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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SNRNP200 Gene

protein-coding GIFtS: 59
GCID: GC02M096940

small nuclear ribonucleoprotein 200kDa (U5)

(Previous names: activating signal cointegrator 1 complex subunit 3-like...)
(Previous symbols: ASCC3L1, RP33)

Explore 9 diseases affiliated with
SNRNP200 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Small Nuclear Ribonucleoprotein 200kDa (U5)¹ ²		BRR2¹ ²
ASCC3L1¹ ² ³ ⁵		BRR2 Homolog² ³
Activating Signal Cointegrator 1 Complex Subunit 3-Like 1¹ ² ³		U5 SnRNP-Specific 200 KDa Protein² ³
HELIC2¹ ² ³		Retinitis Pigmentosa 33 (Autosomal Dominant)¹
U5-200KD¹ ² ³		U5 Small Nuclear Ribonucleoprotein 200 KDa Helicase²
RP33¹ ² ⁵		EC 3.6.4.13³
KIAA0788¹ ³ ⁵		EC 3.6.1⁸

External Ids:	HGNC: 30859¹	Entrez Gene: 23020²	Ensembl: ENSG00000144028⁷	OMIM: 601664⁵	UniProtKB: O75643³

Export aliases for SNRNP200 gene to outside databases

Previous GC identifers: GC02M096304 GC02M090901

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SNRNP200:

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)

UniProtKB/Swiss-Prot: U520_HUMAN, O75643

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

Gene Wiki entry for SNRNP200 (ASCC3L1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022171.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SNRNP200 gene promoter:
Oct-B1 Elk-1 oct-B3 oct-B2 Nkx5-1 Evi-1 Arnt SRY POU2F1 POU2F1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SNRNP200 promoter sequence

Search SABiosciences Chromatin IP Primers for SNRNP200

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNRNP200

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q11.2 Ensembl cytogenetic band: 2q11.2 HGNC cytogenetic band: 2q11.2

SNRNP200 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNRNP200 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M096940: view genomic region (about GC identifiers)

Start:	96,940,074 bp from pter	End:	96,971,297 bp from pter
Size:	31,224 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: U520_HUMAN, O75643 (See protein sequence)

Recommended Name: U5 small nuclear ribonucleoprotein 200 kDa helicase

Size: 2136 amino acids; 244508 Da

Subunit: 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, NHP2L1, EFTUD2, SART1 and USP39. Identified in the spliceosome C complex

Subcellular location: Nucleus

Sequence caution: Sequence=BAB14906.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

4 PDB 3D structures from and Proteopedia for SNRNP200:

2Q0Z (3D)

4F91 (3D)

4F92 (3D)

4F93 (3D)

Secondary accessions: O94884 Q6NZY0 Q6PX59 Q8NBE6 Q96IF2 Q9H7S0

Alternative splicing: 2 isoforms: O75643-1 O75643-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SNRNP200: NX_O75643

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75643

4/6 DME Specific Peptides for SNRNP200 (O75643) (see all 6)

GAIQVVV

TLAWGVN

QNPNYYNL

APTGSGKT

SNRNP200 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_054733.2

ENSEMBL proteins:

ENSP00000317123 ENSP00000387870 ENSP00000326937

Reactome Protein details: O75643
Human Recombinant Protein Products:

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	Uscn Proteins for SNRNP200

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005681	spliceosomal complex	IDA	8670905
GO:0005682	U5 snRNP	IDA	9539711
GO:0005730	NOT nucleolus	IDA	--

SNRNP200 for ontologies About GeneDecksing

SNRNP200 Antibody Products:

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	Uscn ELISAs and CLIAs for SNRNP200

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SNRNP200 for domains About GeneDecksing

5 InterPro domains/families:

IPR011545 DNA/RNA_helicase_DEAD/DEAH_N

IPR003593 AAA+_ATPase

IPR004179 Sec63-dom

IPR014001 Helicase_ATP-bd

IPR001650 Helicase_C

Graphical View of Domain Structure for InterPro Entry O75643

ProtoNet protein and cluster: O75643

1 Blocks protein family: IPB004179 Sec63 domain

UniProtKB/Swiss-Prot: U520_HUMAN, O75643

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

Similarity: Belongs to the helicase family. SKI2 subfamily

Similarity: Contains 2 helicase ATP-binding domains

Similarity: Contains 2 helicase C-terminal domains

Similarity: Contains 2 SEC63 domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: U520_HUMAN, O75643

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

Catalytic activity: ATP + H(2)O = ADP + phosphate

Enzyme Numbers (IUBMB): EC 3.6.1² EC 3.6.4.13¹

miRNA Products:		OriGene 3'-UTR Clone: SNRNP200 Browse MicroRNA Expression Plasmids
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		1 QIAGEN miScript miRNA Assays for microRNA that regulate SNRNP200:
		hsa-miR-3673
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRNP200

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003676	nucleic acid binding	IEA	--
GO:0004386	helicase activity	--	--
GO:0005515	protein binding	IPI	18951082
GO:0005524	ATP binding	IEA	--
GO:0008026	ATP-dependent helicase activity	IDA	9539711

SNRNP200 for ontologies About GeneDecksing

5 GenomeRNAi human phenotypes for SNRNP200:

Decreased homologous recombina	Decreased viability	Decreased viability of wild-ty	Synthetic lethal with Ras
Upregulation of Wnt/beta-caten

Animal Models:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Snrnp200):

mortality/aging

SNRNP200 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

mRNA Splicing - Major Pathway

mRNA Splicing	1.00	mRNA Processing	0.82
mRNA Splicing - Major Pathway	1.00	mRNA Splicing - Minor Pathway	0.40
Processing of Capped Intron-Containing Pre-mRNA	0.96	Spliceosome	0.31

Generic Transcription Pathway

Gene Expression

0.46

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 Reactome Pathways for SNRNP200 (see all 6)

	mRNA Splicing - Major Pathway
	mRNA Splicing
	Gene Expression
	mRNA Processing
	mRNA Splicing - Minor Pathway

1 Kegg Pathway (Kegg details for SNRNP200):

Spliceosome

SNRNP200 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SNRNP200

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/1040 Interacting proteins for SNRNP200 (O75643^{2, 3} ENSP00000317123⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 1040)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRPF8	Q6P2Q9²^,³, ENSP00000304350⁴	MINT-7945693 MINT-7947479 MINT-8395092 I2D: score=6 STRING: ENSP00000304350
SF3B1	O75533²^,³, ENSP00000335321⁴	MINT-7945693 MINT-7947479 MINT-6488791 I2D: score=2 STRING: ENSP00000335321
PRPF6	O94906²^,³, ENSP00000266079⁴	MINT-7945693 MINT-7947479 I2D: score=6 STRING: ENSP00000266079
SNRPD3	P62318²^,³, ENSP00000215829⁴	MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000215829
PLRG1	O43660²^,³, ENSP00000303191⁴	MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000303191

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

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:0008380	RNA splicing	TAS	--
GO:0010467	gene expression	TAS	--

SNRNP200 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SNRNP200
Search CenterWatch for drugs/clinical trials and news about SNRNP200 / U520

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SNRNP200 gene:

NM_014014.4

Unigene Cluster for SNRNP200:

Small nuclear ribonucleoprotein 200kDa (U5)

Hs.246112 [show with all ESTs]

Unigene Representative Sequence: NM_014014

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000323853(uc002svt.3 uc010yuj.2 uc002svu.3) ENST00000497539

ENST00000429650 ENST00000480835 ENST00000484372 ENST00000493271 ENST00000480242(uc002svv.1)

ENST00000480615 ENST00000349783

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		1 QIAGEN miScript miRNA Assays for microRNA that regulate SNRNP200:
		hsa-miR-3673
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: SNRNP200 (NM_014014)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SNRNP200
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNRNP200

Additional cDNA sequence:

AB018331.2 AF119874.1 AJ844618.1 AK023840.1 AK024391.1 AK026662.1 AK303465.1 AK303663.1

AL831994.1 AY572488.1 BC001417.2 BC007577.1 BC065924.1 BC112891.1

24/27 DOTS entries (see all 27):

DT.75154158 DT.75174721 DT.100819031 DT.85104902 DT.95363717 DT.95132827 DT.100729402 DT.97864779

DT.40195578 DT.100819021 DT.120954363 DT.100707955 DT.91897724 DT.100819018 DT.95079618 DT.100761567

DT.100819022 DT.100819024 DT.120903735 DT.120954418 DT.220126 DT.91776891 DT.91776903 DT.92414091

24/848 AceView cDNA sequences (see all 848):

BQ951368 BG425068 BM705953 BC065924 AL041341 AI589831 AL043088 NM_014014

BE350726 BM849356 BU628482 CR614576 BU553451 BG289879 BU186735 BU167969

T30305 CB122657 BP351978 BQ773918 BU160675 CB069716 AW501311 AA122415

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for SNRNP200 (see all 10) About this scheme

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:

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:

ExUns:	40	^	41	^	42	^	43	^	44a	·	44b	^	45
SP1:
SP2:	-		-		-		-		-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for SNRNP200

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SNRNP200 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTCCTGGTAG

About this image
See SNRNP200 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SNRNP200

SOURCE GeneReport for Unigene cluster: Hs.246112

UniProtKB/Swiss-Prot: U520_HUMAN, O75643

Tissue specificity: Widely expressed

SABiosciences Custom PCR Arrays for SNRNP200

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNRNP200

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRNP200

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SNRNP200 gene from 9/39 species (see all 39) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	-- -- (see all 5)	--	99(a) 99(a) (see all 5)	1 ↔ many 1 ↔ many (see all 5)	Un(8424960-8427673) Un(8425114-8426177)
lizard (Anolis carolinensis)	Reptilia	SNRNP200⁶	--	97(a)	1 ↔ 1	GL343858.1(95003-137078)
African clawed frog (Xenopus laevis)	Amphibia	BG348161.1²	--	81.45(n)		BG348161.1
zebrafish (Danio rerio)	Actinopterygii	BI704412.1²	--	81.1(n)		322497 BI704412.1
fruit fly (Drosophila melanogaster)	Insecta	l(3)72Ab¹	lethal (3) 72Ab	68.55(n) 75(a)		39737 NM_140561.3 NP_648818.3
worm (Caenorhabditis elegans)	Secernentea	snrp-200¹	Protein SNRP-200	60.55(n) 61.65(a)		174901 NM_064309.2 NP_496710.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	BRR2(YER172C)⁴ BRR2¹	RNA-dependent ATPase RNA helicase (DEIH box); required more⁴ Brr2p¹	47.52(n)¹ 41.59(a)¹		5(536021-529530)⁴ 856919^{1, 4} NP_011099.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	emb1507¹	putative U5 small nuclear ribonucleoprotein helicase	59.54(n) 58.72(a)		838690 NM_001198121.1 NP_001185050.1
rice (Oryza sativa)	Liliopsida	AK059539.1²	--	73.84(n)		AK059539.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SNRNP200 gene

HELQ² ASCC3² POLQ²

2 SIMAP similar genes for SNRNP200 using alignment to 6 protein entries: U520_HUMAN (see all proteins):

ASCC3L1 ASCC3

SNRNP200 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SNRNP200
PGOHUM00000237479

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113490998^1,2	F	--	90902049(+)	`TTTATG/ACTTGA`	1	--	ut3¹		1		CSA	4
rs3214064^1,2	C,F,	--	90902147(-)	`GGCCTC/TAGGTC`	1	--	ut3¹ ese³		1		EA	1500
rs61753580^1,2	C,F	--	90902289(+)	`TCCACG/ACTGAA`	2	/S	syn¹		2		NS NA	4586
rs113657010^1,2		--	90902966(+)	`GGCGCA/GGTGGC`	1	--	int¹		0	--	--	--	--
rs10179191^1,2	C,	--	90903127(+)	`tcccaA/Gctact`	1	--	int¹		0	--	--	--	--
rs10203981^1,2	C,H	--	90903628(+)	`ACTGAC/GGGGTT`	1	--	int¹		4		NS EA	420
rs11682009^1,2	H	--	90903787(+)	`gagtaA/Gctggg`	1	--	int¹		0	--	--	--	--
rs11891575^1,2	H	--	90903841(+)	`tagtaA/Gagacg`	1	--	int¹		0	--	--	--	--
rs113848508^1,2	C	--	90905471(+)	`CCTCAA/C/GCTGCC`	1	--	spd¹		1		CSA	1
rs72937668^1,2	C,	--	90905700(+)	`AACACG/AGGCGC`	1	--	int¹		2		WA	120

HapMap Linkage Disequilibrium report for SNRNP200 (96940074 - 96971297 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SNRNP200
1 CNV: 4300
Human Gene Mutation Database (HGMD): SNRNP200

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SNRNP200 for disorders           About GeneDecksing

OMIM gene information: 601664
OMIM disorders: 610359
UniProtKB/Swiss-Prot: U520_HUMAN, O75643

Defects in SNRNP200 are the cause of retinitis pigmentosa type 33 (RP33) [MIM:610359]. It is 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

9 diseases for SNRNP200: About MalaCards

retinitis pigmentosa retinitis pigmentosa 33 retinitis pigmentary retinopathy

blindness myeloma tuberculosis malaria

mycobacterium tuberculosis

1 disease from the University of Copenhagen DISEASES database for SNRNP200:

Retinitis pigmentosa

Export disorders for SNRNP200 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SNRNP200 gene, integrated from 9 sources (see all 84):
(articles sorted by number of sources associating them with SNRNP200)

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The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro. (PubMed id 9539711)^{1, 2, 3, 9} Laggerbauer B.... Luehrmann R. (1998)
Autosomal-dominant retinitis pigmentosa caused by a m utation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. (PubMed id 19878916)^{1, 2, 3} Zhao C....Larsson C. (2009)
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. (PubMed id 9872452)^{1, 2, 3} Nagase T.... Ohara O. (1998)
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. (PubMed id 8670905)^{1, 2, 3} Lauber J....Luehrmann R. (1996)
Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome. (PubMed id 23045696)^{1, 2} Santos K.F.... Wahl M.C. (2012)
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. (PubMed id 21618346)^{1, 2} Benaglio P....Rivolta C. (2011)
Mutations in ASCC3L1 on 2q11.2 are associated with au tosomal dominant retinitis pigmentosa in a Chinese family. (PubMed id 19710410)^{1, 2} Li N....Hejtmancik J.F. (2010)
A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1. (PubMed id 16612614)^{1, 3} Zhao C....Larsson C. (2006)
The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. (PubMed id 16723661)^{1, 2} Liu S.... Luehrmann R. (2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 23020	HGNC: 30859	AceView: ASCC3L1	Ensembl:ENSG00000144028	euGenes: HUgn23020
ECgene: SNRNP200	Kegg: 23020	H-InvDB: SNRNP200

(According to HUGE)
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HUGE: KIAA0788

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SNRNP200	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SNRNP200 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SNRNP200 gene:
Search GeneIP for patents involving SNRNP200

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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SNRNP200 Gene

small nuclear ribonucleoprotein 200kDa (U5)

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SNRNP200 Gene

small nuclear ribonucleoprotein 200kDa (U5)

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