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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
External Ids for GRN Gene
- HGNC: 4601
- Entrez Gene: 2896
- Ensembl: ENSG00000030582
- OMIM: 138945
- UniProtKB: P28799
Previous GeneCards Identifiers for GRN Gene
- GC17P042164
- GC17P044599
- GC17P042433
- GC17P042897
- GC17P039778
- GC17P038189
- GC17P042422
Summaries 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 protein that acts as a 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). Regulates protein trafficking to lysosomes and, also the 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 structures (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 neurons by preserving neurons 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.
Additional gene information for GRN Gene
- HGNC(4601)
- Entrez Gene(2896)
- Ensembl(ENSG00000030582)
- OMIM(138945)
- UniProtKB(P28799)
- Open Targets Platform(ENSG00000030582)
- Monarch Initiative
- Search for GRN at DataMed
- Search for GRN at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRN
- 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
- chr17:44,345,246-44,353,106
- (GRCh38/hg38)
- Size:
- 7,861 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:
-
- 17q21.31 by HGNC
- 17q21.31 by Entrez Gene
- 17q21.31 by Ensembl
GRN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
- NX_P28799 (NX_P28799-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- GRN_HUMAN (1290)
Other Protein References for GRN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences GRN / Granulin Antibody
- G Biosciences Immunotag™ GRN Antibody
- Creative Diagnostics Anti-GRN monoclonal antibody, clone FQS7120
- GeneTex Anti-Granulins antibody
- Novus Biologicals Antibodies for GRN
-
Abcam antibodies for GRN
- Invitrogen Antibodies for GRN (AFLGC-GRN)
-
Boster Bio Antibodies for GRN
-
Santa Cruz Biotechnology (SCBT) Antibodies for GRN
- Sino Biological Antibodies for GRN
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for GRN
- Origene Custom Protein Services for GRN
- Sino Biological Recombinant Proteins for GRN
- Sino Biological Cell Lysates for GRN
- ProSpec Recombinant Proteins for GRN
-
Signalway Proteins for GRN
-
ProSci Proteins for GRN
-
Abcam proteins for GRN
Assay Products
- G Biosciences Immunotag™ Human GRN (Granulins ) ELISA and Immunotag™ Granulins ELISA Kit
- RayBiotech Human PGRN ELISA
- Novus Biologicals ELISA Kits for GRN
-
Abcam assays for GRN
- Sino Biological Assays for GRN
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
- InterPro:
- Blocks:
-
- Granulin
- 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- Family:
-
- Belongs to the granulin family.
Function for GRN Gene
Molecular function for GRN Gene
- UniProtKB/Swiss-Prot Function:
- Secreted protein that acts as a 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). Regulates protein trafficking to lysosomes and, also the 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 structures (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 neurons by preserving neurons 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
| 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 |
Phenotypes for GRN Gene
- MGI mutant phenotypes for GRN:
-
inferred from 10 alleles
- nervous system phenotype
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- reproductive system phenotype
- vision/eye phenotype
- hematopoietic system phenotype
- integument phenotype
- pigmentation phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for GRN:
Animal Models for GRN Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for GRN
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GRN - Select products 50% OFF >
- * GRN CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GRN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GRN
-
Santa Cruz Biotechnology (SCBT) CRISPR for GRN
miRNA for GRN Gene
- miRTarBase miRNAs that target GRN
-
- hsa-miR-659-3p (MIRT000034)
- hsa-miR-107 (MIRT004761)
- hsa-miR-29b-3p (MIRT005486)
- hsa-miR-9-5p (MIRT021404)
- hsa-miR-8056 (MIRT627121)
- hsa-miR-4752 (MIRT627122)
- hsa-miR-3691-5p (MIRT627123)
- hsa-miR-376c-5p (MIRT627124)
- hsa-miR-376b-5p (MIRT627125)
- hsa-miR-5191 (MIRT627126)
- hsa-miR-3939 (MIRT627127)
- hsa-miR-7114-5p (MIRT627128)
- hsa-miR-8485 (MIRT627129)
- hsa-miR-588 (MIRT735490)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GRN
- Browse OriGene Inhibitory RNA Products For GRN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRN
Clone Products
- Applied Biological Materials (abm): Clones for GRN - Select products 50% OFF >
- * GRN as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GRN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GRN
Cell Line Products
-
Horizon Cell Lines 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. 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| endosome | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| peroxisome | 1 |
- Endoplasmic reticulum (4)
- Endosomes (4)
- Lysosomes (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IBA,TAS | -- |
| GO:0005615 | extracellular space | IDA | 20479936 |
| GO:0005623 | cell | IEA | -- |
| GO:0005764 | lysosome | IEA,IDA | 26370502 |
| GO:0005765 | lysosomal membrane | IDA | 21092856 |
Pathways & Interactions for GRN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | Integrated Breast Cancer Pathway | ||
Pathways by source for GRN Gene
1 BioSystems pathway for GRN Gene
3 Reactome pathways for GRN Gene
Interacting Proteins for GRN Gene
Selected Interacting proteins:
P28799-GRN_HUMAN
ENSP00000053867
for GRN Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for GRN
| 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 |
Transcripts for GRN Gene
mRNA/cDNA for GRN Gene
- 2 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000053867 2130 nts (view in UCSC)
- ENST00000585348 600 nts (view in UCSC)
- ENST00000585512 562 nts (view in UCSC)
- ENST00000586242 665 nts (view in UCSC)
- ENST00000586443 1557 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GRN - Select products 50% OFF >
- * GRN CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GRN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GRN
-
Santa Cruz Biotechnology (SCBT) CRISPR for GRN
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GRN
- Browse OriGene Inhibitory RNA Products For GRN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRN
Clone Products
- Applied Biological Materials (abm): Clones for GRN - Select products 50% OFF >
- * GRN as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GRN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GRN
| 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
Expression for GRN Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Hematopoietic System)
-
Trophoblast (Extraembryonic Tissues)
- Trophoblast Cells Trophoblast
- Trophoblast
- Mesenchymal Stem Cells
- Umbilical Cord (Extraembryonic Tissues)
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
-
Ovary (Reproductive System)
-
Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for GRN Gene
This gene is overexpressed in Whole Blood (x7.1).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRN
SOURCE GeneReport for Unigene cluster for GRN Gene:
Hs.514220mRNA 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
- Nervous system(5)
- Blood(5)
- Lung(5)
- Kidney(5)
- Spleen(4.9)
- Liver(4.9)
- Intestine(4.9)
- Skin(4.8)
- Bone marrow(4.6)
- Pancreas(4.2)
- Heart(4.1)
- Stomach(4.1)
- Thyroid gland(3.8)
- Muscle(3.3)
- Eye(3.2)
- Lymph node(3)
- Adrenal gland(2.6)
- Gall bladder(2.5)
- Bone(2.4)
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
Primer Products
-
OriGene qPCR primer pairs for GRN
-
OriGene qPCR primer pairs and template standards for GRN
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GRN 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GRN 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Grn 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Grn 30 17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GRN 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GRN 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GRN 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GRN 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | grn 30 |
|
||
| Str.4560 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | grn-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | grna 30 31 |
|
OneToMany | |
| grnb 31 |
|
OneToMany | |||
| wufj14b08 30 |
|
||||
| Worm (Caenorhabditis elegans) |
Secernentea | T22H2.6b 32 |
|
|
|
| T22H2.6a 32 |
|
|
|||
| pgrn-1 31 |
|
OneToOne | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7332 31 |
|
OneToOne |
- Species where no ortholog for GRN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRN Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 641757 | Uncertain Significance: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 | 44,352,685(+) | C/T | MISSENSE_VARIANT | |
| 643134 | Uncertain Significance: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 | 44,351,360(+) | C/T | ||
| 645598 | Uncertain Significance: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 | 44,350,320(+) | G/A | MISSENSE_VARIANT | |
| 645886 | Uncertain Significance: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 | 44,349,537(+) | T/C | MISSENSE_VARIANT | |
| 651116 | Uncertain Significance: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 | 44,349,516(+) | G/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5606n54 | CNV | loss | 21841781 |
| dgv5607n54 | CNV | loss | 21841781 |
| nsv1146669 | OTHER | inversion | 26484159 |
| nsv475965 | CNV | novel sequence insertion | 20440878 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRN Gene
Disorders for GRN Gene
(57) MalaCards diseases for GRN Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ceroid lipofuscinosis, neuronal, 11 |
|
|
| frontotemporal lobar degeneration with tdp43 inclusions, grn-related |
|
|
| frontotemporal dementia |
|
|
| progressive non-fluent aphasia |
|
|
| aphasia |
|
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
- Open Targets Platform
No data available for Genatlas for GRN Gene
Publications for GRN Gene
- 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
- 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 41
- GRN variability contributes to sporadic frontotemporal lobar degeneration. (PMID: 20061636) Galimberti D … Scarpini E (Journal of Alzheimer's disease : JAD 2010) 3 23 41
- Brain progranulin expression in GRN-associated frontotemporal lobar degeneration. (PMID: 19649643) Chen-Plotkin AS … Lee VM (Acta neuropathologica 2010) 3 23 41
- Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. (PMID: 19158106) Finch N … Rademakers R (Brain : a journal of neurology 2009) 3 23 41
ExternalLinks
Products for GRN Gene
- View all 19 R&D Systems GRN (Progranulin/PGRN) Products
- View all R&D Systems GRN (Progranulin/PGRN) Proteins and Enzymes
- View all 13 R&D Systems GRN (Progranulin/PGRN) Primary Antibodies
- View all 3 R&D Systems GRN (Progranulin/PGRN) ELISAs
- View all R&D Systems GRN (Progranulin/PGRN) Luminex Assays
- View all R&D Systems GRN (Progranulin/PGRN) Proteome Profiler Antibody Arrays
- Learn more about R&D Systems custom GRN antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for GRN
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- antibodies-online: Show 39 available Granulin Antibodies ranked by validation data
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRN
Sources for GRN Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
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- (16) Blocks
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- (20) MINT
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
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- (109) Disease Ontology
- (110) Genetics Home Reference
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- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
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- (143) Applied Biosystems
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- (148) RNACentral
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- (152) DiseaseEnhancer
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- (154) Biorbyt
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- (156) Mastermind
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- (158) CraniofacialAtlas
- (159) GeneImprint
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- (175) Open Targets Platform
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- (177) snoDB
- (178) MirGeneDB