RNPC3 (RNA binding region (RNP1, RRM) containing 3)

2014-11-01  

Identity

HGNC
RNPC3
LOCATION
1p21.1
LOCUSID
55599
ALIAS
IGHD5,RBM40,RNP,SNRNP65
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55599
MIM: 618016
HGNC: 18666
Ensembl: ENSG00000185946

Variants:

dbSNP: 55599
ClinVar: 55599
TCGA: ENSG00000185946
COSMIC: RNPC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185946ENST00000423855Q96LT9
ENSG00000185946ENST00000524631Q96LT9
ENSG00000185946ENST00000524641H0YEB8
ENSG00000185946ENST00000527062E9PPV2
ENSG00000185946ENST00000531883X6RLP6
ENSG00000185946ENST00000532117H0YE07
ENSG00000185946ENST00000533099Q96LT9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165

References

Pubmed IDYearTitleCitations
374635722024A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.1
374635722024A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.1
349064462022Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.1
349064462022Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.1
336501822021Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.3
336501822021Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.3
324628142020Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.10
324628142020Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.10
292550622018Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.9
292550622018Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.9
275105442016U6atac snRNA stem-loop interacts with U12 p65 RNA binding protein and is functionally interchangeable with the U12 apical stem-loop III.5
275105442016U6atac snRNA stem-loop interacts with U12 p65 RNA binding protein and is functionally interchangeable with the U12 apical stem-loop III.5
244805422014Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.48
244805422014Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.48
160966472005The U11/U12 snRNP 65K protein acts as a molecular bridge, binding the U12 snRNA and U11-59K protein.34

Citation

Dessen P

RNPC3 (RNA binding region (RNP1, RRM) containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72720/case-report-explorer/welcome