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 ... See more...

Aliases for GRN Gene

Aliases for GRN Gene

  • Granulin Precursor 2 3 4 5
  • Progranulin 2 3 4
  • PC Cell-Derived Growth Factor 3 4
  • Glycoprotein Of 88 Kda 3 4
  • Glycoprotein 88 3 4
  • Proepithelin 3 4
  • Acrogranin 3 4
  • PCDGF 3 4
  • GP88 3 4
  • PEPI 3 4
  • PGRN 3 4
  • Epithelin Precursor 4
  • Granulin-Epithelin 3
  • Epithelin 3
  • Granulins 3
  • CLN11 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 Tdp43 Inclusions, Grn-Related. Among its related pathways are Innate Immune System and Integrated Breast Cancer Pathway. Gene Ontology (GO) annotations related to this gene include growth factor activity.

UniProtKB/Swiss-Prot Summary for GRN Gene

  • Secreted proteins that act as key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation (PubMed:28541286, PubMed:28073925, PubMed:18378771, PubMed:28453791, PubMed:12526812). Functions as regulator of proteins trafficking to lysosome and activity of lysosomal enzymes (PubMed:28453791, PubMed:28541286). Facilitates also the acidification of lysosomes, causing degradation of mature CTSD by CTSB (PubMed:28073925). In addition, functions as wound-related growth factor that acts directly on dermal fibroblasts and endothelial cells to promote division, migration and the formation of capillary-like tubule structure (By similarity). Also promotes epithelial cell proliferation by blocking TNF-mediated neutrophil activation preventing release of oxidants and proteases (PubMed:12526812). Moreover, modulates inflammation in neuron by preserving neuron survival, axonal outgrowth and neuronal integrity (PubMed:18378771).
  • Granulin-4: Promotes proliferation of the epithelial cell line A431 in culture.
  • Granulin-3: Inhibits epithelial cell proliferation and induces epithelial cells to secrete IL-8.
  • Granulin-7: Stabilizes CTSD through interaction with CTSD leading to maintain its aspartic-type peptidase activity.

Gene Wiki entry for GRN Gene

Additional gene information for GRN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRN Gene

Genomics for GRN Gene

GeneHancer (GH) Regulatory Elements for GRN Gene

Promoters and enhancers for GRN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GRN gene promoter:
  • C/EBPbeta
  • GR
  • GR-alpha
  • GR-beta

Genomic Locations for GRN Gene

Genomic Locations for GRN Gene
chr17:44,345,086-44,353,106
(GRCh38/hg38)
Size:
8,021 bases
Orientation:
Plus strand
chr17:42,422,491-42,430,470
(GRCh37/hg19)
Size:
7,980 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:
    Progranulin
    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:
    • Progranulin is secreted as a homodimer (PubMed:23364791). Interacts with SLPI; interaction protects progranulin from proteolysis (PubMed:12526812). Interacts (via region corresponding to granulin-7 peptide) with CTSD; stabilizes CTSD and increases its proteolytic activity (PubMed:28453791). Interacts (via region corresponding to granulin-7 peptide) with SORT1; this interaction mediates endocytosis and lysosome delivery of progranulin; interaction occurs at the neuronal cell surface in a stressed nervous system (PubMed:21092856). Interacts with PSAP; facilitates lysosomal delivery of progranulin from the extracellular space and the biosynthetic pathway (PubMed:26370502). Forms a complex with PSAP and M6PR; PSAP bridges the binding between progranulin and M6PR (PubMed:26370502). Forms a complex with PSAP and SORT1; progranulin bridges the interaction between PSAP and SORT1; facilitates lysosomal targeting of PSAP via SORT1; interaction enhances PSAP uptake in primary cortical neurons (PubMed:28541286). Interacts (via regions corresponding to granulin-2 and granulin-7 peptides) with GBA; this interaction prevents aggregation of GBA-SCARB2 complex via interaction with HSPA1A upon stress (PubMed:27789271). Interacts (via region corresponding to granulin-7 peptide) with HSPA1A; mediates recruitment of HSPA1A to GBA and prevents GBA aggregation in response to stress (PubMed:27789271).

    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

  • Cleaved by ELANE; proteolysis is blocked by SLPI and is concentration- and time-dependent and induces CXCL8/IL-8 production; granulin-3 and granulin-4 are resistant to ELANE (PubMed:12526812, PubMed:28743268). Cleaved by CTSL in lysosome thus regulating the maturation and turnover of progranulin within the lysosome (PubMed:28743268).
  • Glycosylation at Asn265, Asn118, Thr182, Asn368, Asn236, and Asn530
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

No data available for DME Specific Peptides for GRN Gene

Domains & Families for GRN Gene

Gene Families for GRN Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for GRN Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GRN Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53692, moderately similar to Granulins (B4E1G5_HUMAN)
  • Proepithelin (GRN_HUMAN)
  • cDNA FLJ13286 fis, clone OVARC1001154, highly similar to Homo sapiens clone 24720 epithelin 1 and 2 mRNA (Q9H8S1_HUMAN)

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

Function for GRN Gene

Molecular function for GRN Gene

UniProtKB/Swiss-Prot Function:
Secreted proteins that act as key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation (PubMed:28541286, PubMed:28073925, PubMed:18378771, PubMed:28453791, PubMed:12526812). Functions as regulator of proteins trafficking to lysosome and activity of lysosomal enzymes (PubMed:28453791, PubMed:28541286). Facilitates also the acidification of lysosomes, causing degradation of mature CTSD by CTSB (PubMed:28073925). In addition, functions as wound-related growth factor that acts directly on dermal fibroblasts and endothelial cells to promote division, migration and the formation of capillary-like tubule structure (By similarity). Also promotes epithelial cell proliferation by blocking TNF-mediated neutrophil activation preventing release of oxidants and proteases (PubMed:12526812). Moreover, modulates inflammation in neuron by preserving neuron survival, axonal outgrowth and neuronal integrity (PubMed:18378771).
UniProtKB/Swiss-Prot Function:
Granulin-4: Promotes proliferation of the epithelial cell line A431 in culture.
UniProtKB/Swiss-Prot Function:
Granulin-3: Inhibits epithelial cell proliferation and induces epithelial cells to secrete IL-8.
UniProtKB/Swiss-Prot Function:
Granulin-7: Stabilizes CTSD through interaction with CTSD leading to maintain its aspartic-type peptidase activity.
UniProtKB/Swiss-Prot Induction:
Increased in response to lysosome alkalization.
GENATLAS Biochemistry:
granulin,cysteine rich protein with growth modulatory activity,expressed by many epithelial cells,overexpressed in adrenal carcinoma

Phenotypes From GWAS Catalog for GRN Gene

Gene Ontology (GO) - Molecular Function for GRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005125 cytokine activity IEA --
GO:0005515 protein binding IPI 12526812
GO:0008083 growth factor activity TAS 1542665
GO:0051087 chaperone binding IDA 27789271
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:
  • Grn Grn<tm1Blrl>
  • Grn Grn<tm1.1Far>
  • Grn Grn<tm1.1Aidi>
  • Grn Grn<tm1.1Geno>
  • Grn Grn<tm1Mni>

Animal Model Products

CRISPR Products

Clone Products

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. Lysosome. Note=Endocytosed by SORT1 and delivred to lysosomes (PubMed:21092856, PubMed:28073925). Targeted to lysosome by PSAP via M6PR and LRP1, in both biosynthetic and endocytic pathways (PubMed:26370502, PubMed:28073925). Co-localized with GBA in the intracellular trafficking compartments until to lysosome (By similarity). {ECO:0000250 UniProtKB:P28798, ECO:0000269 PubMed:21092856, ECO:0000269 PubMed:26370502, ECO:0000269 PubMed:28073925}.

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
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
endosome 5
lysosome 5
golgi apparatus 5
nucleus 2
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
  • Endosomes (4)
  • Lysosomes (4)
See all subcellular structures

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 IDA 20479936
GO:0005764 lysosome IDA,IEA 26370502
GO:0005765 lysosomal membrane IDA 21092856
GO:0005768 endosome 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:0002265 astrocyte activation involved in immune response ISS --
GO:0002282 microglial cell activation involved in immune response ISS --
GO:0007040 lysosome organization ISS --
GO:0007041 lysosomal transport ISS --
GO:0007042 lysosomal lumen acidification IMP 28073925
genes like me logo Genes that share ontologies with GRN: view

Drugs & Compounds for GRN Gene

(4) Drugs for GRN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) 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

mRNA/cDNA for GRN Gene

CRISPR Products

Clone Products

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, 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)
  • Lymph node(2.4)
  • Gall bladder(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
Regions:
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

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 33 32
  • 99.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GRN 33 32
  • 82.57 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grn 32
  • 79.46 (n)
mouse
(Mus musculus)
Mammalia Grn 17 33 32
  • 78.72 (n)
dog
(Canis familiaris)
Mammalia GRN 33
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRN 33
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRN 33
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRN 33
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grn 32
  • 53.43 (n)
Str.4560 32
African clawed frog
(Xenopus laevis)
Amphibia grn-prov 32
zebrafish
(Danio rerio)
Actinopterygii grna 33 32
  • 48.96 (n)
OneToMany
grnb 33
  • 31 (a)
OneToMany
wufj14b08 32
worm
(Caenorhabditis elegans)
Secernentea T22H2.6b 34
  • 54 (a)
T22H2.6a 34
  • 39 (a)
pgrn-1 33
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7332 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GRN: view image

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 Variation AA Info Type
rs1022228740 uncertain-significance, Seizures 44,349,525(+) A/T coding_sequence_variant, missense_variant
rs111435385 benign, Frontotemporal dementia, ubiquitin-positive, Seizures 44,349,206(+) G/A coding_sequence_variant, synonymous_variant
rs114248177 benign, likely-benign, not specified, Seizures, - 44,352,133(+) G/A coding_sequence_variant, missense_variant
rs116547342 likely-benign, Frontotemporal dementia 44,353,078(+) G/A 3_prime_UTR_variant
rs1239690384 uncertain-significance, Ceroid lipofuscinosis, neuronal, 11, Frontotemporal dementia, ubiquitin-positive 44,349,426(+) G/A coding_sequence_variant, missense_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)

Additional Variant Information for GRN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GRN Gene

MalaCards: The human disease database

(34) MalaCards diseases for GRN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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
  • 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.
  • 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.

Additional Disease Information for GRN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Biochemical and biophysical research communications 1992) 2 3 4 23 56
  2. GRN variability contributes to sporadic frontotemporal lobar degeneration. (PMID: 20061636) Galimberti D … Scarpini E (Journal of Alzheimer's disease : JAD 2010) 3 23 43 56
  3. Brain progranulin expression in GRN-associated frontotemporal lobar degeneration. (PMID: 19649643) Chen-Plotkin AS … Lee VM (Acta neuropathologica 2010) 3 23 43 56
  4. Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly. (PMID: 20197700) Dickson DW … Rademakers R (Neuro-degenerative diseases 2010) 3 23 43 56
  5. Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease. (PMID: 19625741) Fenoglio C … Scarpini E (Journal of Alzheimer's disease : JAD 2009) 3 23 43 56

Products for GRN Gene