2. Gene
  3. SNRNP200 - small nuclear ribonucleoprotein U5 subunit 200 Gene

SNRNP200 - small nuclear ribonucleoprotein U5 subunit 200 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

SNRNP200 Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (483 - 659)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (780 - 859)

Sec63

Sec63: Sec63 Brl domain (982 - 1286)

DEAD

DEAD: DEAD/DEAH box helicase (1330 - 1509)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (1617 - 1666)

Sec63

Sec63: Sec63 Brl domain (1812 - 2124)

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  • 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 / 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