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

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 55599
Gene name RNA binding region (RNP1, RRM) containing 3
Gene symbol RNPC3
Synonyms (NCBI Gene)
CPHD7IGHD5RBM40RNPSNRNP65
Chromosome 1
Chromosome location 1p21.1
Summary 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 a
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs370930012 C>A Pathogenic Missense variant, coding sequence variant
rs918108896 C>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
6
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT026449 hsa-miR-192-5p Microarray 19074876
MIRT1314335 hsa-miR-1197 CLIP-seq
MIRT1314336 hsa-miR-1252 CLIP-seq
MIRT1314337 hsa-miR-4462 CLIP-seq
MIRT1314338 hsa-miR-4635 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0005634 Component Nucleus IDA 18559850
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
618016 18666 ENSG00000185946
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96LT9
Protein name RNA-binding region-containing protein 3 (RNA-binding motif protein 40) (RNA-binding protein 40) (U11/U12 small nuclear ribonucleoprotein 65 kDa protein) (U11/U12 snRNP 65 kDa protein) (U11/U12-65K)
Protein function Participates in pre-mRNA U12-dependent splicing, performed by the minor spliceosome which removes U12-type introns. U12-type introns comprises less than 1% of all non-coding sequences. Binds to the 3'-stem-loop of m(7)G-capped U12 snRNA. {ECO:00
PDB 3EGN , 5OBN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 29 → 96 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 422 → 497 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pancreas and kidney. Detected at lower levels in heart, brain, placenta, lung, liver, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocytes. {ECO:0000269|PubMed:14974681}.
Sequence 
MAAPEQPLAISRGCTSSSSLSPPRGDRTLLVRHLPAELTAEEKEDLLKYFGAQSVRVLSD
KGRLKHTAFATFPNEKAAIKALTRLHQLKLLGHTLVVEFAKEQDRVHSPCPTSGSEKKKR
SDDPVEDDKEKKELGYLTVENGIAPNHGLTFPLNSCLKYMYPPPSSTILANIVNALASVP
KFYVQVLHLMNKMNLPTPFGPITARPPMYEDYMPLHAPLPPTSPQPPEEPPLPDEDEELS
SEESEYESTDDEDRQRMNKLMELANLQPKRPKTIKQRHVRKKRKIKDMLNTPLCPSHSSL
HPVLLPSDVFDQPQPVGNKRIEFHISTDMPAAFKKDLEKEQNCEEKNHDLPATEVDASNI
GFGKIFPKPNLDITEEIKEDSDEMPSECISRRELEKGRISREEMETLSVFRSYEPGEPNC
RIYVKNLAKHVQEKDLKYIFGRYVDFSSETQRIMFDIRLMKEGRMKGQAFIGLPNEKAAA
KALKEANGYVLFGKPMVVQFARSARPKQDPKEGKRKC
Sequence length 517
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    mRNA Splicing - Minor Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Decreased response to growth hormone stimulation test Pathogenic rs939646611, rs2101045488, rs370930012 RCV001594475
RCV001594476
RCV001594403
★★★★★
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated growth hormone deficiency, type 5 Pathogenic; Likely pathogenic rs939646611, rs1461692571, rs2101053814, rs1332137733, rs2101044774, rs2101044148, rs2101050974, rs1292326578, rs370930012, rs918108896 RCV001775170
RCV001594477
RCV001594478
RCV001775197
RCV001775198
View all (5 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM I — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (77)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 20194618, 24023061, 24773620 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 26124092, 32189459 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 32189459 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia Pubtator 32462814 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 11762950, 27681518
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 37131295 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 28816533
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Chronic Hepatitis Autoimmune hepatitis BEFREE 15780067
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 11903229, 16126005, 20797908, 22554526, 25736140, 27821747, 29569858, 6232211
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 16301677 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only