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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 61
  • 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 mRNA Splicing - Major Pathway and Gene Expression. 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

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

Genomics for SNRNP200 Gene

Regulatory Elements for SNRNP200 Gene

Enhancers for SNRNP200 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G096263 1.4 ENCODE dbSUPER 30.8 +39.7 39709 3.8 HNRNPUL1 HDGF PKNOX1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SNRNP200 CIAO1 LOC105373495 ITPRIPL1 NCAPH ASTL DUSP2 KCNIP3 TMEM127 GC02M096255
GH02G096245 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.7 +59.1 59087 2.6 HDGF ATF1 NFRKB ZNF366 FOS EGR2 ELF4 ELF1 ZNF592 MEF2D SNRNP200 GPAT2 TMEM127 ARID5A KCNIP3 KANSL3 DUSP2 GC02M096251 PIR52980
GH02G096108 1 Ensembl ENCODE 18 +196.5 196487 1.9 CTCF PKNOX1 USF1 IRF2 RBBP5 RAD21 EED SCRT2 NR2F6 RELB SNRNP200 GPAT2 ASTL DUSP2 CIAO1 GC02P096109 LOC105373494
GH02G096150 1 dbSUPER 16.2 +154.3 154334 1.4 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 KLF13 NFYC MXD4 ZHX2 GPAT2 SNRNP200 ZNF514 ADRA2B SEMA4C ENSG00000228873 GC02P096183
GH02G096340 1.2 Ensembl ENCODE 12.3 -37.1 -37132 5.1 HDGF FOXA2 ATF1 ARNT WRNIP1 ZNF121 GATA2 FOS JUNB TBX21 CIAO1 SNRNP200 LOC105373495 ASTL NCAPH PIR33612
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SNRNP200 on UCSC Golden Path with GeneCards custom track

Promoters for SNRNP200 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000120254 69 1401 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for SNRNP200 Gene

Chromosome:
2
Start:
96,274,336 bp from pter
End:
96,305,569 bp from pter
Size:
31,234 bases
Orientation:
Minus strand

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, isoforms=2469, Lys479, Lys557, isoforms=770, isoforms=1039, isoforms=1421, isoforms=1431, Lys1544, and Lys1961
  • Modification sites at PhosphoSitePlus

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

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 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

CRISPR Products

Inhibitory RNA 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

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 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 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
Adenosine triphosphate Approved Nutra 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:

CRISPR Products

Inhibitory RNA Products

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
Organs:
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

Primer Products

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 34 35
  • 99.77 (n)
oppossum
(Monodelphis domestica)
Mammalia SNRNP200 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNRNP200 34
  • 92.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Snrnp200 34 16 35
  • 90.89 (n)
rat
(Rattus norvegicus)
Mammalia Snrnp200 34
  • 90.7 (n)
cow
(Bos Taurus)
Mammalia SNRNP200 34 35
  • 90.42 (n)
chicken
(Gallus gallus)
Aves SNRNP200 35
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNRNP200 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snrnp200 34
  • 80.17 (n)
Str.1682 34
zebrafish
(Danio rerio)
Actinopterygii snrnp200 34 35
  • 78.64 (n)
-- 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001519 34
  • 68.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(3)72Ab 34 35
  • 68.53 (n)
worm
(Caenorhabditis elegans)
Secernentea snrp-200 35 34
  • 60.58 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR113W 34
  • 48.6 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BRR2 34 35 37
  • 47.55 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17798g 34
  • 47.25 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons emb1507 34
  • 59.55 (n)
soybean
(Glycine max)
eudicotyledons Gma.7556 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7050 34
bread mold
(Neurospora crassa)
Ascomycetes NCU02685 34
  • 58.24 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes brr2 34
  • 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 Sequence Context AA Info Type
rs267607077 Pathogenic, Retinitis pigmentosa 33 (RP33) [MIM:610359] 96,287,968(-) TTAGT(C/T)GGCTG reference, missense
rs397514574 Pathogenic, Retinitis pigmentosa 33 (RP33) [MIM:610359] 96,287,959(-) TGGCC(A/G/T)GTTGA reference, missense
rs397514575 Pathogenic, Retinitis pigmentosa 33 (RP33) [MIM:610359] 96,290,415(-) TCAAT(C/G)AACAA reference, missense
rs527236113 Pathogenic, Retinitis pigmentosa 33 (RP33) [MIM:610359] 96,293,090(-) CTTCC(A/G)TCCAG reference, missense
rs527236114 Pathogenic, Retinitis pigmentosa 33 (RP33) [MIM:610359] 96,293,085(-) GTCCA(G/T)TGCCT reference, missense

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

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

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)

Relevant External Links 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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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.

Relevant External Links for SNRNP200

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. … Luehrmann R. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 22 64
  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. (Am. J. Hum. Genet. 2009) 2 3 4 64
  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 Res. 1998) 2 3 4 64
  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. … Luehrmann R. (EMBO J. 1996) 2 3 4 64
  5. Contribution of SNRNP200 sequence variations to retinitis pigmentosa. (PMID: 23887765) Zhang X. … Chen L.J. (Eye (Lond) 2013) 3 4 64

Products for SNRNP200 Gene

Sources for SNRNP200 Gene

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