Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GRN Gene

Aliases for GRN Gene

  • Granulin 2 3 5
  • Proepithelin 3 4
  • Progranulin 2 3
  • PEPI 3 4
  • PC Cell-Derived Growth Factor 3
  • Granulin-Epithelin 3
  • Acrogranin 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) is a Protein Coding gene. Diseases associated with GRN include Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions and Ceroid Lipofuscinosis, Neuronal, 11. Among its related pathways are 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around GRN on UCSC Golden Path with GeneCards custom track

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

Proteomics data for GRN Gene at MOPED

Post-translational modifications for GRN Gene

  • Granulins are disulfide bridged.
  • Glycosylation at Asn 118, Thr 182, Asn 236, Asn 265, Asn 368, and Asn 530
  • Modification sites at PhosphoSitePlus

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:0005515 protein binding IEA,IPI 16189514
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

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
Jensen Localization Image for GRN Gene COMPARTMENTS Subcellular localization image for GRN gene
Compartment Confidence
extracellular 5
mitochondrion 3
lysosome 2
nucleus 2
vacuole 2
cytoskeleton 1
endosome 1

Gene Ontology (GO) - Cellular Components for GRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043231 intracellular membrane-bounded organelle 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:0010976 positive regulation of neuron projection development IEA --
GO:0035988 chondrocyte proliferation IEA --
GO:0060179 male mating behavior IEA --
GO:0060999 positive regulation of dendritic spine development IEA --
GO:0061351 neural precursor cell proliferation IEA --
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

Unigene Clusters for GRN Gene

Granulin:
Representative Sequences:

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 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, MOPED, and MaxQB for GRN Gene



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.
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
cow
(Bos Taurus)
Mammalia GRN 35
  • 82.57 (n)
  • 77.51 (a)
GRN 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grn 35
  • 78.72 (n)
  • 75.72 (a)
Grn 16
Grn 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GRN 35
  • 99.58 (n)
  • 99.36 (a)
GRN 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grn 35
  • 79.46 (n)
  • 75.72 (a)
dog
(Canis familiaris)
Mammalia GRN 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRN 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRN 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRN 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grn 35
  • 53.43 (n)
  • 48.19 (a)
Str.4560 35
African clawed frog
(Xenopus laevis)
Amphibia grn-prov 35
zebrafish
(Danio rerio)
Actinopterygii grna 35
  • 48.96 (n)
  • 44.51 (a)
wufj14b08 35
grna 36
  • 22 (a)
OneToMany
grnb 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T22H2.6a 37
  • 39 (a)
T22H2.6b 37
  • 54 (a)
pgrn-1 36
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7332 36
  • 30 (a)
OneToOne
Species with no ortholog for GRN:
  • 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
rs25647 - 44,352,471(+) CGTGG(C/G)TGTGA reference, missense
VAR_044451 Ubiquitin-positive frontotemporal dementia (UP-FTD)
rs63750723 - 44,349,219(+) GAACG(C/T)GGTGC reference, missense
VAR_064626 -
rs199944486 - 44,349,492(+) GCTCT(A/G)CCGGC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv908270 CNV Loss 21882294
dgv3175n71 CNV Loss 21882294
dgv3176n71 CNV Loss 21882294

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

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
frontotemporal lobar degeneration with ubiquitin-positive inclusions
  • aphasia, primary progressive
ceroid lipofuscinosis, neuronal, 11
  • neuronal ceroid lipofuscinosis 11
cln11 disease
  • grn-related neuronal ceroid-lipofuscinosis
dementia, frontotemporal
  • dementia, frontotemporal, with or without parkinsonism
grn-related frontotemporal dementia
  • frontotemporal dementia
- 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. 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 23 67
  2. Brain progranulin expression in GRN-associated frontotemporal lobar degeneration. (PMID: 19649643) Chen-Plotkin A.S. … Lee V.M. (Acta Neuropathol. 2010) 3 23
  3. Expression of progranulin (Acrogranin/PCDGF/Granulin-Epithelin Precursor) in benign and malignant ovarian tumors and activation of MAPK signaling in ovarian cancer cell line. (PMID: 19863344) Cuevas-Antonio R. … Diaz-Cueto L. (Cancer Invest. 2010) 3 23
  4. Cerebrospinal fluid progranulin levels in patients with different multiple sclerosis subtypes. (PMID: 19963041) De Riz M. … Scarpini E. (Neurosci. Lett. 2010) 3 23
  5. Pathogenic cysteine mutations affect progranulin function and production of mature granulins. (PMID: 20028451) Wang J. … Goate A. (J. Neurochem. 2010) 3 23

Products for GRN Gene

Sources for GRN Gene

Content