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

Aliases for GRN Gene

Aliases for GRN Gene

  • Granulin 2 3
  • Proepithelin 3 4
  • Progranulin 2 3
  • CLN11 3 6
  • PEPI 3 4
  • PC Cell-Derived Growth Factor 3
  • Granulin-Epithelin 3
  • Acrogranin 3
  • Granulins 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 ceroid lipofuscinosis, neuronal, 11 and frontotemporal lobar degeneration with ubiquitin-positive inclusions. Among its related pathways are Integrated Breast Cancer Pathway. GO annotations related to this gene include cytokine activity 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

Genomic Location for GRN Gene

Start:
44,345,123 bp from pter
End:
44,353,106 bp from pter
Size:
7,984 bases
Orientation:
Plus strand

Genomic View for GRN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn118, Thr182, Asn236, Asn265, Asn368, and Asn530
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GRN Gene

Domains 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 :
  • P28799
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:0005125 cytokine activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0008083 growth factor activity TAS 1542665
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with GRN: view
genes like me logo Genes that share phenotypes with GRN: view

Animal Models for GRN Gene

MGI Knock Outs for GRN:

miRNA for GRN Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
endosome 2
mitochondrion 2
nucleus 2
cytoskeleton 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005739 mitochondrion IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with GRN: view

Pathways 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

Gene Ontology (GO) - Biological Process for GRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001835 blastocyst hatching IEA --
GO:0007165 signal transduction NAS 1542665
GO:0007566 embryo implantation IEA --
GO:0008219 cell death --
GO:0050679 positive regulation of epithelial cell proliferation IEA --
genes like me logo Genes that share ontologies with GRN: view

Compounds for GRN Gene

(7) Novoseek inferred chemical compound relationships for GRN Gene

Compound -log(P) Hits PubMed IDs
cysteine 17.5 6
tamoxifen 3.71 3
estradiol 0.791 3
glucose 0 1
agar 0 2
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 (7.1).

Integrated Proteomics: protein expression 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 expressions with GRN: view

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 35
  • 99.58 (n)
  • 99.36 (a)
GRN 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRN 35
  • 82.57 (n)
  • 77.51 (a)
GRN 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRN 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grn 35
  • 78.72 (n)
  • 75.72 (a)
Grn 16
Grn 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRN 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRN 36
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grn 35
  • 79.46 (n)
  • 75.72 (a)
lizard
(Anolis carolinensis)
Reptilia GRN 36
  • 46 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia grn-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia grn 35
  • 53.43 (n)
  • 48.19 (a)
Str.4560 35
zebrafish
(Danio rerio)
Actinopterygii grna 35
  • 48.96 (n)
  • 44.51 (a)
grna 36
  • 22 (a)
OneToMany
grnb 36
  • 31 (a)
OneToMany
wufj14b08 35
worm
(Caenorhabditis elegans)
Secernentea pgrn-1 36
  • 32 (a)
OneToOne
T22H2.6a 37
  • 39 (a)
T22H2.6b 37
  • 54 (a)
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 MAF
rs5848 other 44,352,876(-) TAGGG(A/G)GAGGT utr-variant-3-prime
rs25646 untested 44,350,262(+) CCTGA(C/T)AGTCA synonymous-codon, reference
rs25647 untested, - 44,352,471(+) CGTGG(C/G)TGTGA missense, reference
rs850713 -- 44,350,364(-) ACATA(C/T)CCCCA intron-variant
rs1059738 -- 44,352,906(+) CCATT(C/T)TGAGC utr-variant-3-prime

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

Relevant External Links for GRN Gene

HapMap Linkage Disequilibrium report
GRN
Human Gene Mutation Database (HGMD)
GRN
Locus Specific Mutation Databases (LSDB)
GRN

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

Disorders for GRN Gene

(2) OMIM Diseases for GRN Gene (138945)

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. 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.

(31) Novoseek inferred disease relationships for GRN Gene

Disease -log(P) Hits PubMed IDs
frontotemporal dementia 96 93
aphasia primary progressive 88.3 2
semantic dementia 82.9 1
motor neuron disease 78.6 6
progressive nonfluent aphasia 74.2 1

Relevant External Links for GRN

GeneTests
GRN
GeneReviews
GRN
Genetic Association Database (GAD)
GRN
Human Genome Epidemiology (HuGE) Navigator
GRN
genes like me logo Genes that share disorders with GRN: view

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
  2. Granulins, a novel class of peptide from leukocytes. (PMID: 2268320) Bateman A. … Solomon S. (Biochem. Biophys. Res. Commun. 1990) 3 4 23
  3. Design and solution structure of a well-folded stack of two beta- hairpins based on the amino-terminal fragment of human granulin A. (PMID: 10715107) Tolkatchev D. … Ni F. (Biochemistry 2000) 3 4 23
  4. HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin- positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. (PMID: 16983685) Mukherjee O. … Goate A.M. (Ann. Neurol. 2006) 3 4 23
  5. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. (PMID: 16862116) Baker M. … Hutton M. (Nature 2006) 3 4 23

Products for GRN Gene

Sources for GRN Gene

Back to Top

Content