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Aliases for GRN Gene

Aliases for GRN Gene

  • Granulin Precursor 2 3 5
  • Proepithelin 3 4
  • Progranulin 2 3
  • PEPI 3 4
  • PC Cell-Derived Growth Factor 3
  • Granulin-Epithelin 3
  • Acrogranin 3
  • Granulins 3
  • CLN11 3
  • PCDGF 3
  • GP88 3
  • PGRN 3
  • Gep 3

External Ids for GRN Gene

Previous GeneCards Identifiers for GRN Gene

  • GC17P042164
  • GC17P044599
  • GC17P042433
  • GC17P042897
  • GC17P039778
  • GC17P038189
  • GC17P042422

Summaries for GRN Gene

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 Precursor) is a Protein Coding gene. Diseases associated with GRN include Ceroid Lipofuscinosis, Neuronal, 11 and Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions. Among its related pathways are Innate Immune System and Integrated Breast Cancer Pathway. GO annotations related to this gene include poly(A) RNA binding and growth factor activity.

UniProtKB/Swiss-Prot for GRN Gene

  • Granulins have possible cytokine-like activity. They may play a role in inflammation, wound repair, and tissue remodeling.

  • 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 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRN Gene

Genomics for GRN Gene

Regulatory Elements for GRN Gene

Enhancers for GRN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G044337 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.9 -5.4 -5374 3.9 HDGF PKNOX1 CEBPG ZIC2 TCF12 ZNF121 GATA3 ZNF366 POLR2A RFX1 SLC25A39 RUNDC3A-AS1 GRN TMUB2 ENSG00000267211
GH17G044344 1.8 FANTOM5 ENCODE dbSUPER 9.5 +2.1 2072 5.5 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF416 ZNF263 DHX8 SLC25A39 MEOX1 EFTUD2 RUNDC3A-AS1 ASB16-AS1 UBTF RUNDC3A ENSG00000221496 RNU6-453P
GH17G044554 1.7 FANTOM5 ENCODE dbSUPER 8.7 +213.1 213149 6.5 HDGF PKNOX1 ARNT WRNIP1 SIN3A FEZF1 ZBTB7B ZNF766 FOS KLF13 DBF4B GRN GJC1 FZD2 TMUB2 GC17M044558
GH17G044197 1.8 FANTOM5 ENCODE dbSUPER 8.1 -145.7 -145712 4.3 CREB3L1 MLX AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 SP3 ASB16-AS1 DHX8 TMUB2 GRN LINC00854 NAGS DBF4B ATXN7L3 TMEM101 HDAC5
GH17G044541 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 5.1 +200.1 200129 8.1 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A SLC30A9 ZNF766 ZNF143 FOS GPATCH8 MEIOC FAM171A2 SLC25A39 TMUB2 FZD2 GRN ADAM11 TMEM101 GJC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GRN on UCSC Golden Path with GeneCards custom track

Promoters for GRN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000094756 314 1201 PKNOX1 MLX ARNT WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for GRN Gene

Chromosome:
17
Start:
44,345,086 bp from pter
End:
44,353,106 bp from pter
Size:
8,021 bases
Orientation:
Plus strand

Genomic View for GRN Gene

Genes around GRN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRN Gene

Proteins for GRN Gene

  • Protein details for GRN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28799-GRN_HUMAN
    Recommended name:
    Granulins
    Protein Accession:
    P28799
    Secondary Accessions:
    • D3DX55
    • P23781
    • P23782
    • P23783
    • P23784
    • Q53HQ8
    • Q53Y88
    • Q540U8
    • Q9BWE7
    • Q9H8S1
    • Q9UCH0

    Protein attributes for GRN Gene

    Size:
    593 amino acids
    Molecular mass:
    63544 Da
    Quaternary structure:
    • Acrogranin/Progranulin is secreted as a homodimer.

    Three dimensional structures from OCA and Proteopedia for GRN Gene

    Alternative splice isoforms for GRN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRN Gene

Post-translational modifications for GRN Gene

  • Granulins are disulfide bridged.
  • Glycosylation at posLast=118118, isoforms=2182, posLast=236236, isoforms=2, 3265, isoforms=2, 3368, and posLast=530530
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GRN (Progranulin/PGRN)

Protein Products

Assay Products

No data available for DME Specific Peptides for GRN Gene

Domains & Families for GRN Gene

Protein Domains for GRN Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P28799

UniProtKB/Swiss-Prot:

GRN_HUMAN :
  • Belongs to the granulin family.
Family:
  • Belongs to the granulin family.
genes like me logo Genes that share domains with GRN: view

No data available for Gene Families for GRN Gene

Function for GRN Gene

Molecular function for GRN Gene

GENATLAS Biochemistry:
granulin,cysteine rich protein with growth modulatory activity,expressed by many epithelial cells,overexpressed in adrenal carcinoma
UniProtKB/Swiss-Prot Function:
Granulins have possible cytokine-like activity. They may play a role in inflammation, wound repair, and tissue remodeling.
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for GRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0005125 cytokine activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0008083 growth factor activity TAS 1542665
genes like me logo Genes that share ontologies with GRN: view
genes like me logo Genes that share phenotypes with GRN: view

Human Phenotype Ontology for GRN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRN Gene

MGI Knock Outs for GRN:

Animal Model Products

  • Taconic Biosciences Mouse Models for GRN

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GRN

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GRN Gene

Localization for GRN Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRN Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRN gene
Compartment Confidence
extracellular 5
lysosome 5
endosome 5
endoplasmic reticulum 4
nucleus 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005764 lysosome IDA --
GO:0005768 endosome IDA --
GO:0005783 endoplasmic reticulum IDA --
genes like me logo Genes that share ontologies with GRN: view

Pathways & Interactions for GRN Gene

genes like me logo Genes that share pathways with GRN: view

Pathways by source for GRN Gene

1 BioSystems pathway for GRN Gene

SIGNOR curated interactions for GRN Gene

Inactivates:

Gene Ontology (GO) - Biological Process for GRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 1542665
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with GRN: view

Drugs & Compounds for GRN Gene

(5) Drugs for GRN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for GRN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GRN: view

Transcripts for GRN Gene

Unigene Clusters for GRN Gene

Granulin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GRN

Alternative Splicing Database (ASD) splice patterns (SP) for GRN Gene

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: - - - -
SP6: - - - - - - - - - - - - -
SP7: - - -
SP8: - -
SP9: -
SP10: - -
SP11:
SP12:
SP13:

ExUns: 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15
SP1:
SP2: - - - -
SP3:
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for GRN Gene

GeneLoc Exon Structure for
GRN
ECgene alternative splicing isoforms for
GRN

Expression for GRN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GRN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRN Gene

This gene is overexpressed in Whole Blood (x7.1).

Protein differential expression in normal tissues from HIPED for GRN Gene

This gene is overexpressed in Amniocyte (26.4), Urine (17.5), and Monocytes (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GRN Gene



NURSA nuclear receptor signaling pathways regulating expression of GRN Gene:

GRN

SOURCE GeneReport for Unigene cluster for GRN Gene:

Hs.514220

mRNA Expression by UniProt/SwissProt for GRN Gene:

P28799-GRN_HUMAN
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.

Evidence on tissue expression from TISSUES for GRN Gene

  • Blood(5)
  • Kidney(5)
  • Lung(5)
  • Nervous system(5)
  • Intestine(4.8)
  • Liver(4.8)
  • Spleen(4.8)
  • Skin(4.7)
  • Bone marrow(4.5)
  • Heart(4)
  • Pancreas(3.9)
  • Stomach(3.8)
  • Thyroid gland(3.4)
  • Muscle(2.8)
  • Eye(2.4)
  • Gall bladder(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GRN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • pharynx
  • skull
  • tongue
Thorax:
  • esophagus
Abdomen:
  • stomach
Pelvis:
  • prostate
  • urinary bladder
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with GRN: view

Primer Products

No data available for Protein tissue co-expression partners for GRN Gene

Orthologs for GRN Gene

This gene was present in the common ancestor of animals.

Orthologs for GRN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRN 34 35
  • 99.58 (n)
cow
(Bos Taurus)
Mammalia GRN 34 35
  • 82.57 (n)
rat
(Rattus norvegicus)
Mammalia Grn 34
  • 79.46 (n)
mouse
(Mus musculus)
Mammalia Grn 34 16 35
  • 78.72 (n)
dog
(Canis familiaris)
Mammalia GRN 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRN 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRN 35
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRN 35
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grn 34
  • 53.43 (n)
Str.4560 34
African clawed frog
(Xenopus laevis)
Amphibia grn-prov 34
zebrafish
(Danio rerio)
Actinopterygii grna 34 35
  • 48.96 (n)
grnb 35
  • 31 (a)
OneToMany
wufj14b08 34
worm
(Caenorhabditis elegans)
Secernentea T22H2.6b 36
  • 54 (a)
T22H2.6a 36
  • 39 (a)
pgrn-1 35
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7332 35
  • 30 (a)
OneToOne
Species where no ortholog for GRN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GRN Gene

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

Paralogs for GRN Gene

No data available for Paralogs for GRN Gene

Variants for GRN Gene

Sequence variations from dbSNP and Humsavar for GRN Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs63751243 Pathogenic, Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485] 44,349,190(+) GGTGG(A/C/T)CTTAA reference, missense
rs193026789 Pathogenic 44,352,047(+) TGCTG(A/C/T)CCCCA reference, synonymous-codon
rs606231220 Pathogenic 44,349,260(+) GCTGC(-/CCTG)GGACC reference, frameshift-variant
rs606231221 Pathogenic 44,351,164(+) CACAG(A/G)TACCA splice-donor-variant
rs63749801 Pathogenic 44,350,266(+) ATAGT(-/CAGT)TCGAA reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for GRN Gene

Variant ID Type Subtype PubMed ID
dgv5606n54 CNV loss 21841781
dgv5607n54 CNV loss 21841781
nsv1146669 OTHER inversion 26484159
nsv475965 CNV novel sequence insertion 20440878

Variation tolerance for GRN Gene

Residual Variation Intolerance Score: 18.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.37; 42.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRN Gene

Human Gene Mutation Database (HGMD)
GRN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRN Gene

Disorders for GRN Gene

MalaCards: The human disease database

(47) MalaCards diseases for GRN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 11
  • neuronal ceroid lipofuscinosis 11
frontotemporal lobar degeneration with ubiquitin-positive inclusions
  • aphasia, primary progressive
dementia, frontotemporal
  • dementia, frontotemporal, with or without parkinsonism
grn-related frontotemporal dementia
  • frontotemporal lobar degeneration with tdp43 inclusions, grn-related
neuronal ceroid-lipofuscinoses
  • neuronal ceroid-lipofuscinosis, infantile
- elite association - COSMIC cancer census association via MalaCards
Search GRN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GRN_HUMAN
  • 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. {ECO:0000269 PubMed:22608501}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:16862116, ECO:0000269 PubMed:16983685, ECO:0000269 PubMed:18183624}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GRN

Genetic Association Database (GAD)
GRN
Human Genome Epidemiology (HuGE) Navigator
GRN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRN
genes like me logo Genes that share disorders with GRN: view

No data available for Genatlas for GRN Gene

Publications for GRN Gene

  1. Structure and chromosomal location of the human granulin gene. (PMID: 1417868) Bhandari V. … Bateman A. (Biochem. Biophys. Res. Commun. 1992) 2 3 4 22 64
  2. Brain progranulin expression in GRN-associated frontotemporal lobar degeneration. (PMID: 19649643) Chen-Plotkin A.S. … Lee V.M. (Acta Neuropathol. 2010) 3 22 46 64
  3. GRN variability contributes to sporadic frontotemporal lobar degeneration. (PMID: 20061636) Galimberti D. … Scarpini E. (J. Alzheimers Dis. 2010) 3 22 46 64
  4. Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly. (PMID: 20197700) Dickson D.W. … Rademakers R. (Neurodegener Dis 2010) 3 22 46 64
  5. An association study between granulin gene polymorphisms and Alzheimer's disease in Finnish population. (PMID: 19016491) Viswanathan J. … Hiltunen M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 22 46 64

Products for GRN Gene

Sources for GRN Gene

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