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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-spe... See more...
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
- U5-200KD 2 3 4
- HELIC2 2 3 4
- U5 Small Nuclear Ribonucleoprotein 200 KDa Helicase 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
- KIAA0788 2 4
External Ids for SNRNP200 Gene
- HGNC: 30859
- Entrez Gene: 23020
- Ensembl: ENSG00000144028
- OMIM: 601664
- UniProtKB: O75643
Previous HGNC Symbols for SNRNP200 Gene
- ASCC3L1
- RP33
Previous GeneCards Identifiers for SNRNP200 Gene
- GC02M096304
- GC02M096940
- GC02M090901
Summaries 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 - Minor Pathway and Gene Expression. 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 Summary for SNRNP200 Gene
-
Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154). 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.
Additional gene information for SNRNP200 Gene
- HGNC(30859)
- Entrez Gene(23020)
- Ensembl(ENSG00000144028)
- OMIM(601664)
- UniProtKB(O75643)
- Open Targets Platform(ENSG00000144028)
- Monarch Initiative
- Search for SNRNP200 at DataMed
- Search for SNRNP200 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNRNP200 Gene
Genomics for SNRNP200 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SNRNP200 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SNRNP200 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNRNP200
- Top Transcription factor binding sites by QIAGEN in the SNRNP200 gene promoter:
-
- Arnt
- Elk-1
- Evi-1
- Nkx5-1
- Oct-B1
- oct-B2
- oct-B3
- POU2F1
- POU2F1a
- SRY
Genomic Locations for SNRNP200 Gene
Genomic Locations for SNRNP200 Gene
- chr2:96,274,338-96,321,271
- (GRCh38/hg38)
- Size:
- 46,934 bases
- Orientation:
- Minus strand
- chr2:96,940,074-96,971,307
- (GRCh37/hg19)
- 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:
-
- 2q11.2 by HGNC
- 2q11.2 by Entrez Gene
- 2q11.2 by Ensembl
SNRNP200 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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 U5 snRNP and U4/U6-U5 tri-snRNP complexes, building blocks of the spliceosome. 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 (PubMed:16723661, PubMed:8670905, PubMed:26912367). Component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154).
- SequenceCaution:
-
- Sequence=BAB14906.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for SNRNP200 Gene
Protein Expression for SNRNP200 Gene
Selected DME Specific Peptides for SNRNP200 Gene
- O75643:
-
- TLAWGVN
- QNPNYYNL
- APTGSGKT
- GAIQVVV
- LLLQAHLSR
- FNPIQTQVF
Post-translational modifications for SNRNP200 Gene
Other Protein References for SNRNP200 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SNRNP200
- Invitrogen Antibodies for SNRNP200 (AFLGC-SNRNP200)
-
Santa Cruz Biotechnology (SCBT) Antibodies for SNRNP200
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SNRNP200
- Origene Custom Protein Services for SNRNP200
- Novus Biologicals proteins for SNRNP200
Domains & Families for SNRNP200 Gene
Gene Families for SNRNP200 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for SNRNP200 Gene
- InterPro:
- Blocks:
-
- Sec63 domain
- ProtoNet:
Suggested Antigen Peptide Sequences for SNRNP200 Gene
- GenScript: Design optimal peptide antigens:
-
- SNRNP200 protein (A4FU77_HUMAN)
- cDNA FLJ56901, highly similar to U5 small nuclear ribonucleoprotein 200 kDa helicase (EC 3.6.1.-) (B4E0P5_HUMAN)
- Activating signal cointegrator 1 complex subunit 3-like 1 (Q5ZF01_HUMAN)
- SNRNP200 protein (Q7L5W4_HUMAN)
- U5 snRNP-specific 200 kDa protein (U520_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O75643UniProtKB/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.
Function for SNRNP200 Gene
Molecular function for SNRNP200 Gene
- UniProtKB/Swiss-Prot Function:
- Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154). 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence={ECO:0000269|PubMed:23045696};.
Enzyme Numbers (IUBMB) for SNRNP200 Gene
Phenotypes From GWAS Catalog for SNRNP200 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | IBA | 21873635 |
| GO:0003724 | RNA helicase activity | IBA,IDA | 23045696 |
| GO:0004386 | helicase activity | IDA | 9539711 |
Phenotypes for SNRNP200 Gene
- MGI mutant phenotypes for SNRNP200:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SNRNP200:
-
- no effect
- Decreased centriole number
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased viability of wild-type and TP53 knockout cells
- Synthetic lethal with Ras
- shRNA abundance <= 25%
- FOXO1 nuclear localization
- Decreased Sindbis virus (SINV) infection
- Inconclusive
- Increased Nanog expression
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased homologous recombination repair frequency
- Upregulation of Wnt pathway
- Decreased ionizing radiation sensitivity
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Downregulation of RLR pathway after Sendai virus (SeV) infection
- Increased mitotic delay (prometaphase or metaphase alignment problems, MAP), many micronuclei (grape)
Animal Models for SNRNP200 Gene
- MGI Knock Outs for SNRNP200:
-
- Snrnp200 Snrnp200<tm1b(KOMP)Mbp>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SNRNP200 - Select products 50% OFF >
- * SNRNP200 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SNRNP200
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SNRNP200
-
Santa Cruz Biotechnology (SCBT) CRISPR for SNRNP200
miRNA for SNRNP200 Gene
- miRTarBase miRNAs that target SNRNP200
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SNRNP200
- Browse OriGene Inhibitory RNA Products For SNRNP200
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNRNP200
Clone Products
- Applied Biological Materials (abm): Clones for SNRNP200 - Select products 50% OFF >
- * SNRNP200 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SNRNP200
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SNRNP200
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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| peroxisome | 0 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA,IDA | 22720776 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005681 | spliceosomal complex | IBA,IDA | 8670905 |
| GO:0005682 | U5 snRNP | IDA | 9539711 |
| GO:0016020 | membrane | HDA | 16210410 |
Pathways & Interactions for SNRNP200 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | mRNA Splicing - Major Pathway |
.79
|
.47
|
| 2 | Gene Expression |
.48
|
|
| 3 | mRNA Splicing - Minor Pathway | ||
Pathways by source for SNRNP200 Gene
5 Reactome pathways for SNRNP200 Gene
1 KEGG pathway for SNRNP200 Gene
Interacting Proteins for SNRNP200 Gene
Selected Interacting proteins:
O75643-U520_HUMAN
ENSP00000317123
for SNRNP200 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SNRNP200
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000354 | cis assembly of pre-catalytic spliceosome | IC | 9539711 |
| GO:0000388 | spliceosome conformational change to release U4 (or U4atac) and U1 (or U11) | IBA | 21873635 |
| GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
| GO:0001649 | osteoblast differentiation | HDA | 16210410 |
| GO:0006397 | mRNA processing | IEA | -- |
No data available for SIGNOR curated interactions for SNRNP200 Gene
Drugs & Compounds for SNRNP200 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
Transcripts for SNRNP200 Gene
mRNA/cDNA for SNRNP200 Gene
- 1 REFSEQ mRNAs :
- 23 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000323853 7194 nts (view in UCSC)
- ENST00000429650 2637 nts (view in UCSC)
- ENST00000480242 3409 nts (view in UCSC)
- ENST00000480615 1646 nts (view in UCSC)
- ENST00000480835 540 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SNRNP200 - Select products 50% OFF >
- * SNRNP200 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SNRNP200
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SNRNP200
-
Santa Cruz Biotechnology (SCBT) CRISPR for SNRNP200
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SNRNP200
- Browse OriGene Inhibitory RNA Products For SNRNP200
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNRNP200
Clone Products
- Applied Biological Materials (abm): Clones for SNRNP200 - Select products 50% OFF >
- * SNRNP200 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SNRNP200
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SNRNP200
| 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
Expression for SNRNP200 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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, MaxQB, and MOPED for SNRNP200 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SNRNP200
SOURCE GeneReport for Unigene cluster for SNRNP200 Gene:
Hs.246112mRNA 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(4.8)
- Blood(4.6)
- Eye(4.5)
- Liver(4.5)
- Lung(4)
- Heart(3.9)
- Intestine(3.5)
- Adrenal gland(3.1)
- Kidney(2.6)
- Muscle(2.3)
- 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
Primer Products
-
OriGene qPCR primer pairs for SNRNP200
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SNRNP200 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SNRNP200 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SNRNP200 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Snrnp200 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Snrnp200 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | SNRNP200 30 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SNRNP200 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SNRNP200 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | snrnp200 30 |
|
||
| Str.1682 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | snrnp200 30 31 |
|
OneToOne | |
| -- 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001519 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | l(3)72Ab 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | snrp-200 30 31 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGR113W 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BRR2 30 31 33 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C17798g 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | emb1507 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.7050 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.7556 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU02685 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | brr2 30 |
|
- 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for SNRNP200: view image
Paralogs for SNRNP200 Gene
(2) SIMAP similar genes for SNRNP200 Gene using alignment to 6 proteins:
- U520_HUMAN
- A2RRQ7_HUMAN
- A4FU77_HUMAN
- B4E0P5_HUMAN
- C9JAQ9_HUMAN
- Q7L5W4_HUMAN
Pseudogenes.org Pseudogenes for SNRNP200 Gene
Variants for SNRNP200 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNRNP200 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636112 | Pathogenic/Likely Pathogenic: Retinitis pigmentosa; Retinitis pigmentosa 33; not provided | 96,293,091(-) | G/A | MISSENSE_VARIANT | |
| 636204 | Uncertain Significance: Stargardt disease | 96,303,335(-) | T/C | INTRON_VARIANT | |
| 708359 | Likely Benign: not provided | 96,299,362(-) | G/A | SYNONYMOUS_VARIANT | |
| 708634 | Benign/Likely Benign: Retinitis pigmentosa; not provided | 96,304,824(-) | C/G | SYNONYMOUS_VARIANT | |
| 712355 | Benign: not provided | 96,286,438(-) | C/T | SYNONYMOUS_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNRNP200 Gene
Disorders for SNRNP200 Gene
(16) MalaCards diseases for SNRNP200 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| retinitis pigmentosa 33 |
|
|
| retinitis pigmentosa |
|
|
| fundus dystrophy |
|
|
| inherited retinal disorder |
|
|
| retinitis |
|
|
Search SNRNP200 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for SNRNP200 Gene
Publications for SNRNP200 Gene
- 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 23
- 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
- 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
- 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
- Structure and Conformational Dynamics of the Human Spliceosomal Bact Complex. (PMID: 29361316) Haselbach D … Stark H (Cell 2018) 3 4
ExternalLinks
Products for SNRNP200 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SNRNP200
- Origene Custom Protein Services for SNRNP200
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SNRNP200
- Browse OriGene Inhibitory RNA Products For SNRNP200
- OriGene qPCR primer pairs for SNRNP200
- OriGene CRISPR knockouts for SNRNP200
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SNRNP200
- Sino Biological Human cDNA Clone for SNRNP200
- Browse Sino Biological Recombinant Proteins
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- High-throughput Antibody Production Service
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- Novus Biologicals Antibodies for SNRNP200
- Novus Biologicals proteins for SNRNP200
- Browse Antibodies
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- Invitrogen Antibodies for SNRNP200 (AFLGC-SNRNP200)
- VectorBuilder Custom and pre-made DNA vectors for SNRNP200 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SNRNP200 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SNRNP200 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SNRNP200 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SNRNP200
- antibodies-online: Show 4 available SNRNP200 Antibodies ranked by validation data
- Compare Top SNRNP200 Antibodies
- antibodies-online: Search results for available SNRNP200 related products ranked by validation data
- antibodies-online: Search results for available SNRNP200 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for SNRNP200
- Search Santa Cruz Biotechnology (SCBT) for SNRNP200 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SNRNP200
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SNRNP200
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SNRNP200
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SNRNP200
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNRNP200
Sources for SNRNP200 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
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- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
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- (38) dbSNP
- (39) GenAtlas
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- (43) HuGE
- (44) Atlas
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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- (77) ESI-BIO
- (78) RefSeq
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- (89) antibodies-online
- (90) CYP
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- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
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- (100) DGIdb
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- (104) diseasecard
- (105) NIH Rare Diseases
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