PRMT9 Chromosome 4
Protein arginine methyltransferase 9
Upload your DNA to see your personal genotypes for variants in PRMT9.
What This Gene Does
This gene encodes a type II methyltransferase. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to the guanidino nitrogen atoms of arginine. The protein encoded by this gene methylates spliceosome associated protein 145 to regulate alternative splicing and acts as a modulator of small nuclear ribonucleoprotein maturation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
"7BS protein arginine methyltranferases|Arginine methyltransferases"
Locus Type
gene with protein product
Location
4q31.23
Ensembl
ENSG00000164169
Associated Conditions (1)
Neurodevelopmental abnormality
Key Variants
RS141216537
Conflicting classifications of pathogenicity
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS200956405
Conflicting classifications of pathogenicity
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS1392285676
Pathogenic
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS1394475208
Pathogenic
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS142189908
Pathogenic
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS1733174455
Pathogenic
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS2530575861
Pathogenic
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS2530677875
Pathogenic
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS2530679409
Pathogenic
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS2530696627
Pathogenic
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS2530696820
Pathogenic
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS552399598
Pathogenic
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141216537 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS200956405 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS1392285676 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS1394475208 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS142189908 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS1733174455 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS2530575861 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS2530677875 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS2530679409 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS2530696627 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS2530696820 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS552399598 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS747281440 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS748127912 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS756105948 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS759375404 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS767264426 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS769164317 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS780261399 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |