| Gene Symbol |
TET2
|
| Entrez Gene |
54790
|
| Alt Symbol |
KIAA1546, MDS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
tet methylcytosine dioxygenase 2
|
| Other Description |
methylcytosine dioxygenase TET2|probable methylcytosine dioxygenase TET2|tet oncogene family member 2
|
| Swissprots |
Q9NXW0 Q96JX5 B5MDU0 Q9HCM6 Q6N021 Q3LIB8 Q2TB88
|
| Accessions |
EAX06177 EAX06178 EAX06179 Q6N021 AB046766 BAB13372 AB075496 BAE45750 AI084057 AK000039 BAA90898 AK027819 BAB55391 AK055149 BC019007 BC110509 AAI10510 BC110510 AAI10511 BC150180 AAI50181 BC150201 AAI50202 BQ006500 BX640738 CAE45851 DA391215 DR000714 DR005542 FM992369 CAX30492 XM_005263082 XP_005263139 XM_006714242 XP_006714305 XM_011532043 XP_011530345 XM_011532044 XP_011530346 XR_244633 XR_244634 XR_427546 XR_938746 XR_938747 NM_001127208 NP_001120680 NM_017628 NP_060098
|
| Function |
Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5- hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for 5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5- formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT. {ECO:0000269|PubMed:19483684, ECO:0000269|PubMed:21057493, ECO:0000269|PubMed:21817016, ECO:0000269|PubMed:23222540, ECO:0000269|PubMed:23353889,
|
| Tissue Specificity |
Broadly expressed. Highly expressed in hematopoietic cells; highest expression observed in granulocytes. Expression is reduced in granulocytes from peripheral blood of patients affected by myelodysplastic syndromes. {ECO:0000269|PubMed:12646957, ECO:0000269|PubMed:19483684}.
|