GenTIGS

Tet methylcytosine dioxygenase 2 (TET2) Associated conditions: 1. Multiple myeloma 2. Myelodysplastic syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001127208.3	NP_001120680.1	NC_000004.12	(105145874..105279802)	Reference GRCh38.p14 Primary Assembly	Q6N021
2	REVIEWED	NM_017628.4	NP_060098.3	NC_000004.12	(105145874..105279802)	Reference GRCh38.p14 Primary Assembly	Q6N021
3	REVIEWED	XR_007057933.1	-	NC_000004.12	(105145874..105279802)	Reference GRCh38.p14 Primary Assembly	Q6N021

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1430 reference articles

Variant Information Tet methylcytosine dioxygenase 2 (TET2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Tet methylcytosine dioxygenase 2 (TET2)

ClinVar variants:Revealing mutagenic patterns

GO Term of Tet methylcytosine dioxygenase 2 (TET2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IMP	involved_in	leukocyte differentiation	Process	32518946
2	Homo sapiens	IEA	enables	DNA binding	Function	-
3	Homo sapiens	IPI	enables	protein binding	Function	23222540 23353889 25601757 29735542 32814053 34667079
4	Homo sapiens	IBA	is_active_in	nucleus	Component	21873635
5	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
6	Homo sapiens	IEA	located_in	chromosome	Component	-
7	Homo sapiens	IDA	involved_in	5-methylcytosine catabolic process	Process	24315485
8	Homo sapiens	IEA	involved_in	chromatin organization	Process	-
9	Homo sapiens	IDA	involved_in	protein O-linked glycosylation	Process	23222540
10	Homo sapiens	IMP	involved_in	protein O-linked glycosylation	Process	23353889
11	Homo sapiens	IEA	involved_in	cell cycle	Process	-
12	Homo sapiens	IDA	enables	ferrous iron binding	Function	24315485
13	Homo sapiens	IDA	enables	zinc ion binding	Function	24315485
14	Homo sapiens	IEA	involved_in	response to organic cyclic compound	Process	-
15	Homo sapiens	IBA	involved_in	myeloid cell differentiation	Process	21873635
16	Homo sapiens	IMP	involved_in	myeloid cell differentiation	Process	21057493
17	Homo sapiens	IBA	involved_in	positive regulation of transcription by RNA polymerase II	Process	21873635
18	Homo sapiens	IMP	involved_in	positive regulation of transcription by RNA polymerase II	Process	23222540 23353889
19	Homo sapiens	IBA	enables	methylcytosine dioxygenase activity	Function	21873635
20	Homo sapiens	IDA	enables	methylcytosine dioxygenase activity	Function	24315485
21	Homo sapiens	IMP	enables	methylcytosine dioxygenase activity	Function	21057493 23222540 32518946
22	Homo sapiens	ISS	enables	methylcytosine dioxygenase activity	Function	-
23	Homo sapiens	IBA	involved_in	DNA demethylation	Process	21873635
24	Homo sapiens	IDA	involved_in	DNA demethylation	Process	24315485