SON Chromosome 21
SON DNA and RNA binding protein
Upload your DNA to see your personal genotypes for variants in SON.
What This Gene Does
This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
"G-patch domain containing|Minor histocompatibility antigens|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
21q22.11
Ensembl
ENSG00000159140
Associated Conditions (9)
ZTTK syndrome
Inborn genetic diseases
SON-related disorder
Intellectual disability
Failure to thrive
Global developmental delay
See cases
Neurodevelopmental abnormality
Hereditary spastic paraplegia 17
Key Variants
RS1027499310
Conflicting classifications of pathogenicity
Health Risk
RS1038271217
Conflicting classifications of pathogenicity
ZTTK syndrome, ZTTK syndrome
Health Risk
RS1210956110
Conflicting classifications of pathogenicity
ZTTK syndrome, ZTTK syndrome
Health Risk
RS1225874870
Conflicting classifications of pathogenicity
ZTTK syndrome, ZTTK syndrome
Health Risk
RS1250702016
Conflicting classifications of pathogenicity
Health Risk
RS1312220322
Conflicting classifications of pathogenicity
ZTTK syndrome, ZTTK syndrome
Health Risk
RS1347277368
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141495709
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1418818463
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144716297
Conflicting classifications of pathogenicity
SON-related disorder, Intellectual disability, SON-related disorder
Health Risk
RS144772325
Conflicting classifications of pathogenicity
ZTTK syndrome, SON-related disorder, ZTTK syndrome
Health Risk
RS145573687
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (168)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2517368907 | Health Risk | Pathogenic | ZTTK syndrome, ZTTK syndrome |
| RS2517370239 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2517371094 | Health Risk | Pathogenic | ZTTK syndrome, ZTTK syndrome |
| RS2517381422 | Health Risk | Pathogenic | — |
| RS2517387184 | Health Risk | Pathogenic | ZTTK syndrome, ZTTK syndrome |
| RS2517395064 | Health Risk | Pathogenic | — |
| RS2517403206 | Health Risk | Pathogenic | ZTTK syndrome, ZTTK syndrome |
| RS778418096 | Health Risk | Pathogenic | ZTTK syndrome, Inborn genetic diseases, Inborn genetic diseases |
| RS779189159 | Health Risk | Pathogenic | ZTTK syndrome, ZTTK syndrome |
| RS886039774 | Health Risk | Pathogenic | ZTTK syndrome, Inborn genetic diseases, ZTTK syndrome |
| RS886039776 | Health Risk | Pathogenic | ZTTK syndrome, ZTTK syndrome |
| RS886041970 | Health Risk | Pathogenic | — |
| RS905110628 | Health Risk | Pathogenic | — |
| RS1114167303 | Health Risk | Pathogenic/Likely pathogenic | Failure to thrive, Global developmental delay, ZTTK syndrome |
| RS2145838966 | Health Risk | Pathogenic/Likely pathogenic | See cases, ZTTK syndrome, See cases |
| RS886039773 | Health Risk | Pathogenic/Likely pathogenic | ZTTK syndrome, Failure to thrive, Global developmental delay |
| RS886039775 | Health Risk | Pathogenic/Likely pathogenic | ZTTK syndrome, ZTTK syndrome |
| RS886039777 | Health Risk | Pathogenic/Likely pathogenic | ZTTK syndrome, Failure to thrive, Global developmental delay |