Entity Details

Primary name RNPC3
Entity type gene
Source Source Link

Details

PrimaryID55599
RefseqGene
SymbolRNPC3
NameRNA binding region (RNP1, RRM) containing 3
Chromosome1
Location1p21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-24
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRNPC3_HUMAN

GO terms

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GOName
GO:0000398 mRNA splicing, via spliceosome
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005689 U12-type spliceosomal complex
GO:0008380 RNA splicing
GO:0030626 U12 snRNA binding
GO:0097157 pre-mRNA intronic binding

Diseases

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Disease IDSourceNameDescription
618160 OMIMGrowth hormone deficiency, isolated, 5 (IGHD5)An autosomal recessive deficiency of growth hormone characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary. The disease is caused by variants affecting the gene represented in this entry.