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	-
2	REVIEWED	NM_017628.4	NP_060098.3	NC_000004.12	(105145874..105279802)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	XR_007057933.1	-	NC_000004.12	(105145874..105279802)	Reference GRCh38.p14 Primary Assembly	-

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 1471 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 28514442 29735542 32814053 33961781 34667079
4	Homo sapiens	IBA	is_active_in	nucleus	Component	-
5	Homo sapiens	IEA	located_in	nucleus	Component	-
6	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
7	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
8	Homo sapiens	IEA	located_in	chromosome	Component	-
9	Homo sapiens	IEA	involved_in	chromatin organization	Process	-
10	Homo sapiens	IDA	involved_in	protein O-linked glycosylation	Process	23222540
11	Homo sapiens	IMP	involved_in	protein O-linked glycosylation	Process	23353889
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	regulation of gene expression	Process	-
15	Homo sapiens	IEA	involved_in	positive regulation of macromolecule biosynthetic process	Process	-
16	Homo sapiens	IEA	enables	oxidoreductase activity	Function	-
17	Homo sapiens	IEA	enables	2-oxoglutarate-dependent dioxygenase activity	Function	-
18	Homo sapiens	IBA	involved_in	myeloid cell differentiation	Process	-
19	Homo sapiens	IMP	involved_in	myeloid cell differentiation	Process	21057493
20	Homo sapiens	IEA	involved_in	epigenetic regulation of gene expression	Process	-
21	Homo sapiens	IDA	involved_in	positive regulation of gene expression via chromosomal CpG island demethylation	Process	24315485
22	Homo sapiens	IBA	involved_in	positive regulation of transcription by RNA polymerase II	Process	-
23	Homo sapiens	IMP	involved_in	positive regulation of transcription by RNA polymerase II	Process	23222540 23353889
24	Homo sapiens	IEA	enables	metal ion binding	Function	-
25	Homo sapiens	IEA	enables	dioxygenase activity	Function	-
26	Homo sapiens	IBA	enables	DNA 5-methylcytosine dioxygenase activity	Function	-
27	Homo sapiens	IDA	enables	DNA 5-methylcytosine dioxygenase activity	Function	24315485
28	Homo sapiens	IEA	enables	DNA 5-methylcytosine dioxygenase activity	Function	-
29	Homo sapiens	IMP	enables	DNA 5-methylcytosine dioxygenase activity	Function	21057493 23222540 32518946
30	Homo sapiens	ISS	enables	DNA 5-methylcytosine dioxygenase activity	Function	-