GRN Chromosome 17

Granulin precursor
150 variants 150 Health Risk

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What This Gene Does
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]
Associated Conditions (15)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
Inborn genetic diseases
GRN-related disorder
Frontotemporal dementia
Melanoma
Malignant tumor of urinary bladder
Gastric cancer
Alzheimer disease
Parkinsonian disorder
Squamous cell carcinoma of the head and neck
Adult onset neurodegenerative disorder
Primary progressive aphasia
Amyotrophic lateral sclerosis type 10
Cognitive impairment
Key Variants
RS1044281109
Conflicting classifications of pathogenicity
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Health Risk
RS1306228988
Conflicting classifications of pathogenicity
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Health Risk
RS139272628
Conflicting classifications of pathogenicity
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, Inborn genetic diseases
Health Risk
RS140070738
Conflicting classifications of pathogenicity
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Health Risk
RS1402302242
Conflicting classifications of pathogenicity
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Health Risk
RS1426790644
Conflicting classifications of pathogenicity
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Health Risk
RS143560849
Conflicting classifications of pathogenicity
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, Inborn genetic diseases
Health Risk
RS149023078
Conflicting classifications of pathogenicity
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, Inborn genetic diseases
Health Risk
RS149180605
Conflicting classifications of pathogenicity
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, Inborn genetic diseases
Health Risk
RS149658268
Conflicting classifications of pathogenicity
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 11
Health Risk
RS1567887777
Conflicting classifications of pathogenicity
Frontotemporal dementia, Melanoma, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Health Risk
RS200019356
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
Health Risk
All Variants (150)
RSID Category Clinical Significance Conditions
RS1003823098 Health Risk Pathogenic Parkinsonian disorder, Parkinsonian disorder
RS1191556044 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1392550887 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1555611136 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1555611253 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1555611256 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1555611412 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1555611439 Health Risk Pathogenic
RS1567885658 Health Risk Pathogenic Frontotemporal dementia, GRN-related disorder, Frontotemporal dementia
RS1567886206 Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1567886445 Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1567886478 Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1567887004 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1567887015 Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1567887496 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1567887567 Health Risk Pathogenic
RS1567888461 Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1598362746 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1598363083 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1598363490 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1598364296 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1598364782 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS193026789 Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS2044779598 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2048347685 Health Risk Pathogenic
RS2048353899 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2048384991 Health Risk Pathogenic
RS2143325096 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2143325486 Health Risk Pathogenic
RS2143337085 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Melanoma, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2143337849 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2143342203 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2143344327 Health Risk Pathogenic
RS2143344360 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2143347736 Health Risk Pathogenic
RS2143348249 Health Risk Pathogenic
RS2510054161 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510054302 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510054318 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510054484 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510054566 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510054676 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510054721 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510054791 Health Risk Pathogenic GRN-related disorder, GRN-related disorder
RS2510055303 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510055566 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510055662 Health Risk Pathogenic
RS2510056360 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510056456 Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510057200 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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