Property Summary

NCBI Gene PubMed Count 47
PubMed Score 53.44
PubTator Score 35.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count
RETINITIS PIGMENTOSA 33 (disorder) 1
Disease Target Count P-value
ovarian cancer 8492 7.83701042398946E-13
psoriasis 6685 1.09767040529556E-4
medulloblastoma, large-cell 6234 1.62654873643972E-4
dermatomyositis 967 2.88688741186773E-4
lung cancer 4473 3.96243338047686E-4
astrocytoma 1493 4.8673483869156E-4
oligodendroglioma 2849 0.00290617908303799
group 3 medulloblastoma 2254 0.00344523436409197
primitive neuroectodermal tumor 3031 0.00430150710357023
osteosarcoma 7933 0.00952691559833688
ependymoma 2514 0.0124501443424558
pancreatic cancer 2300 0.0133166233566637
acute myeloid leukemia 785 0.0216338123196836
diabetes mellitus 1663 0.029356601348229
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

  Differential Expression (14)

Disease log2 FC p
astrocytoma 2.000 0.000
ependymoma 1.700 0.012
oligodendroglioma 2.000 0.003
psoriasis 1.300 0.000
osteosarcoma 1.001 0.010
group 3 medulloblastoma 1.400 0.003
medulloblastoma, large-cell 1.100 0.000
primitive neuroectodermal tumor 1.300 0.004
lung cancer 1.200 0.000
diabetes mellitus -1.600 0.029
acute myeloid leukemia 1.800 0.022
ovarian cancer -1.500 0.000
pancreatic cancer 1.100 0.013
dermatomyositis 1.400 0.000

Synonym

Accession O75643 O94884 Q6NZY0 Q6PX59 Q8NBE6 Q96IF2 Q9H7S0
Symbols BRR2
RP33
HELIC2
ASCC3L1
U5-200KD

Gene

PDB

3JCR   4KIT   2Q0Z   4F91   4F92   4F93  

  Ortholog (13)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG
Opossum EggNOG Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA EggNOG
C. elegans OMA Inparanoid
Fruitfly OMA Inparanoid
S.cerevisiae OMA Inparanoid

Gene RIF (14)

PMID Text
25450007 Results show that SNW1 directly associates with EFTUD2 and SNRNP200 and that disruption of SNW1 association with these proteins promotes the apoptosis of breast cancer cells.
24319334 Mutations in SNRNP200 cause 1.6% of autosomal dominant retinitis pigmentosa.
24302620 Our data suggest that BRR2 is an important factor in 5'-splice-site recognition and that the retinitis pigmentosa linked mutations c.3260C>T (p.S1087L) and c.3269G>T (p.R1090L) affect this BRR2 function.
23887765 we evaluated the mutation profile in 24 exons containing the hotspots in SNRNP200 among a cohort of southern Han Chinese retinitis pigmentosa patients and controls. A total of 18 novel variants were detected.
23704370 these data show how a Ski2-like RNA helicase Brr2 can be reversibly inhibited by a protein cofactor Prp8 that directly competes with RNA substrate binding.
23637979 differential human cell culture splicing and cell cycle defect models due to perturbed levels of human U5 snRNP associated U5-200kD RNA helicase
23125841 Tandem affinity purification and mass spectrometry analysis identify small nuclear ribonucleoprotein 200kDa (SNRNP200), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23045696 results reveal the structural and functional interplay between two helicase cassettes in a tandem superfamily 2 enzyme and point to several sites through which Brr2 activity may be regulated
23029027 A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
22174317 Tandem affinity purification and mass spectrometry analysis identify small nuclear ribonucleoprotein 200kDa (SNRNP200), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
More...

AA Sequence

MADVTARSLQYEYKANSNLVLQADRSLIDRTRRDEPTGEVLSLVGKLEGTRMGDKAQRTKPQMQEERRAK      1 - 70
RRKRDEDRHDINKMKGYTLLSEGIDEMVGIIYKPKTKETRETYEVLLSFIQAALGDQPRDILCGAADEVL     71 - 140
AVLKNEKLRDKERRKEIDLLLGQTDDTRYHVLVNLGKKITDYGGDKEIQNMDDNIDETYGVNVQFESDEE    141 - 210
EGDEDVYGEVREEASDDDMEGDEAVVRCTLSANLVASGELMSSKKKDLHPRDIDAFWLQRQLSRFYDDAI    211 - 280
VSQKKADEVLEILKTASDDRECENQLVLLLGFNTFDFIKVLRQHRMMILYCTLLASAQSEAEKERIMGKM    281 - 350
EADPELSKFLYQLHETEKEDLIREERSRRERVRQSRMDTDLETMDLDQGGEALAPRQVLDLEDLVFTQGS    351 - 420
HFMANKRCQLPDGSFRRQRKGYEEVHVPALKPKPFGSEEQLLPVEKLPKYAQAGFEGFKTLNRIQSKLYR    421 - 490
AALETDENLLLCAPTGAGKTNVALMCMLREIGKHINMDGTINVDDFKIIYIAPMRSLVQEMVGSFGKRLA    491 - 560
TYGITVAELTGDHQLCKEEISATQIIVCTPEKWDIITRKGGERTYTQLVRLIILDEIHLLHDDRGPVLEA    561 - 630
LVARAIRNIEMTQEDVRLIGLSATLPNYEDVATFLRVDPAKGLFYFDNSFRPVPLEQTYVGITEKKAIKR    631 - 700
FQIMNEIVYEKIMEHAGKNQVLVFVHSRKETGKTARAIRDMCLEKDTLGLFLREGSASTEVLRTEAEQCK    701 - 770
NLELKDLLPYGFAIHHAGMTRVDRTLVEDLFADKHIQVLVSTATLAWGVNLPAHTVIIKGTQVYSPEKGR    771 - 840
WTELGALDILQMLGRAGRPQYDTKGEGILITSHGELQYYLSLLNQQLPIESQMVSKLPDMLNAEIVLGNV    841 - 910
QNAKDAVNWLGYAYLYIRMLRSPTLYGISHDDLKGDPLLDQRRLDLVHTAALMLDKNNLVKYDKKTGNFQ    911 - 980
VTELGRIASHYYITNDTVQTYNQLLKPTLSEIELFRVFSLSSEFKNITVREEEKLELQKLLERVPIPVKE    981 - 1050
SIEEPSAKINVLLQAFISQLKLEGFALMADMVYVTQSAGRLMRAIFEIVLNRGWAQLTDKTLNLCKMIDK   1051 - 1120
RMWQSMCPLRQFRKLPEEVVKKIEKKNFPFERLYDLNHNEIGELIRMPKMGKTIHKYVHLFPKLELSVHL   1121 - 1190
QPITRSTLKVELTITPDFQWDEKVHGSSEAFWILVEDVDSEVILHHEYFLLKAKYAQDEHLITFFVPVFE   1191 - 1260
PLPPQYFIRVVSDRWLSCETQLPVSFRHLILPEKYPPPTELLDLQPLPVSALRNSAFESLYQDKFPFFNP   1261 - 1330
IQTQVFNTVYNSDDNVFVGAPTGSGKTICAEFAILRMLLQSSEGRCVYITPMEALAEQVYMDWYEKFQDR   1331 - 1400
LNKKVVLLTGETSTDLKLLGKGNIIISTPEKWDILSRRWKQRKNVQNINLFVVDEVHLIGGENGPVLEVI   1401 - 1470
CSRMRYISSQIERPIRIVALSSSLSNAKDVAHWLGCSATSTFNFHPNVRPVPLELHIQGFNISHTQTRLL   1471 - 1540
SMAKPVYHAITKHSPKKPVIVFVPSRKQTRLTAIDILTTCAADIQRQRFLHCTEKDLIPYLEKLSDSTLK   1541 - 1610
ETLLNGVGYLHEGLSPMERRLVEQLFSSGAIQVVVASRSLCWGMNVAAHLVIIMDTQYYNGKIHAYVDYP   1611 - 1680
IYDVLQMVGHANRPLQDDEGRCVIMCQGSKKDFFKKFLYEPLPVESHLDHCMHDHFNAEIVTKTIENKQD   1681 - 1750
AVDYLTWTFLYRRMTQNPNYYNLQGISHRHLSDHLSELVEQTLSDLEQSKCISIEDEMDVAPLNLGMIAA   1751 - 1820
YYYINYTTIELFSMSLNAKTKVRGLIEIISNAAEYENIPIRHHEDNLLRQLAQKVPHKLNNPKFNDPHVK   1821 - 1890
TNLLLQAHLSRMQLSAELQSDTEEILSKAIRLIQACVDVLSSNGWLSPALAAMELAQMVTQAMWSKDSYL   1891 - 1960
KQLPHFTSEHIKRCTDKGVESVFDIMEMEDEERNALLQLTDSQIADVARFCNRYPNIELSYEVVDKDSIR   1961 - 2030
SGGPVVVLVQLEREEEVTGPVIAPLFPQKREEGWWVVIGDAKSNSLISIKRLTLQQKAKVKLDFVAPATG   2031 - 2100
AHNYTLYFMSDAYMGCDQEYKFSVDVKEAETDSDSD                                     2101 - 2136
//

Text Mined References (59)

PMID Year Title
25450007 2015 Inhibition of SNW1 association with spliceosomal proteins promotes apoptosis in breast cancer cells.
24319334 2013 Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
24302620 2014 Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23887765 2013 Contribution of SNRNP200 sequence variations to retinitis pigmentosa.
23704370 2013 Inhibition of RNA helicase Brr2 by the C-terminal tail of the spliceosomal protein Prp8.
23637979 2013 Cell cycle abnormalities associated with differential perturbations of the human U5 snRNP associated U5-200kD RNA helicase.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23045696 2012 Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome.
23029027 2012 A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
More...