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

Health Risk

RS1306228988

Conflicting classifications of pathogenicity

Health Risk

RS139272628

Conflicting classifications of pathogenicity

Health Risk

RS140070738

Conflicting classifications of pathogenicity

Health Risk

RS1402302242

Conflicting classifications of pathogenicity

Health Risk

RS1426790644

Conflicting classifications of pathogenicity

Health Risk

RS143560849

Conflicting classifications of pathogenicity

Health Risk

RS149023078

Conflicting classifications of pathogenicity

Health Risk

RS149180605

Conflicting classifications of pathogenicity

Health Risk

RS149658268

Conflicting classifications of pathogenicity

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
RS2510057422	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2510057446	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510057451	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510057852	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510057977	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510058230	Health Risk	Pathogenic	GRN-related disorder, GRN-related disorder
RS2510058297	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS606231220	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63749801	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Frontotemporal dementia, Neuronal ceroid lipofuscinosis 11
RS63749844	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63749877	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63749905	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63749908	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750077	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750247	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63750313	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750331	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63750373	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63750411	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, Squamous cell carcinoma of the head and neck
RS63750548	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Primary progressive aphasia
RS63750768	Health Risk	Pathogenic	—
RS63750805	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63750873	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751006	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751035	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Frontotemporal dementia, Frontotemporal dementia
RS63751057	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Adult onset neurodegenerative disorder, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751085	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751092	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751166	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751177	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63751180	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, Amyotrophic lateral sclerosis type 10
RS63751193	Health Risk	Pathogenic	—
RS63751243	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63751294	Health Risk	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related disorder
RS63751296	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63751406	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS746037872	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS750312986	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS777211749	Health Risk	Pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS794729669	Health Risk	Pathogenic	Frontotemporal dementia, Frontotemporal dementia
RS794729670	Health Risk	Pathogenic	Frontotemporal dementia, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Frontotemporal dementia
RS794729671	Health Risk	Pathogenic	Frontotemporal dementia, Cognitive impairment, Frontotemporal dementia
RS794729672	Health Risk	Pathogenic	Frontotemporal dementia, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1555610855	Health Risk	Pathogenic/Likely pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1555611154	Health Risk	Pathogenic/Likely pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1555611293	Health Risk	Pathogenic/Likely pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related disorder
RS1598364961	Health Risk	Pathogenic/Likely pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2048359069	Health Risk	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS63749817	Health Risk	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Frontotemporal dementia
RS778599933	Health Risk	Pathogenic/Likely pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11, Inborn genetic diseases

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