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Aliases for SNRNP200 Gene

Aliases for SNRNP200 Gene

  • Small Nuclear Ribonucleoprotein U5 Subunit 200 2 3 5
  • Activating Signal Cointegrator 1 Complex Subunit 3-Like 1 2 3 4
  • Small Nuclear Ribonucleoprotein, U5 200kDa Subunit 2 3
  • Small Nuclear Ribonucleoprotein 200kDa (U5) 2 3
  • U5 SnRNP-Specific 200 KDa Protein 3 4
  • BRR2 Homolog 3 4
  • U5-200KD 3 4
  • ASCC3L1 3 4
  • HELIC2 3 4
  • Bad Response To Refrigeration 2 Homolog (S. Cerevisiae) 2
  • U5 Small Nuclear Ribonucleoprotein 200 KDa Helicase 3
  • Retinitis Pigmentosa 33 (Autosomal Dominant) 2
  • Bad Response To Refrigeration 2 Homolog 3
  • U5 SnRNP Specific Protein, 200 KD 2
  • EC 3.6.4.13 4
  • KIAA0788 4
  • EC 3.6.1 56
  • BRR2 3
  • RP33 3

External Ids for SNRNP200 Gene

Previous HGNC Symbols for SNRNP200 Gene

  • ASCC3L1
  • RP33

Previous GeneCards Identifiers for SNRNP200 Gene

  • GC02M096940
  • GC02M090901

Summaries for SNRNP200 Gene

Entrez Gene Summary for SNRNP200 Gene

  • Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]

GeneCards Summary for SNRNP200 Gene

SNRNP200 (Small Nuclear Ribonucleoprotein U5 Subunit 200) is a Protein Coding gene. Diseases associated with SNRNP200 include Retinitis Pigmentosa 33 and Retinitis Pigmentosa. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is ASCC3.

UniProtKB/Swiss-Prot for SNRNP200 Gene

  • RNA helicase that plays an essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes. Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome.

Gene Wiki entry for SNRNP200 Gene

Additional gene information for SNRNP200 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNRNP200 Gene

Genomics for SNRNP200 Gene

GeneHancer (GH) Regulatory Elements for SNRNP200 Gene

Promoters and enhancers for SNRNP200 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I096304 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 569.7 -0.1 -70 2.4 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SNRNP200 CIAO1 KANSL3 NCAPH STARD7-AS1 ASTL DUSP2 ENSG00000230747
GH02I096856 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 47.1 -552.9 -552946 3.7 HDGF HNRNPUL1 PKNOX1 ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 ANKRD23 ANKRD39 SNRNP200 KANSL3 STARD7-AS1 ANKRD36 SEMA4C LMAN2L GC02P096839
GH02I096263 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 46.9 +39.7 39709 3.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 CIAO1 TMEM127 SNRNP200 KANSL3 ITPRIPL1 ENSG00000230747 CNNM3 ANKRD36 NCAPH ASTL
GH02I096334 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 40.8 -30.4 -30416 2.7 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 POLR2B ZNF207 NCAPH SNRNP200 CIAO1 ITPRIPL1 KANSL3 STARD7-AS1 PIR33612
GH02I096636 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 33 -332.1 -332139 2.8 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC KANSL3 SNRNP200 CNNM3 ANKRD36B STARD7-AS1 LMAN2L CIAO1 FER1L5 GC02P096595
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SNRNP200 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNRNP200 gene promoter:

Genomic Locations for SNRNP200 Gene

Genomic Locations for SNRNP200 Gene
chr2:96,274,336-96,305,569
(GRCh38/hg38)
Size:
31,234 bases
Orientation:
Minus strand
chr2:96,940,074-96,971,307
(GRCh37/hg19)

Genomic View for SNRNP200 Gene

Genes around SNRNP200 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNRNP200 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNRNP200 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNRNP200 Gene

Proteins for SNRNP200 Gene

  • Protein details for SNRNP200 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75643-U520_HUMAN
    Recommended name:
    U5 small nuclear ribonucleoprotein 200 kDa helicase
    Protein Accession:
    O75643
    Secondary Accessions:
    • O94884
    • Q6NZY0
    • Q6PX59
    • Q8NBE6
    • Q96IF2
    • Q9H7S0

    Protein attributes for SNRNP200 Gene

    Size:
    2136 amino acids
    Molecular mass:
    244508 Da
    Quaternary structure:
    • Component of a core complex containing at least PRPF8, SNRNP200, EFTUD2 and SNRNP40. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Identified in the spliceosome C complex.
    SequenceCaution:
    • Sequence=BAB14906.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SNRNP200 Gene

    Alternative splice isoforms for SNRNP200 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNRNP200 Gene

Selected DME Specific Peptides for SNRNP200 Gene

O75643:
  • TLAWGVN
  • QNPNYYNL
  • APTGSGKT
  • GAIQVVV
  • LLLQAHLSR
  • FNPIQTQVF

Post-translational modifications for SNRNP200 Gene

  • Ubiquitination at isoforms=2358, posLast=469469, posLast=479479, isoforms=2557, isoforms=770, posLast=10391039, isoforms=1421, posLast=14311431, posLast=15441544, and isoforms=1961

Other Protein References for SNRNP200 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SNRNP200 Gene

Gene Families for SNRNP200 Gene

Graphical View of Domain Structure for InterPro Entry

O75643

UniProtKB/Swiss-Prot:

U520_HUMAN :
  • Contains two helicase domains. The N-terminal helicase domain has catalytic activity by itself, contrary to the C-terminal helicase domain that may have a regulatory role and enhance the activity of the first helicase domain.
  • Belongs to the helicase family. SKI2 subfamily.
Domain:
  • Contains two helicase domains. The N-terminal helicase domain has catalytic activity by itself, contrary to the C-terminal helicase domain that may have a regulatory role and enhance the activity of the first helicase domain.
Family:
  • Belongs to the helicase family. SKI2 subfamily.
genes like me logo Genes that share domains with SNRNP200: view

Function for SNRNP200 Gene

Molecular function for SNRNP200 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
RNA helicase that plays an essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes. Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome.

Enzyme Numbers (IUBMB) for SNRNP200 Gene

Phenotypes From GWAS Catalog for SNRNP200 Gene

Gene Ontology (GO) - Molecular Function for SNRNP200 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA,IDA 22658674
GO:0004004 ATP-dependent RNA helicase activity IDA 23045696
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 16730941
genes like me logo Genes that share ontologies with SNRNP200: view
genes like me logo Genes that share phenotypes with SNRNP200: view

Human Phenotype Ontology for SNRNP200 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SNRNP200 Gene

MGI Knock Outs for SNRNP200:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for SNRNP200 Gene

Localization for SNRNP200 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNRNP200 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNRNP200 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SNRNP200 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 22720776
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA,IDA 8670905
GO:0005682 U5 snRNP IDA 9539711
GO:0016020 membrane IDA,HDA 16210410
genes like me logo Genes that share ontologies with SNRNP200: view

Pathways & Interactions for SNRNP200 Gene

genes like me logo Genes that share pathways with SNRNP200: view

Pathways by source for SNRNP200 Gene

Gene Ontology (GO) - Biological Process for SNRNP200 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000354 cis assembly of pre-catalytic spliceosome IC 9539711
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0001649 osteoblast differentiation HDA,IDA 16210410
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with SNRNP200: view

No data available for SIGNOR curated interactions for SNRNP200 Gene

Drugs & Compounds for SNRNP200 Gene

(3) Drugs for SNRNP200 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for SNRNP200 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with SNRNP200: view

Transcripts for SNRNP200 Gene

Unigene Clusters for SNRNP200 Gene

Small nuclear ribonucleoprotein 200kDa (U5):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNRNP200 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24a ·
SP1: -
SP2: - - - - - - - - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33a · 33b · 33c ^ 34a · 34b ^ 35a · 35b ^ 36a · 36b · 36c ^ 37 ^ 38a · 38b · 38c ^ 39 ^
SP1: - - - - - - -
SP2: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: -
SP10:

ExUns: 40 ^ 41 ^ 42 ^ 43 ^ 44a · 44b ^ 45
SP1:
SP2: - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for SNRNP200 Gene

GeneLoc Exon Structure for
SNRNP200
ECgene alternative splicing isoforms for
SNRNP200

Expression for SNRNP200 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNRNP200 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNRNP200 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.3), Retina (8.3), and Fetal ovary (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SNRNP200 Gene



Protein tissue co-expression partners for SNRNP200 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNRNP200 Gene:

SNRNP200

SOURCE GeneReport for Unigene cluster for SNRNP200 Gene:

Hs.246112

mRNA Expression by UniProt/SwissProt for SNRNP200 Gene:

O75643-U520_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for SNRNP200 Gene

  • Nervous system(4.9)
  • Skin(4.7)
  • Blood(4.4)
  • Eye(4.4)
  • Liver(4.4)
  • Lung(3.9)
  • Heart(3.6)
  • Intestine(3.5)
  • Adrenal gland(3.1)
  • Pancreas(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SNRNP200 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with SNRNP200: view

No data available for mRNA differential expression in normal tissues for SNRNP200 Gene

Orthologs for SNRNP200 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SNRNP200 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNRNP200 33 34
  • 99.77 (n)
oppossum
(Monodelphis domestica)
Mammalia SNRNP200 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNRNP200 33
  • 92.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Snrnp200 33 16 34
  • 90.89 (n)
rat
(Rattus norvegicus)
Mammalia Snrnp200 33
  • 90.7 (n)
cow
(Bos Taurus)
Mammalia SNRNP200 33 34
  • 90.42 (n)
chicken
(Gallus gallus)
Aves SNRNP200 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNRNP200 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snrnp200 33
  • 80.17 (n)
Str.1682 33
zebrafish
(Danio rerio)
Actinopterygii snrnp200 33 34
  • 78.64 (n)
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001519 33
  • 68.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(3)72Ab 33 34
  • 68.53 (n)
worm
(Caenorhabditis elegans)
Secernentea snrp-200 33 34
  • 60.58 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR113W 33
  • 48.6 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BRR2 33 34 36
  • 47.55 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17798g 33
  • 47.25 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons emb1507 33
  • 59.55 (n)
soybean
(Glycine max)
eudicotyledons Gma.7556 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7050 33
bread mold
(Neurospora crassa)
Ascomycetes NCU02685 33
  • 58.24 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes brr2 33
  • 52.87 (n)
Species where no ortholog for SNRNP200 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNRNP200 Gene

ENSEMBL:
Gene Tree for SNRNP200 (if available)
TreeFam:
Gene Tree for SNRNP200 (if available)

Paralogs for SNRNP200 Gene

Paralogs for SNRNP200 Gene

(2) SIMAP similar genes for SNRNP200 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for SNRNP200 Gene

genes like me logo Genes that share paralogs with SNRNP200: view

Variants for SNRNP200 Gene

Sequence variations from dbSNP and Humsavar for SNRNP200 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs113877776 likely-benign, Retinitis Pigmentosa, Dominant 96,303,341(-) T/A/C intron_variant
rs117673613 likely-benign, Retinitis Pigmentosa, Dominant 96,305,518(-) G/A 5_prime_UTR_variant
rs138291954 uncertain-significance, Retinitis Pigmentosa, Dominant 96,301,708(-) A/G coding_sequence_variant, synonymous_variant
rs138686895 uncertain-significance, Retinal dystrophy 96,289,860(-) G/A/C coding_sequence_variant, missense_variant
rs139137932 uncertain-significance, Retinitis Pigmentosa, Dominant 96,278,626(-) G/A coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for SNRNP200 Gene

Variant ID Type Subtype PubMed ID
nsv834305 CNV gain 17160897
nsv508155 CNV deletion 20534489
nsv1135873 CNV deletion 24896259
esv5003 OTHER complex 18987735
esv3591652 OTHER inversion 21293372
esv3425717 CNV duplication 20981092
dgv607e201 CNV deletion 23290073

Variation tolerance for SNRNP200 Gene

Residual Variation Intolerance Score: 0.404% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.90; 48.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNRNP200 Gene

Human Gene Mutation Database (HGMD)
SNRNP200
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNRNP200

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNRNP200 Gene

Disorders for SNRNP200 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SNRNP200 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 33
  • rp33
retinitis pigmentosa
  • rp
rhyns syndrome
  • retinitis pigmentosa syndrome
retinitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

U520_HUMAN
  • Retinitis pigmentosa 33 (RP33) [MIM:610359]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:16723661, ECO:0000269 PubMed:19710410, ECO:0000269 PubMed:19878916, ECO:0000269 PubMed:21618346, ECO:0000269 PubMed:23029027, ECO:0000269 PubMed:23045696, ECO:0000269 PubMed:23887765, ECO:0000269 PubMed:24319334}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SNRNP200

genes like me logo Genes that share disorders with SNRNP200: view

No data available for Genatlas for SNRNP200 Gene

Publications for SNRNP200 Gene

  1. The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro. (PMID: 9539711) Laggerbauer B … Lührmann R (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 22 58
  2. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. (PMID: 19878916) Zhao C … Larsson C (American journal of human genetics 2009) 2 3 4 58
  3. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  4. The HeLa 200 kDa U5 snRNP-specific protein and its homologue in Saccharomyces cerevisiae are members of the DEXH-box protein family of putative RNA helicases. (PMID: 8670905) Lauber J … Luhrmann R (The EMBO journal 1996) 2 3 4 58
  5. Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. (PMID: 24319334) Bowne SJ … Daiger SP (Molecular vision 2013) 3 4 58

Products for SNRNP200 Gene

Sources for SNRNP200 Gene

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