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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	90121
Gene name	TSR2 ribosome maturation factor
Gene symbol	TSR2
Synonyms (NCBI Gene)	DBA14DT1P1A10WGG1
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]

Show/Hide all (1)

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

108

Show/Hide all (108)

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

Show/Hide all (4)

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
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 20562859, 25416956, 32296183, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0006364	Process	RRNA processing	IEA

MIM	HGNC	e!Ensembl
300945	25455	ENSG00000158526

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	Pathogenic	rs786203996	RCV000167572	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	Pathogenic	rs786203996	RCV000191915	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANEMIA, DIAMOND-BLACKFAN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAMOND-BLACKFAN ANEMIA	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TSR2-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aarskog syndrome	Aarskog Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aase Smith syndrome 2	Aase-Smith syndrome	ORPHANET_DG	24942156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	ORPHANET_DG	24942156		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Macrocytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS	Diamond-Blackfan Anemia With Mandibulofacial Dysostosis	GENOMICS_ENGLAND_DG	24942156		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS	Diamond-Blackfan Anemia With Mandibulofacial Dysostosis	UNIPROT_DG	24942156		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS	Diamond-Blackfan Anemia With Mandibulofacial Dysostosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS	Diamond-Blackfan Anemia With Mandibulofacial Dysostosis	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	29280495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35864995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial dysostosis	Pubtator	24942156	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11691800, 15277228		★★★★★ ★☆☆☆☆ Found in Text Mining only

TSR2 (TSR2 ribosome maturation factor)