RNPC3 Chromosome 1
RNA binding region (RNP1, RRM) containing 3
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What This Gene Does
Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"RNA binding motif containing|U11/U12 di-snRNP"
Locus Type
gene with protein product
Location
1p21.1
Ensembl
ENSG00000185946
Associated Conditions (3)
Isolated growth hormone deficiency
type 5
Decreased response to growth hormone stimulation test
Key Variants
RS1292326578
Likely pathogenic
Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency
Health Risk
RS1332137733
Pathogenic
Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency
Health Risk
RS1461692571
Pathogenic
Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency
Health Risk
RS2101044148
Pathogenic
Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency
Health Risk
RS2101044774
Pathogenic
Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency
Health Risk
RS2101045488
Pathogenic
Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
Health Risk
RS2101050974
Pathogenic
Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency
Health Risk
RS2101053814
Pathogenic
Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency
Health Risk
RS370930012
Pathogenic
Isolated growth hormone deficiency, type 5, Decreased response to growth hormone stimulation test
Health Risk
RS918108896
Pathogenic
Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency
Health Risk
RS939646611
Pathogenic
Decreased response to growth hormone stimulation test, Isolated growth hormone deficiency, type 5
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1292326578 | Health Risk | Likely pathogenic | Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency |
| RS1332137733 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency |
| RS1461692571 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency |
| RS2101044148 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency |
| RS2101044774 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency |
| RS2101045488 | Health Risk | Pathogenic | Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test |
| RS2101050974 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency |
| RS2101053814 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency |
| RS370930012 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 5, Decreased response to growth hormone stimulation test |
| RS918108896 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 5, Isolated growth hormone deficiency |
| RS939646611 | Health Risk | Pathogenic | Decreased response to growth hormone stimulation test, Isolated growth hormone deficiency, type 5 |