THUMPD2 (THUMP domain 2 tRNA and snRNA guanosine methyltransferase)

Gene

• Entrez ID: 80745
• Gene name: THUMP domain 2 tRNA and snRNA guanosine methyltransferase
• Gene symbol: THUMPD2
• Synonyms (NCBI Gene): C2orf8
• Chromosome: 2
• Chromosome location: 2p22.1|2p22-p21

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1424198	hsa-miR-1178	CLIP-seq
MIRT1424199	hsa-miR-1253	CLIP-seq
MIRT1424200	hsa-miR-1285	CLIP-seq
MIRT1424201	hsa-miR-2861	CLIP-seq
MIRT1424202	hsa-miR-3155	CLIP-seq
MIRT1424203	hsa-miR-3155b	CLIP-seq
MIRT1424204	hsa-miR-3163	CLIP-seq
MIRT1424205	hsa-miR-3187-5p	CLIP-seq
MIRT1424206	hsa-miR-3647-3p	CLIP-seq
MIRT1424207	hsa-miR-3662	CLIP-seq
MIRT1424208	hsa-miR-371b-5p	CLIP-seq
MIRT1424209	hsa-miR-4434	CLIP-seq
MIRT1424210	hsa-miR-4438	CLIP-seq
MIRT1424211	hsa-miR-4512	CLIP-seq
MIRT1424212	hsa-miR-4516	CLIP-seq
MIRT1424213	hsa-miR-4531	CLIP-seq
MIRT1424214	hsa-miR-4738-3p	CLIP-seq
MIRT1424215	hsa-miR-484	CLIP-seq
MIRT1424216	hsa-miR-5095	CLIP-seq
MIRT1424217	hsa-miR-612	CLIP-seq
MIRT1424218	hsa-miR-624	CLIP-seq
MIRT2349028	hsa-miR-4670-3p	CLIP-seq
MIRT2642088	hsa-miR-1264	CLIP-seq
MIRT2642089	hsa-miR-142-5p	CLIP-seq
MIRT2642090	hsa-miR-340	CLIP-seq
MIRT2642091	hsa-miR-3613-3p	CLIP-seq
MIRT2642092	hsa-miR-371-5p	CLIP-seq
MIRT1424208	hsa-miR-371b-5p	CLIP-seq
MIRT2642093	hsa-miR-4422	CLIP-seq
MIRT2642094	hsa-miR-513c	CLIP-seq
MIRT2642095	hsa-miR-514b-5p	CLIP-seq
MIRT2642096	hsa-miR-548a-3p	CLIP-seq
MIRT2642097	hsa-miR-548e	CLIP-seq
MIRT2642098	hsa-miR-548f	CLIP-seq
MIRT2642099	hsa-miR-577	CLIP-seq
MIRT2642088	hsa-miR-1264	CLIP-seq
MIRT2642091	hsa-miR-3613-3p	CLIP-seq
MIRT2642092	hsa-miR-371-5p	CLIP-seq
MIRT1424208	hsa-miR-371b-5p	CLIP-seq
MIRT2642094	hsa-miR-513c	CLIP-seq
MIRT2642095	hsa-miR-514b-5p	CLIP-seq
MIRT2642096	hsa-miR-548a-3p	CLIP-seq
MIRT2642097	hsa-miR-548e	CLIP-seq
MIRT2642098	hsa-miR-548f	CLIP-seq
MIRT2642099	hsa-miR-577	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IMP	37283053
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053, 34948388
GO:0005634	Component	Nucleus	IDA	34948388
GO:0005634	Component	Nucleus	IEA
GO:0006396	Process	RNA processing	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016423	Function	TRNA (guanine) methyltransferase activity	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0030488	Process	TRNA methylation	IBA
GO:0032259	Process	Methylation	IEA
GO:0043527	Component	TRNA methyltransferase complex	IDA	37283053
GO:0160230	Function	U6 snRNA (guanine-N(2))-methyltransferase activity	IDA	37283053

Other IDs

• MIM: 611751
• HGNC: 14890
• e!Ensembl: ENSG00000138050

Protein

• UniProt ID: Q9BTF0
• Protein name: U6 snRNA (guanine-N(2))-methyltransferase THUMPD2 (EC 2.1.1.-) (THUMP domain-containing protein 2)
• Protein function: Catalytic subunit of the THUMPD2-TRM112 methyltransferase complex, that specifically mediates the S-adenosyl-L-methionine-dependent N(2)-methylation of guanosine nucleotides, most probably at position 72 (m2G72), in the U6snRNA of the major spli
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02926	THUMP	120 → 263	THUMP domain	Domain
  PF01170	UPF0020	272 → 433	Putative RNA methylase family UPF0020	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in a variety of tissues including brain, colon, gingiva, heart, kidney, liver, lung, placenta, small intestine, spleen and thymus. {ECO:0000269|PubMed:12063391}.
• Sequence:

  MSEARGEPGSGPEAGARFFCTAGRGLEPFVMREVRARLAATQVEYISGKVFFTTCSDLNM
  LKKLKSAERLFLLIKKQFPLIISSVSKGKIFNEMQRLINEDPGSWLNAISIWKNLLELDA
  KKEKLSQRDDNQLKRKVGENEIIAKKLKIEQMQKIEENRDCQLEKQIKEETLEQRDFTTK
  SEKFQEEEFQNDIEKAIDTHNQNDLTFRVSCRCSGTIGKAFTAQEVGKVIGIAIMKHFGW
  KADLRNPQLEIFIHLNDIYSVVGIPVFRVSLASRAYIKTAGLRSTIAWAMASLADIKAGA
  FVLDPMCGLGTILLEAAKEWPDVYYVGADVSDSQLLGTWDNLKAAGLEDKIELLKISVIE
  LPLPSESVDIIISDIPFGKKFKLGKDIKSILQEMERVLHVGGTIVLLLSEDHHRRLTDCK
  ESNIPFNSKDSHTDEPGIKKCLNPEEKTGAFKTASTSFEASNHKFLDRMSPFGSLVPVEC
  YKVSLGKTDAFICKYKKSHSSGL

• Sequence length: 503

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Obesity	Obesity	Pubtator	23526746	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31656051		★☆☆☆☆ Found in Text Mining only