SNRNP200 - small nuclear ribonucleoprotein U5 subunit 200 Gene

Homo sapiens

Also known as BRR2; RP33; HELIC2; ASCC3L1; U5-200KD

Gene ID: 23020 | Gene type: protein coding

About SNRNP200

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:96,274,338-96,305,546 (from NCBI)

This gene has 9 transcripts (splice variants), 215 orthologues, 8 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 33.5), ovary (RPKM 29.9) and 25 other tissues.

Summary

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]

SNRNP200 Products(1)

mRNA	Protein	Name
NM_014014.5	NP_054733.2	U5 small nuclear ribonucleoprotein 200 kDa helicase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA helicase activity	IDA IDA: Inferred from direct assay	23045696	GOA
enables helicase activity	IDA IDA: Inferred from direct assay	9539711	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	22365833	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9774689	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	8670905	GOA
involved in spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	IDA IDA: Inferred from direct assay	35241646	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of U2-type catalytic step 1 spliceosome	IDA IDA: Inferred from direct assay	29301961	GOA
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	29361316	GOA
part of U4/U6 x U5 tri-snRNP complex	IDA IDA: Inferred from direct assay	23793891	GOA
part of U4/U6 x U5 tri-snRNP complex	IPI IPI: Inferred from physical interaction	30975767	GOA
part of U5 snRNP	IDA IDA: Inferred from direct assay	9539711	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22720776	GOA
part of spliceosomal complex	IDA IDA: Inferred from direct assay	8670905	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNRNP200 Protein Structure

DEAD

Helicase_C

Sec63

DEAD

Helicase_C

Sec63

0
400
800
1200
1600
2000
2136 a.a.

Protein Preferred Names

Protein Names

U5 small nuclear ribonucleoprotein 200 kDa helicase

BRR2 homolog

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 33

RP33	Retinitis Pigmentosa, Type 33

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis

Retinitis Pigmentosa 57

RP57	Pde6g-Related Retinitis Pigmentosa
Retinitis Pigmentosa, Type 57

Retinitis Pigmentosa 13

RP13	Retinitis Pigmentosa-13
Retinitis Pigmentosa, Type 13

Mandibulofacial Dysostosis, Guion-Almeida Type

Mandibulofacial Dysostosis With Microcephaly	Mandibulofacial Dysostosis-Microcephaly Syndrome
MFDGA	MFDM
Mfdm Syndrome	Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate
Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate	Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome
Dysostosis, Mandibulofacial, Guion-Almeida Type

Cold-Induced Sweating Syndrome 3

Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome	Syndromic Diarrhea
Tricho-Hepato-Enteric Syndrome	Sd/The
Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome	THES1
Phenotypic Diarrhea	Thes
Phenotypic Diarrhea Of Infancy	Diarrhea, Syndromic
Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa	Intractable Diarrhea With Phenotypic Anomalies
Syndromatic Diarrhea	Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Taybi-Linder Syndrome	Brachymelic Primordial Dwarfism
Cephaloskeletal Dysplasia	Low-Birth-Weight Dwarfism With Skeletal Dysplasia
Microcephalic Osteodysplastic Primordial Dwarfism Type I	Osteodysplastic Primordial Dwarfism Type I
Primordial Microcephalic Dwarfism, Crachami Type	Osteodysplastic Primordial Dwarfism, Type 1
MOPD1	Mopd I
Mopd	Osteodysplastic Primordial Dwarfism, Type I
Tals	Microcephalic Osteodysplastic Primordial Dwarfism Type 1
Mopd 1	Microcephalic Osteodysplastic Primordial Dwarfism Types 1 And 3
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Mopd Types I And Iii
Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type	Primordial Microcephalic Dwarfism Crachami Type
Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1

Eye Degenerative Disease

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13496	SNRNP200 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SNRNP200	VGNC	VGNC:35068
Rattus norvegicus	SNRNP200	RGD	RGD:1561120
Macaca mulatta	SNRNP200	VGNC	VGNC:77802
Mus musculus	SNRNP200	MGD	MGI:2444401
Felis catus	SNRNP200	VGNC	VGNC:65532

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