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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29089
Gene name	Ubiquitin conjugating enzyme E2 T
Gene symbol	UBE2T
Synonyms (NCBI Gene)	FANCTHSPC150PIG50
Chromosome	1
Chromosome location	1q32.1
Summary	The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs774357609	G>C	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs796052212	C>T	Pathogenic	Intron variant

Show/Hide all (18)

miRTarBase ID	miRNA	Experiments
MIRT1468812	hsa-miR-3129-3p	CLIP-seq
MIRT1468813	hsa-miR-4426	CLIP-seq
MIRT1468814	hsa-miR-4436a	CLIP-seq
MIRT1468815	hsa-miR-4647	CLIP-seq
MIRT1468816	hsa-miR-4662b	CLIP-seq
MIRT1468817	hsa-miR-4698	CLIP-seq
MIRT1468818	hsa-miR-4761-5p	CLIP-seq
MIRT1468819	hsa-miR-577	CLIP-seq
MIRT1468820	hsa-miR-607	CLIP-seq
MIRT1468821	hsa-miR-891b	CLIP-seq
MIRT2140847	hsa-miR-182	CLIP-seq
MIRT1468812	hsa-miR-3129-3p	CLIP-seq
MIRT2140848	hsa-miR-3133	CLIP-seq
MIRT2140849	hsa-miR-4470	CLIP-seq
MIRT2140847	hsa-miR-182	CLIP-seq
MIRT2140848	hsa-miR-3133	CLIP-seq
MIRT2140849	hsa-miR-4470	CLIP-seq
MIRT1468821	hsa-miR-891b	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0003682	Function	Chromatin binding	IDA	17938197
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	16916645, 17938197, 19111657, 20061386
GO:0005515	Function	Protein binding	IPI	24389026, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	17938197
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	16916645
GO:0006513	Process	Protein monoubiquitination	IDA	16916645, 17938197, 19111657
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	16916645
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019787	Function	Ubiquitin-like protein transferase activity	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16916645, 17938197, 19111657
GO:0032446	Process	Protein modification by small protein conjugation	IEA
GO:0035519	Process	Protein K29-linked ubiquitination	IDA	20061386
GO:0044314	Process	Protein K27-linked ubiquitination	IDA	20061386
GO:0051865	Process	Protein autoubiquitination	IDA	16916645, 19111657
GO:0061631	Function	Ubiquitin conjugating enzyme activity	IBA
GO:0061631	Function	Ubiquitin conjugating enzyme activity	IDA	19589784
GO:0061631	Function	Ubiquitin conjugating enzyme activity	IEA
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	20061386
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	20061386
GO:0070979	Process	Protein K11-linked ubiquitination	IDA	20061386
GO:0085020	Process	Protein K6-linked ubiquitination	IDA	20061386

MIM	HGNC	e!Ensembl
610538	25009	ENSG00000077152

Q9NPD8

Protein name

Ubiquitin-conjugating enzyme E2 T (EC 2.3.2.23) (Cell proliferation-inducing gene 50 protein) (E2 ubiquitin-conjugating enzyme T) (Ubiquitin carrier protein T) (Ubiquitin-protein ligase T)

Protein function

Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair. Acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi ane

PDB

1YH2 , 4CCG , 5NGZ , 5OJJ , 6R75 , 7KZR , 7KZS , 7KZT , 7KZV , 8JUC , 8JVD , 8JVE , 8JVL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00179	UQ_con	6 → 147	Ubiquitin-conjugating enzyme	Domain

Sequence

MQRASRLKRELHMLATEPPPGITCWQDKDQMDDLRAQILGGANTPYEKGVFKLEVIIPER
YPFEPPQIRFLTPIYHPNIDSAGRICLDVLKLPPKGAWRPSLNIATVLTSIQLLMSEPNP
DDPLMADISSEFKYNKPAFLKNARQWTEKHARQKQKADEEEMLDNLPEAGDSRVHNSTQK
RKASQLVGIEKKFHPDV

Sequence length

197

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		Fanconi Anemia Pathway Synthesis of active ubiquitin: roles of E1 and E2 enzymes

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Fanconi anemia complementation group T	Pathogenic	rs774357609, rs796052212	RCV000180789 RCV000180790

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs17490864	RCV005917978
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs17490864	RCV005917979
Familial pancreatic carcinoma	Benign	rs17490864	RCV005917975
Hepatocellular carcinoma	Benign	rs17490864	RCV005917971
Malignant lymphoma, large B-cell, diffuse	Benign	rs17490864	RCV005917976
Nonpapillary renal cell carcinoma	Benign	rs17490864	RCV005917972
Ovarian cancer	Benign	rs17490864	RCV005917973
Uterine carcinosarcoma	Benign	rs17490864	RCV005917977
Uveal melanoma	Benign	rs17490864	RCV005917974

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	31977847, 34461934, 36357897
Alzheimer Disease	Associate	31977847
Bone Marrow Failure Disorders	Associate	26046368
Breast Neoplasms	Associate	26085575, 27020591, 29235520, 33313822, 34787051
Carcinogenesis	Associate	27020591, 30622320, 31969492, 33658475, 35980647
Carcinogenesis	Stimulate	31798276
Carcinoma Hepatocellular	Associate	31798276, 31969492, 33542213, 33658475, 33934686, 35169125, 35569812
Carcinoma Hepatocellular	Stimulate	35169125
Carcinoma Non Small Cell Lung	Associate	29235520, 35703356
Chromosome Aberrations	Associate	37373211
Esophageal Squamous Cell Carcinoma	Associate	34257599
Fanconi Anemia	Associate	16916645, 21722982, 26046368, 26085575, 26119737, 28437106, 30622320, 30715513, 31525021, 34257599
Hypoxia	Inhibit	21722982
Hypoxia Brain	Inhibit	21722982
Leukemia Myeloid Acute	Associate	33893150
Lung Neoplasms	Associate	27020591, 34461934, 36357897
Lymphoma Non Hodgkin	Associate	33351778
Melanoma	Associate	35243940
Multiple Myeloma	Associate	30622320, 31805191, 36534449
Myelodysplastic Syndromes	Associate	37373211
Neoplasm Metastasis	Stimulate	26308072, 33542213
Neoplasm Metastasis	Associate	33351778, 35169125
Neoplasms	Associate	21722982, 26085575, 26308072, 28437106, 31798276, 31969492, 31977847, 33542213, 33934686, 34257599, 34461934, 34853396, 35980647, 36357897
Neoplasms Squamous Cell	Associate	34257599
Ovarian Neoplasms	Associate	35130130
Prostatic Neoplasms	Associate	26308072
Prostatic Neoplasms	Stimulate	26308072
Prostatitis	Associate	26308072
Retinoblastoma	Associate	35980647
Stomach Neoplasms	Stimulate	27020591
Stomach Neoplasms	Associate	33351778
Urinary Bladder Neoplasms	Associate	34776794

UBE2T (ubiquitin conjugating enzyme E2 T)