TSR2 (TSR2 ribosome maturation factor)

Gene

• Entrez ID: 90121
• Gene name: TSR2 ribosome maturation factor
• Gene symbol: TSR2
• Synonyms (NCBI Gene): DBA14, DT1P1A10, WGG1
• Disease Acronyms (UniProt): DBA14
• Chromosome: X
• Chromosome location: Xp11.22
• Summary: The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786203996	A>G	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022680	hsa-miR-124-3p	Microarray	18668037
MIRT036048	hsa-miR-1301-3p	CLASH	23622248
MIRT1460536	hsa-miR-1207-5p	CLIP-seq
MIRT1460537	hsa-miR-147	CLIP-seq
MIRT1460538	hsa-miR-1909	CLIP-seq
MIRT1460539	hsa-miR-2110	CLIP-seq
MIRT1460540	hsa-miR-2467-5p	CLIP-seq
MIRT1460541	hsa-miR-3127-3p	CLIP-seq
MIRT1460542	hsa-miR-3151	CLIP-seq
MIRT1460543	hsa-miR-342-5p	CLIP-seq
MIRT1460544	hsa-miR-3667-3p	CLIP-seq
MIRT1460545	hsa-miR-3911	CLIP-seq
MIRT1460546	hsa-miR-4271	CLIP-seq
MIRT1460547	hsa-miR-4447	CLIP-seq
MIRT1460548	hsa-miR-4472	CLIP-seq
MIRT1460549	hsa-miR-4475	CLIP-seq
MIRT1460550	hsa-miR-4651	CLIP-seq
MIRT1460551	hsa-miR-4664-5p	CLIP-seq
MIRT1460552	hsa-miR-4667-5p	CLIP-seq
MIRT1460553	hsa-miR-4700-5p	CLIP-seq
MIRT1460554	hsa-miR-4725-3p	CLIP-seq
MIRT1460555	hsa-miR-4763-3p	CLIP-seq
MIRT1460556	hsa-miR-4797-5p	CLIP-seq
MIRT1460557	hsa-miR-491-5p	CLIP-seq
MIRT1460558	hsa-miR-520a-5p	CLIP-seq
MIRT1460559	hsa-miR-525-5p	CLIP-seq
MIRT1460560	hsa-miR-555	CLIP-seq
MIRT1460561	hsa-miR-608	CLIP-seq
MIRT1460562	hsa-miR-644	CLIP-seq
MIRT1460563	hsa-miR-668	CLIP-seq
MIRT1460564	hsa-miR-941	CLIP-seq
MIRT2138275	hsa-miR-1252	CLIP-seq
MIRT2138276	hsa-miR-1298	CLIP-seq
MIRT2138277	hsa-miR-1587	CLIP-seq
MIRT1460539	hsa-miR-2110	CLIP-seq
MIRT2138278	hsa-miR-23a	CLIP-seq
MIRT2138279	hsa-miR-23b	CLIP-seq
MIRT2138280	hsa-miR-23c	CLIP-seq
MIRT1460540	hsa-miR-2467-5p	CLIP-seq
MIRT2138281	hsa-miR-378g	CLIP-seq
MIRT1460546	hsa-miR-4271	CLIP-seq
MIRT1460549	hsa-miR-4475	CLIP-seq
MIRT2138282	hsa-miR-4476	CLIP-seq
MIRT2138283	hsa-miR-4492	CLIP-seq
MIRT2138284	hsa-miR-4498	CLIP-seq
MIRT2138285	hsa-miR-4505	CLIP-seq
MIRT2138286	hsa-miR-4656	CLIP-seq
MIRT1460552	hsa-miR-4667-5p	CLIP-seq
MIRT2138287	hsa-miR-4675	CLIP-seq
MIRT1460553	hsa-miR-4700-5p	CLIP-seq
MIRT1460554	hsa-miR-4725-3p	CLIP-seq
MIRT2138288	hsa-miR-4741	CLIP-seq
MIRT2138289	hsa-miR-485-5p	CLIP-seq
MIRT1460558	hsa-miR-520a-5p	CLIP-seq
MIRT1460559	hsa-miR-525-5p	CLIP-seq
MIRT1460560	hsa-miR-555	CLIP-seq
MIRT2138290	hsa-miR-762	CLIP-seq
MIRT1460564	hsa-miR-941	CLIP-seq
MIRT2359188	hsa-miR-1236	CLIP-seq
MIRT2138276	hsa-miR-1298	CLIP-seq
MIRT2359189	hsa-miR-1305	CLIP-seq
MIRT2138278	hsa-miR-23a	CLIP-seq
MIRT2138279	hsa-miR-23b	CLIP-seq
MIRT2138280	hsa-miR-23c	CLIP-seq
MIRT2359190	hsa-miR-3125	CLIP-seq
MIRT1460541	hsa-miR-3127-3p	CLIP-seq
MIRT1460544	hsa-miR-3667-3p	CLIP-seq
MIRT2359191	hsa-miR-3916	CLIP-seq
MIRT2359192	hsa-miR-4436b-5p	CLIP-seq
MIRT1460563	hsa-miR-668	CLIP-seq
MIRT2652412	hsa-miR-1278	CLIP-seq
MIRT2652413	hsa-miR-1911	CLIP-seq
MIRT2652414	hsa-miR-3120-3p	CLIP-seq
MIRT1460541	hsa-miR-3127-3p	CLIP-seq
MIRT2652415	hsa-miR-3183	CLIP-seq
MIRT2652416	hsa-miR-3194-5p	CLIP-seq
MIRT2652417	hsa-miR-34c-3p	CLIP-seq
MIRT1460544	hsa-miR-3667-3p	CLIP-seq
MIRT2652418	hsa-miR-3680	CLIP-seq
MIRT2652419	hsa-miR-3943	CLIP-seq
MIRT2652420	hsa-miR-4268	CLIP-seq
MIRT2652421	hsa-miR-4279	CLIP-seq
MIRT2652422	hsa-miR-4313	CLIP-seq
MIRT2652423	hsa-miR-4420	CLIP-seq
MIRT2652424	hsa-miR-4691-3p	CLIP-seq
MIRT2652425	hsa-miR-4691-5p	CLIP-seq
MIRT2652426	hsa-miR-4723-3p	CLIP-seq
MIRT2652427	hsa-miR-4773	CLIP-seq
MIRT2652428	hsa-miR-545	CLIP-seq
MIRT2652429	hsa-miR-549	CLIP-seq
MIRT2652430	hsa-miR-766	CLIP-seq
MIRT2652412	hsa-miR-1278	CLIP-seq
MIRT2652413	hsa-miR-1911	CLIP-seq
MIRT1460541	hsa-miR-3127-3p	CLIP-seq
MIRT2652415	hsa-miR-3183	CLIP-seq
MIRT2652416	hsa-miR-3194-5p	CLIP-seq
MIRT2652417	hsa-miR-34c-3p	CLIP-seq
MIRT1460544	hsa-miR-3667-3p	CLIP-seq
MIRT2652418	hsa-miR-3680	CLIP-seq
MIRT2652419	hsa-miR-3943	CLIP-seq
MIRT2652420	hsa-miR-4268	CLIP-seq
MIRT2652421	hsa-miR-4279	CLIP-seq
MIRT2652422	hsa-miR-4313	CLIP-seq
MIRT2652423	hsa-miR-4420	CLIP-seq
MIRT2652424	hsa-miR-4691-3p	CLIP-seq
MIRT2652425	hsa-miR-4691-5p	CLIP-seq
MIRT2652426	hsa-miR-4723-3p	CLIP-seq
MIRT2652430	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000462	Process	Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 20562859, 25416956, 32296183

Other IDs

• MIM: 300945
• HGNC: 25455
• e!Ensembl: ENSG00000158526

Protein

• UniProt ID: Q969E8
• Protein name: Pre-rRNA-processing protein TSR2 homolog
• Protein function: May be involved in 20S pre-rRNA processing.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10273	WGG	12 → 91	Pre-rRNA-processing protein TSR2	Family

• Sequence:

  MAGAAEDARALFRAGVCAALEAWPALQIAVENGFGGVHSQEKAKWLGGAVEDYFMRNADL
  ELDEVEDFLGELLTNEFDTVVEDGSLPQVSQQLQTMFHHFQRGDGAALREMASCITQRKC
  KVTATALKTARETDEDEDDVDSVEEMEVTATNDGAATDGVCPQPEPSDPDAQTIKEEDIV
  EDGWTIVRRKK

• Sequence length: 191

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aarskog syndrome	Aarskog syndrome	rs28935497, rs137853266, rs1569541255, rs137853267, rs387906718, rs756586058, rs1557189608, rs1557189252, rs1269514277, rs1557191567, rs1601953552, rs1601954686, rs1601950553, rs1601953661, rs1922859149
Anemia	Anemia, Macrocytic, Anemia, Diamond-Blackfan	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	24942156, 28297620
Diamond-blackfan anemia with mandibulofacial dysostosis	DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS	rs786203996, rs786203997, rs148942765, rs786203998	24942156
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Leukemia	Acute leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Migraine	Migraine Disorders	rs794727411

Unknown
Disease term	Disease name	Evidence	References	Source
Diamond-Blackfan Anemia With Mandibulofacial Dysostosis	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			GenCC
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Anemia Diamond Blackfan	Associate	24942156, 30201955
Lupus Erythematosus Systemic	Associate	35864995
Mandibulofacial Dysostosis	Associate	24942156