SMARCA5 Chromosome 4
SNF2 related chromatin remodeling ATPase 5
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What This Gene Does
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Myb/SANT domain containing|SNF2 related family|Chromatin accessibility complex|B-WICH chromatin-remodelling complex subunits|ACF complex|WICH complex|NoRC complex|RSF complex"
Locus Type
gene with protein product
Location
4q31.21
Ensembl
ENSG00000153147
Associated Conditions (10)
Inborn genetic diseases
Short stature
Intellectual disability
Failure to thrive
Microcephaly
Pubertal developmental failure in females
Pes planus
Delayed CNS myelination
Hypotonia
Global developmental delay
Key Variants
RS745725913
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1560814874
Likely pathogenic
Short stature, Short stature
Health Risk
RS2531485722
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2531497410
Pathogenic
Short stature, Failure to thrive, Microcephaly
Health Risk
RS2531511686
Pathogenic
Pes planus, Delayed CNS myelination, Hypotonia
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS745725913 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1560814874 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS2531485722 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2531497410 | Health Risk | Pathogenic | Short stature, Failure to thrive, Microcephaly |
| RS2531511686 | Health Risk | Pathogenic | Pes planus, Delayed CNS myelination, Hypotonia |