SRP54 Chromosome 14
Signal recognition particle 54
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What This Gene Does
Enables several functions, including 7S RNA binding activity; endoplasmic reticulum signal peptide binding activity; and guanyl ribonucleotide binding activity. Contributes to GTPase activity. Involved in granulocyte differentiation and protein targeting to ER. Located in cytosol and nucleus. Part of signal recognition particle, endoplasmic reticulum targeting. Implicated in severe congenital neutropenia 8. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Signal recognition particle|Signal recognition particle GTPases"
Locus Type
gene with protein product
Location
14q13.2
Ensembl
ENSG00000100883
Associated Conditions (9)
Inborn genetic diseases
Neutropenia
severe congenital
8
autosomal dominant
Shwachman-Diamond syndrome 1
Ciliary dyskinesia
primary
40
Key Variants
RS144152355
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150290957
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS191230389
Conflicting classifications of pathogenicity
Health Risk
RS532831292
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS762871779
Conflicting classifications of pathogenicity
Health Risk
RS1594996301
Likely pathogenic
Neutropenia, severe congenital, 8
Health Risk
RS2044272867
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555354200
Pathogenic
Shwachman-Diamond syndrome 1, Neutropenia, severe congenital
Health Risk
RS1595004126
Pathogenic
Neutropenia, severe congenital, 8
Health Risk
RS1595004676
Pathogenic
Neutropenia, severe congenital, 8
Health Risk
RS1555354198
Pathogenic/Likely pathogenic
Shwachman-Diamond syndrome 1, Neutropenia, severe congenital
Health Risk
RS1555354750
Pathogenic/Likely pathogenic
Shwachman-Diamond syndrome 1, Neutropenia, severe congenital
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144152355 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150290957 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS191230389 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS532831292 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762871779 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1594996301 | Health Risk | Likely pathogenic | Neutropenia, severe congenital, 8 |
| RS2044272867 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555354200 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Neutropenia, severe congenital |
| RS1595004126 | Health Risk | Pathogenic | Neutropenia, severe congenital, 8 |
| RS1595004676 | Health Risk | Pathogenic | Neutropenia, severe congenital, 8 |
| RS1555354198 | Health Risk | Pathogenic/Likely pathogenic | Shwachman-Diamond syndrome 1, Neutropenia, severe congenital |
| RS1555354750 | Health Risk | Pathogenic/Likely pathogenic | Shwachman-Diamond syndrome 1, Neutropenia, severe congenital |