O151982, 3MINT-62094 I2D: score=3 
    CACNA1AO005551, 3EBI-747754,EBI-766279 I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001835blastocyst hatching IEA--
    GO:0007165signal transduction NAS1542665
    GO:0007566embryo implantation IEA--
    GO:0008219cell death IEA--
    GO:0050679positive regulation of epithelial cell proliferation IEA--

    Find genes that share ontologies with GRN           About GenesLikeMe



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

    Browse Tocris compounds for GRN

    7 Novoseek inferred chemical compound relationships for GRN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 17.5 7 1452336 (1), 20028451 (1), 12931033 (1), 9771457 (1) (see all 6)
    tamoxifen 3.71 3 14996734 (1), 15117809 (1), 11134521 (1)
    estradiol 0.791 5 10066447 (2), 18195084 (1)
    glucose 0 5 19056610 (1)
    agar 0 2 16533762 (2)
    estrogen 0 23 17686309 (6), 11134521 (3), 10760271 (1)
    vegf 0 19 18706200 (4), 16536983 (3), 15117809 (1)



    Find genes that share compounds with GRN           About GenesLikeMe



    (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 GRN gene (2 alternative transcripts): 
    NM_002087.2  NM_001012479.1  

    Unigene Cluster for GRN:

    Granulin
    Hs.514220  [show with all ESTs]
    Unigene Representative Sequence: NM_002087
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000588170 ENST00000589536 ENST00000587109 ENST00000587518 ENST00000053867(uc002igp.1)
    ENST00000588143 ENST00000593167 ENST00000585512 ENST00000592323 ENST00000591740
    ENST00000592783 ENST00000587387 ENST00000588237 ENST00000589265 ENST00000587958
    ENST00000586782 ENST00000590984 ENST00000586443
    miRNA
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    Block miRNA regulation of human, mouse, rat GRN using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GRN:
    hsa-miR-588
    SwitchGear 3'UTR luciferase reporter plasmidGRN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GRN
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GRN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GRN
      QuantiTect SYBR Green Assays in human, mouse, rat GRN
      QuantiFast Probe-based Assays in human, mouse, rat GRN

    Additional mRNA sequence: 

    AF055008.1 AK000607.1 AK023348.1 AK222522.1 AK296090.1 AK303830.1 AY124489.1 BC000324.2 
    BC010577.2 BC127696.1 BT006844.1 M75161.1 X62320.1 

    Selected DOTS entries (see all 97):

    DT.92465375  DT.119530  DT.91964486  DT.95152910  DT.100765373  DT.100847292  DT.92465366  DT.120984456 
    DT.95307573  DT.92034635  DT.120984662  DT.100697319  DT.120984626  DT.120984469  DT.120984517  DT.120984399 
    DT.120984525  DT.100697317  DT.120984378  DT.91818871  DT.120984683  DT.97866450  DT.91956205  DT.95252781 

    Selected AceView cDNA sequences (see all 1630):

    BX382776 AL541798 BQ219629 BM767598 BG830375 BQ711432 AU122545 CB130202 
    BX343307 CB128623 BQ676551 AU124912 BQ058416 AU139905 BQ682607 AW403874 
    AA304036 CF131560 CB155480 BX357842 BM468251 BM747329 AU122785 BQ052452 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GRN (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^
    SP1:                          -     -                                   -     -     -                                               -                       -   
    SP2:                          -     -                                   -     -     -                                               -                       -   
    SP3:                                                                    -     -     -                             -     -     -     -     -                 -   
    SP4:                          -     -           -     -     -     -     -     -     -     -     -     -     -     -     -           -                       -   
    SP5:                                -                                   -     -     -                                                                           

    ExUns: 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15
    SP1:                                                      
    SP2:                    -     -     -     -               
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for GRN

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


    GRN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Trophoblast Cells Trophoblast
             Trophoblast
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Bone (Muscoskeletal System)
             Bone Marrow
    GRN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GRN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.514220

    UniProtKB/Swiss-Prot: GRN_HUMAN, P28799
    Tissue specificity: In myelogenous leukemic cell lines of promonocytic, promyelocytic, and proerythroid lineage,
    in fibroblasts, and very strongly in epithelial cell lines. Present in inflammatory cells and bone marrow.
    Highest levels in kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GRN: 
              Angiogenic Growth Factors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRN

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for GRN gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Grn1 , 5 granulin1, 5 78.72(n)1
    75.72(a)1
      11 (66.29 cM)5
    148241  NM_008175.41  NP_032201.21 
     1024303155 
    lizard
    (Anolis carolinensis)
    Reptilia GRN6
    granulin
    46(a)
    1 ↔ 1
    6(64130924-64157962)
    African clawed frog
    (Xenopus laevis)
    Amphibia grn-prov2 granulin 75.93(n)    BC048224.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj14b082 Danio rerio progranulin-b mRNA, complete cds 77.33(n)    AY289606.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T22H2.6b3   -- 54(a)
    (best of 2)
      I(11709685-11711597)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GRN (see all 388)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0444514
    Ubiquitin-positive frontotemporal dementia (UP-FTD)4--see VAR_0444512 A D mis40--------
    rs637510061,2
    Cpathogenic142426534(+) GACCAC/TGTGGA 2 T M mis10--------
    rs637503311,2
    Cpathogenic142426535(+) ACCATA/GTGGAC 2 I M mis10--------
    rs637512431,2
    Cpathogenic142426558(+) GGTGGA/CCTTAA 2 D A mis10--------
    rs637500771,2
    Cpathogenic142427619(+) CCATCC/TAGTGC 2 Q * stg10--------
    rs637512941,2
    Cpathogenic142429772(+) AGGCTC/TGATCC 2 R * stg10--------
    rs637507231,2,,4
    C,Funtested142426587(+) GAACGC/TGGTGC 2 R W mis12Minor allele frequency- T:0.02WA NA 4666
    rs637507421,2
    C,Funtested142426631(+) CTGGAC/TCCCGG 2 D syn12Minor allele frequency- T:0.00NA EU 5809
    rs637500431,2
    Cuntested142427605(+) CAACTC/ACGTGG 2 /Y /S mis11Minor allele frequency- A:0.00EU 1323
    rs256461,2
    C,F,Huntested142427630(+) CCTGAT/CAGTCA 2 /D syn121Minor allele frequency- C:0.09MN NS EA NA EU 9381

    HapMap Linkage Disequilibrium report for GRN (42422491 - 42430470 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GRN:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3176n71CNV Loss21882294
    dgv3175n71CNV Loss21882294
    nsv908270CNV Loss21882294

    Human Gene Mutation Database (HGMD): GRN
    Locus Specific Mutation Databases (LSDB): GRN

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

    (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.)
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    OMIM gene information: 138945   
    OMIM disorders: 607485  614706  
    UniProtKB/Swiss-Prot: GRN_HUMAN, P28799
  • Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485]: Frontotemporal dementia (FTD) is the
    second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant
    neurodegenerative disease. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Ceroid lipofuscinosis, neuronal, 11 (CLN11) [MIM:614706]: A form of neuronal ceroid lipofuscinosis
    characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and
    cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive
    neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent
    liposomal material. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for GRN:    
    About MalaCards
    amusia    ceroid lipofuscinosis, neuronal, 11    grn-related frontotemporal dementia    frontotemporal lobar degeneration with ubiquitin-positive inclusions
    semantic dementia    primary progressive aphasia    impulse control disorder    aphasia
    dementia, familial, nonspecific    perry syndrome    adrenal carcinoma    frontotemporal dementia
    neuronal ceroid-lipofuscinoses    dementia    amyotrophic lateral sclerosis

    6 diseases from the University of Copenhagen DISEASES database for GRN:
    Frontotemporal dementia     Aphasia     Neurodegenerative disease     Progressive supranuclear palsy
    Apraxia     Amusia

    Find genes that share disorders with GRN           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GRN gene (see all 31)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    frontotemporal dementia 96 120 17698705 (5), 20087814 (4), 17984093 (2), 18543312 (2) (see all 71)
    aphasia primary progressive 88.3 2 17210807 (1), 20479359 (1)
    semantic dementia 82.9 1 20400120 (1)
    motor neuron disease 78.6 6 18183624 (1), 18802798 (1), 17360763 (1), 17969346 (1) (see all 6)
    progressive nonfluent aphasia 74.2 1 20400120 (1)
    tauopathies 73.8 2 18802798 (1), 18596549 (1)
    neuropathology 68.7 4 20026663 (1), 17458552 (1), 18715271 (1), 18723524 (1)
    parkinsonism 68 4 17030535 (1), 17969346 (1), 19938685 (1), 17659186 (1)
    dementia 67.3 15 18955727 (5), 17210804 (1), 17969346 (1), 17371905 (1) (see all 9)
    aphasia 65.3 1 20400120 (1)

    GeneTests: GRN
    GeneReviews: GRN
    Genetic Association Database (GAD): GRN
    Human Genome Epidemiology (HuGE) Navigator: GRN (47 documents)

    Export disorders for GRN 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 GRN gene, integrated from 10 sources (see all 336):
    (articles sorted by number of sources associating them with GRN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and chromosomal location of the human granulin gene. (PubMed id 1417868)1, 2, 3, 9 Bhandari V. and Bateman A. (Biochem. Biophys. Res. Commun. 1992)
    2. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. (PubMed id 19158106)1, 4, 9 Finch N....Rademakers R. (Brain 2009)
    3. Brain progranulin expression in GRN-associated frontotemporal lobar degeneration. (PubMed id 19649643)1, 4, 9 Chen-Plotkin A.S....Lee V.M. (Acta Neuropathol. 2010)
    4. Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. (PubMed id 18723524)1, 4, 9 Rademakers R....Dickson D.W. (Hum. Mol. Genet. 2008)
    5. Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease. (PubMed id 19625741)1, 4, 9 Fenoglio C....Scarpini E. (J. Alzheimers Dis. 2009)
    6. Granulins, a novel class of peptide from leukocytes. (PubMed id 2268320)1, 2, 9 Bateman A.... Solomon S. (Biochem. Biophys. Res. Commun. 1990)
    7. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C--&gt;T (Arg493X) mutation: an international initiative. (PubMed id 17826340)1, 4, 9 Rademakers R....Hutton M. (Lancet Neurol 2007)
    8. Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly. (PubMed id 20197700)1, 4, 9 Dickson D.W....Rademakers R. (Neurodegener Dis 2010)
    9. Structure dissection of human progranulin identifies well-folded granulin/epithelin modules with unique functional activities. (PubMed id 18359860)1, 2, 9 Tolkatchev D....Ni F. (Protein Sci. 2008)
    10. GRN variability contributes to sporadic frontotemporal lobar degeneration. (PubMed id 20061636)1, 4, 9 Galimberti D....Scarpini E. (J. Alzheimers Dis. 2010)

    (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: 2896 HGNC: 4601 AceView: GRN Ensembl:ENSG00000030582 euGenes: HUgn2896
    ECgene: GRN H-InvDB: GRN

    (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 GRN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GRN Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GRN[genesymbol]

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

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



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