Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23020
Gene name Gene Name - the full gene name approved by the HGNC.	Small nuclear ribonucleoprotein U5 subunit 200
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SNRNP200
Synonyms (NCBI Gene) Gene synonyms aliases	ASCC3L1, BRR2, HELIC2, RP33, U5-200KD
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q11.2
Summary Summary of gene provided in NCBI Entrez 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

Show/Hide all(14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144934076	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs267607077	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs373701482	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs375734152	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs397514574	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs397514575	G>C	Pathogenic	Coding sequence variant, missense variant
rs527236113	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs527236114	C>A	Pathogenic	Coding sequence variant, missense variant
rs527236115	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs786205529	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs933842186	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs959069360	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1470798497	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1477839027	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(196)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048637	hsa-miR-99a-5p	CLASH	23622248
MIRT046154	hsa-miR-30b-5p	CLASH	23622248
MIRT045437	hsa-miR-149-5p	CLASH	23622248
MIRT041550	hsa-miR-193b-3p	CLASH	23622248
MIRT040511	hsa-miR-548b-3p	CLASH	23622248
MIRT039338	hsa-miR-425-5p	CLASH	23622248
MIRT038194	hsa-miR-151a-5p	CLASH	23622248
MIRT037150	hsa-miR-877-3p	CLASH	23622248
MIRT1375832	hsa-let-7a	CLIP-seq
MIRT1375833	hsa-let-7b	CLIP-seq
MIRT1375834	hsa-let-7c	CLIP-seq
MIRT1375835	hsa-let-7d	CLIP-seq
MIRT1375836	hsa-let-7e	CLIP-seq
MIRT1375837	hsa-let-7f	CLIP-seq
MIRT1375838	hsa-let-7g	CLIP-seq
MIRT1375839	hsa-let-7i	CLIP-seq
MIRT1375840	hsa-miR-1243	CLIP-seq
MIRT1375841	hsa-miR-1908	CLIP-seq
MIRT1375842	hsa-miR-1915	CLIP-seq
MIRT1375843	hsa-miR-3065-3p	CLIP-seq
MIRT1375844	hsa-miR-3133	CLIP-seq
MIRT1375845	hsa-miR-3166	CLIP-seq
MIRT1375846	hsa-miR-3647-3p	CLIP-seq
MIRT1375847	hsa-miR-3689d	CLIP-seq
MIRT1375848	hsa-miR-370	CLIP-seq
MIRT1375849	hsa-miR-371b-5p	CLIP-seq
MIRT1375850	hsa-miR-4458	CLIP-seq
MIRT1375851	hsa-miR-4468	CLIP-seq
MIRT1375852	hsa-miR-4494	CLIP-seq
MIRT1375853	hsa-miR-4500	CLIP-seq
MIRT1375854	hsa-miR-4511	CLIP-seq
MIRT1375855	hsa-miR-4706	CLIP-seq
MIRT1375856	hsa-miR-4726-3p	CLIP-seq
MIRT1375857	hsa-miR-4749-5p	CLIP-seq
MIRT1375858	hsa-miR-4795-5p	CLIP-seq
MIRT1375859	hsa-miR-491-3p	CLIP-seq
MIRT1375860	hsa-miR-499a-5p	CLIP-seq
MIRT1375861	hsa-miR-520a-5p	CLIP-seq
MIRT1375862	hsa-miR-525-5p	CLIP-seq
MIRT1375863	hsa-miR-626	CLIP-seq
MIRT1375864	hsa-miR-663	CLIP-seq
MIRT1375865	hsa-miR-665	CLIP-seq
MIRT1375866	hsa-miR-668	CLIP-seq
MIRT1375867	hsa-miR-759	CLIP-seq
MIRT1375868	hsa-miR-873	CLIP-seq
MIRT1375869	hsa-miR-888	CLIP-seq
MIRT1375870	hsa-miR-98	CLIP-seq
MIRT2111756	hsa-miR-3064-5p	CLIP-seq
MIRT1375844	hsa-miR-3133	CLIP-seq
MIRT1375846	hsa-miR-3647-3p	CLIP-seq
MIRT2111757	hsa-miR-3652	CLIP-seq
MIRT2111758	hsa-miR-3685	CLIP-seq
MIRT1375849	hsa-miR-371b-5p	CLIP-seq
MIRT2111759	hsa-miR-4286	CLIP-seq
MIRT2111760	hsa-miR-4430	CLIP-seq
MIRT2111761	hsa-miR-4435	CLIP-seq
MIRT1375852	hsa-miR-4494	CLIP-seq
MIRT2111762	hsa-miR-4505	CLIP-seq
MIRT1375854	hsa-miR-4511	CLIP-seq
MIRT2111763	hsa-miR-4643	CLIP-seq
MIRT2111764	hsa-miR-4649-3p	CLIP-seq
MIRT2111765	hsa-miR-466	CLIP-seq
MIRT2111766	hsa-miR-4760-3p	CLIP-seq
MIRT2111767	hsa-miR-4789-3p	CLIP-seq
MIRT1375860	hsa-miR-499a-5p	CLIP-seq
MIRT2111768	hsa-miR-544b	CLIP-seq
MIRT1375868	hsa-miR-873	CLIP-seq
MIRT1375869	hsa-miR-888	CLIP-seq
MIRT2335042	hsa-miR-3155	CLIP-seq
MIRT2335043	hsa-miR-3155b	CLIP-seq
MIRT1375846	hsa-miR-3647-3p	CLIP-seq
MIRT2111758	hsa-miR-3685	CLIP-seq
MIRT1375854	hsa-miR-4511	CLIP-seq
MIRT2111763	hsa-miR-4643	CLIP-seq
MIRT2111765	hsa-miR-466	CLIP-seq
MIRT2111766	hsa-miR-4760-3p	CLIP-seq
MIRT2111767	hsa-miR-4789-3p	CLIP-seq
MIRT1375858	hsa-miR-4795-5p	CLIP-seq
MIRT2335044	hsa-miR-484	CLIP-seq
MIRT1375868	hsa-miR-873	CLIP-seq
MIRT2111763	hsa-miR-4643	CLIP-seq
MIRT2111765	hsa-miR-466	CLIP-seq
MIRT2111766	hsa-miR-4760-3p	CLIP-seq
MIRT2111767	hsa-miR-4789-3p	CLIP-seq
MIRT1375846	hsa-miR-3647-3p	CLIP-seq
MIRT1375840	hsa-miR-1243	CLIP-seq
MIRT2440622	hsa-miR-3153	CLIP-seq
MIRT1375861	hsa-miR-520a-5p	CLIP-seq
MIRT1375862	hsa-miR-525-5p	CLIP-seq
MIRT1375866	hsa-miR-668	CLIP-seq
MIRT1375867	hsa-miR-759	CLIP-seq
MIRT1375832	hsa-let-7a	CLIP-seq
MIRT1375833	hsa-let-7b	CLIP-seq
MIRT1375834	hsa-let-7c	CLIP-seq
MIRT1375835	hsa-let-7d	CLIP-seq
MIRT1375836	hsa-let-7e	CLIP-seq
MIRT1375837	hsa-let-7f	CLIP-seq
MIRT1375838	hsa-let-7g	CLIP-seq
MIRT1375839	hsa-let-7i	CLIP-seq
MIRT2629044	hsa-miR-1226	CLIP-seq
MIRT2629045	hsa-miR-1228	CLIP-seq
MIRT1375840	hsa-miR-1243	CLIP-seq
MIRT1375841	hsa-miR-1908	CLIP-seq
MIRT2629046	hsa-miR-29a	CLIP-seq
MIRT2629047	hsa-miR-29b	CLIP-seq
MIRT2629048	hsa-miR-29c	CLIP-seq
MIRT2111756	hsa-miR-3064-5p	CLIP-seq
MIRT1375843	hsa-miR-3065-3p	CLIP-seq
MIRT2440622	hsa-miR-3153	CLIP-seq
MIRT2335042	hsa-miR-3155	CLIP-seq
MIRT2335043	hsa-miR-3155b	CLIP-seq
MIRT2111757	hsa-miR-3652	CLIP-seq
MIRT2629049	hsa-miR-3661	CLIP-seq
MIRT2111758	hsa-miR-3685	CLIP-seq
MIRT1375847	hsa-miR-3689d	CLIP-seq
MIRT1375848	hsa-miR-370	CLIP-seq
MIRT2629050	hsa-miR-3909	CLIP-seq
MIRT2629051	hsa-miR-3975	CLIP-seq
MIRT2629052	hsa-miR-4281	CLIP-seq
MIRT2111759	hsa-miR-4286	CLIP-seq
MIRT2111760	hsa-miR-4430	CLIP-seq
MIRT2111761	hsa-miR-4435	CLIP-seq
MIRT1375850	hsa-miR-4458	CLIP-seq
MIRT1375851	hsa-miR-4468	CLIP-seq
MIRT1375853	hsa-miR-4500	CLIP-seq
MIRT2111762	hsa-miR-4505	CLIP-seq
MIRT2111763	hsa-miR-4643	CLIP-seq
MIRT2111764	hsa-miR-4649-3p	CLIP-seq
MIRT2111765	hsa-miR-466	CLIP-seq
MIRT2629053	hsa-miR-4691-5p	CLIP-seq
MIRT1375855	hsa-miR-4706	CLIP-seq
MIRT1375857	hsa-miR-4749-5p	CLIP-seq
MIRT2111766	hsa-miR-4760-3p	CLIP-seq
MIRT2111767	hsa-miR-4789-3p	CLIP-seq
MIRT1375858	hsa-miR-4795-5p	CLIP-seq
MIRT2629054	hsa-miR-4798-3p	CLIP-seq
MIRT2335044	hsa-miR-484	CLIP-seq
MIRT1375861	hsa-miR-520a-5p	CLIP-seq
MIRT1375862	hsa-miR-525-5p	CLIP-seq
MIRT2111768	hsa-miR-544b	CLIP-seq
MIRT2629055	hsa-miR-548v	CLIP-seq
MIRT1375863	hsa-miR-626	CLIP-seq
MIRT2629056	hsa-miR-631	CLIP-seq
MIRT1375864	hsa-miR-663	CLIP-seq
MIRT1375866	hsa-miR-668	CLIP-seq
MIRT1375867	hsa-miR-759	CLIP-seq
MIRT1375870	hsa-miR-98	CLIP-seq
MIRT1375832	hsa-let-7a	CLIP-seq
MIRT1375833	hsa-let-7b	CLIP-seq
MIRT1375834	hsa-let-7c	CLIP-seq
MIRT1375835	hsa-let-7d	CLIP-seq
MIRT1375836	hsa-let-7e	CLIP-seq
MIRT1375837	hsa-let-7f	CLIP-seq
MIRT1375838	hsa-let-7g	CLIP-seq
MIRT1375839	hsa-let-7i	CLIP-seq
MIRT2629044	hsa-miR-1226	CLIP-seq
MIRT1375840	hsa-miR-1243	CLIP-seq
MIRT1375841	hsa-miR-1908	CLIP-seq
MIRT2629046	hsa-miR-29a	CLIP-seq
MIRT2629047	hsa-miR-29b	CLIP-seq
MIRT2629048	hsa-miR-29c	CLIP-seq
MIRT2111756	hsa-miR-3064-5p	CLIP-seq
MIRT1375843	hsa-miR-3065-3p	CLIP-seq
MIRT2440622	hsa-miR-3153	CLIP-seq
MIRT2335042	hsa-miR-3155	CLIP-seq
MIRT2335043	hsa-miR-3155b	CLIP-seq
MIRT2111757	hsa-miR-3652	CLIP-seq
MIRT2629049	hsa-miR-3661	CLIP-seq
MIRT2111758	hsa-miR-3685	CLIP-seq
MIRT1375847	hsa-miR-3689d	CLIP-seq
MIRT1375848	hsa-miR-370	CLIP-seq
MIRT2629052	hsa-miR-4281	CLIP-seq
MIRT2111759	hsa-miR-4286	CLIP-seq
MIRT2111760	hsa-miR-4430	CLIP-seq
MIRT2111761	hsa-miR-4435	CLIP-seq
MIRT1375850	hsa-miR-4458	CLIP-seq
MIRT1375853	hsa-miR-4500	CLIP-seq
MIRT2111762	hsa-miR-4505	CLIP-seq
MIRT2111763	hsa-miR-4643	CLIP-seq
MIRT2111764	hsa-miR-4649-3p	CLIP-seq
MIRT2111765	hsa-miR-466	CLIP-seq
MIRT1375855	hsa-miR-4706	CLIP-seq
MIRT1375857	hsa-miR-4749-5p	CLIP-seq
MIRT2111766	hsa-miR-4760-3p	CLIP-seq
MIRT2111767	hsa-miR-4789-3p	CLIP-seq
MIRT1375858	hsa-miR-4795-5p	CLIP-seq
MIRT2335044	hsa-miR-484	CLIP-seq
MIRT1375861	hsa-miR-520a-5p	CLIP-seq
MIRT1375862	hsa-miR-525-5p	CLIP-seq
MIRT2111768	hsa-miR-544b	CLIP-seq
MIRT1375863	hsa-miR-626	CLIP-seq
MIRT2629056	hsa-miR-631	CLIP-seq
MIRT1375864	hsa-miR-663	CLIP-seq
MIRT1375866	hsa-miR-668	CLIP-seq
MIRT1375867	hsa-miR-759	CLIP-seq
MIRT1375870	hsa-miR-98	CLIP-seq

Show/Hide all(44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000354	Process	Cis assembly of pre-catalytic spliceosome	IC	9539711
GO:0000388	Process	Spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	IBA
GO:0000388	Process	Spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	IDA	35241646
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	8670905, 29301961
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	30975767
GO:0000398	Process	MRNA splicing, via spliceosome	TAS
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IDA	23045696, 35241646
GO:0003724	Function	RNA helicase activity	IEA
GO:0003724	Function	RNA helicase activity	TAS
GO:0004386	Function	Helicase activity	IDA	9539711
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	9774689, 16723661, 16730941, 17332742, 18951082, 22365833, 22720776, 23704370, 23793891, 27173435, 28514442, 28838205, 32296183, 33961781, 34790668, 35241646, 35271311, 39251607
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	22720776, 29301961
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	30975767
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IBA
GO:0005681	Component	Spliceosomal complex	IDA	8670905
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767
GO:0005682	Component	U5 snRNP	IDA	9539711
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016020	Component	Membrane	HDA	16210410
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030532	Component	Small nuclear ribonucleoprotein complex	IEA
GO:0042802	Function	Identical protein binding	IPI	22365833
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	23793891
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	29361316
GO:0071006	Component	U2-type catalytic step 1 spliceosome	IDA	29301961
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

MIM	HGNC	e!Ensembl
601664	30859	ENSG00000144028

Protein

UniProt ID

O75643

Protein name

U5 small nuclear ribonucleoprotein 200 kDa helicase (EC 3.6.4.13) (Activating signal cointegrator 1 complex subunit 3-like 1) (BRR2 homolog) (U5 snRNP-specific 200 kDa protein) (U5-200KD)

Protein function

Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome (PubMed:35241646). Plays a role in pre-mRNA splicing as a core component of precatalytic, catalytic and postcata

PDB

2Q0Z , 3JCR , 4F91 , 4F92 , 4F93 , 4KIT , 5O9Z , 5URJ , 5URK , 5URM , 5XJC , 5YZG , 5Z56 , 5Z57 , 5Z58 , 6AH0 , 6AHD , 6FF7 , 6ICZ , 6QDV , 6QW6 , 6QX9 , 6S8O , 6S8Q , 6S9I , 7A5P , 7ABG , 7ABI , 7BDI , 7BDJ , 7BDK , 7BDL , 7DVQ , 7OS1 , 7OS2 , 7PX3 , 7W5B , 8BC8 , 8BC9 , 8BCA , 8BCB , 8BCC , 8BCD , 8BCE , 8BCF , 8BCG , 8BCH , 8C6J , 8CH6 , 8H6E , 8H6J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18149	Helicase_PWI	254 → 363	N-terminal helicase PWI domain	Domain
PF00270	DEAD	482 → 663	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	703 → 860	Helicase conserved C-terminal domain	Family
PF02889	Sec63	981 → 1285	Sec63 Brl domain	Family
PF00270	DEAD	1329 → 1514	DEAD/DEAH box helicase	Domain
PF02889	Sec63	1812 → 2123	Sec63 Brl domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:19878916}.

Sequence

MADVTARSLQYEYKANSNLVLQADRSLIDRTRRDEPTGEVLSLVGKLEGTRMGDKAQRTK
PQMQEERRAKRRKRDEDRHDINKMKGYTLLSEGIDEMVGIIYKPKTKETRETYEVLLSFI
QAALGDQPRDILCGAADEVLAVLKNEKLRDKERRKEIDLLLGQTDDTRYHVLVNLGKKIT
DYGGDKEIQNMDDNIDETYGVNVQFESDEEEGDEDVYGEVREEASDDDMEGDEAVVRCTL
SANLVASGELMSSKKKDLHPRDIDAFWLQRQLSRFYDDAIVSQKKADEVLEILKTASDDR
ECENQLVLLLGFNTFDFIKVLRQHRMMILYCTLLASAQSEAEKERIMGKMEADPELSKFL
YQLHETEKEDLIREERSRRERVRQSRMDTDLETMDLDQGGEALAPRQVLDLEDLVFTQGS
HFMANKRCQLPDGSFRRQRKGYEEVHVPALKPKPFGSEEQLLPVEKLPKYAQAGFEGFKT
LNRIQSKLYRAALETDENLLLCAPTGAGKTNVALMCMLREIGKHINMDGTINVDDFKIIY
IAPMRSLVQEMVGSFGKRLATYGITVAELTGDHQLCKEEISATQIIVCTPEKWDIITRKG
GERTYTQLVRLIILDEIHLLHDDRGPVLEALVARAIRNIEMTQEDVRLIGLSATLPNYED
VATFLRVDPAKGLFYFDNSFRPVPLEQTYVGITEKKAIKRFQIMNEIVYEKIMEHAGKNQ
VLVFVHSRKETGKTARAIRDMCLEKDTLGLFLREGSASTEVLRTEAEQCKNLELKDLLPY
GFAIHHAGMTRVDRTLVEDLFADKHIQVLVSTATLAWGVNLPAHTVIIKGTQVYSPEKGR
WTELGALDILQMLGRAGRPQYDTKGEGILITSHGELQYYLSLLNQQLPIESQMVSKLPDM
LNAEIVLGNVQNAKDAVNWLGYAYLYIRMLRSPTLYGISHDDLKGDPLLDQRRLDLVHTA
ALMLDKNNLVKYDKKTGNFQVTELGRIASHYYITNDTVQTYNQLLKPTLSEIELFRVFSL
SSEFKNITVREEEKLELQKLLERVPIPVKESIEEPSAKINVLLQAFISQLKLEGFALMAD
MVYVTQSAGRLMRAIFEIVLNRGWAQLTDKTLNLCKMIDKRMWQSMCPLRQFRKLPEEVV
KKIEKKNFPFERLYDLNHNEIGELIRMPKMGKTIHKYVHLFPKLELSVHLQPITRSTLKV
ELTITPDFQWDEKVHGSSEAFWILVEDVDSEVILHHEYFLLKAKYAQDEHLITFFVPVFE
PLPPQYFIRVVSDRWLSCETQLPVSFRHLILPEKYPPPTELLDLQPLPVSALRNSAFESL
YQDKFPFFNPIQTQVFNTVYNSDDNVFVGAPTGSGKTICAEFAILRMLLQSSEGRCVYIT
PMEALAEQVYMDWYEKFQDRLNKKVVLLTGETSTDLKLLGKGNIIISTPEKWDILSRRWK
QRKNVQNINLFVVDEVHLIGGENGPVLEVICSRMRYISSQIERPIRIVALSSSLSNAKDV
AHWLGCSATSTFNFHPNVRPVPLELHIQGFNISHTQTRLLSMAKPVYHAITKHSPKKPVI
VFVPSRKQTRLTAIDILTTCAADIQRQRFLHCTEKDLIPYLEKLSDSTLKETLLNGVGYL
HEGLSPMERRLVEQLFSSGAIQVVVASRSLCWGMNVAAHLVIIMDTQYYNGKIHAYVDYP
IYDVLQMVGHANRPLQDDEGRCVIMCQGSKKDFFKKFLYEPLPVESHLDHCMHDHFNAEI
VTKTIENKQDAVDYLTWTFLYRRMTQNPNYYNLQGISHRHLSDHLSELVEQTLSDLEQSK
CISIEDEMDVAPLNLGMIAAYYYINYTTIELFSMSLNAKTKVRGLIEIISNAAEYENIPI
RHHEDNLLRQLAQKVPHKLNNPKFNDPHVKTNLLLQAHLSRMQLSAELQSDTEEILSKAI
RLIQACVDVLSSNGWLSPALAAMELAQMVTQAMWSKDSYLKQLPHFTSEHIKRCTDKGVE
SVFDIMEMEDEERNALLQLTDSQIADVARFCNRYPNIELSYEVVDKDSIRSGGPVVVLVQ
LEREEEVTGPVIAPLFPQKREEGWWVVIGDAKSNSLISIKRLTLQQKAKVKLDFVAPATG
AHNYTLYFMSDAYMGCDQEYKFSVDVKEAETDSDSD

Sequence length

2136

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
retinal dystrophy	Retinal dystrophy	rs959069360, rs267607077, rs2063883437, rs556400279, rs527236113, rs2063893838, rs2063918440	N/A
Retinitis Pigmentosa	Retinitis pigmentosa 33, retinitis pigmentosa	rs959069360, rs267607077, rs527236113, rs1470798497, rs397514574, rs397514575, rs2063883437, rs527236114	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Rod-cone dystrophy	rod-cone dystrophy	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Stargardt Disease	stargardt disease	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	33939924
Carcinoma Non Small Cell Lung	Associate	34299277
Cone Rod Dystrophies	Associate	31260034
Disease	Associate	24319334, 31260034
Genetic Diseases Inborn	Associate	33429167
Neoplasm Metastasis	Associate	31902674
Night Blindness	Associate	31260034
Personality Disorders	Associate	31902674
Photophobia	Associate	31260034
Prostatic Neoplasms	Associate	31902674
Retinal Diseases	Associate	33429167
Retinitis Pigmentosa	Associate	19710410, 19878916, 23029027, 23045696, 23887765, 24319334, 24940031, 26720483, 26968627, 27072132, 27735924, 28045043, 31260034, 35138024
Retinitis Pigmentosa 33	Associate	27454487

SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200)