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  2. TDG - thymine DNA glycosylase Gene

TDG - thymine DNA glycosylase Gene

Homo sapiens

Also known as hTDG

Gene ID: 6996 | Gene type: protein coding

About TDG

Cytogenetic location: 12q23.3 Genomic coordinates (GRCh38): 12:103,965,872-103,988,874 (from NCBI)

This gene has 10 transcripts (splice variants) and 284 orthologues. Ubiquitous expression in lymph node (RPKM 10.7), appendix (RPKM 8.9) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this Enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This Enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]

TDG Products(2)

mRNA Protein Name
NM_001363612.2 NP_001350541.1 G/T mismatch-specific thymine DNA glycosylase isoform 2
NM_003211.6 NP_003202.3 G/T mismatch-specific thymine DNA glycosylase isoform 1

TDG Protein Structure

UDG

UDG: Uracil DNA glycosylase superfamily (131 - 278)

  • 0
  • 100
  • 200
  • 300
  • 410 a.a.
Protein Preferred Names Protein Names

G/T mismatch-specific thymine DNA glycosylase

Related Diseases

Diseases Alias
Cortical Deafness
Immunodeficiency With Hyper-Igm, Type 2

HIGM2

Hyper-Igm Syndrome Type 2

Hyper-Igm Syndrome 2

Immunodeficiency With Hyper-Igm Type 2

Activation-Induced Cytidine Deaminase Deficiency

Aid Deficiency

Immunodeficiency With Hyper Igm Type 2

Hyper Igm Syndrome 2

Immunodeficiency With Hyper-Igm 2

Hyper-Igm Immunodeficiency Type 2

Immunodeficiency, With Hyper Igm, Type 2

Hyper-Igm Immunodeficiency Syndrome, Type 2

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type

CHH

Mckusick Type Metaphyseal Chondrodysplasia

Metaphyseal Dysplasia Without Hypotrichosis

Cartilage Hair Hypoplasia Like Syndrome

Metaphyseal Chondrodysplasia Mckusick Type

Chhv

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

Cartilage-Hair Syndrome

Mckusick'S Metaphyseal Chondrodysplasia Syndrome

Metaphyseal Chondrodysplasia, Recessive Type

Autosomal Recessive Metaphyseal Chondrodysplasia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta TDG VGNC VGNC:78297
Mus musculus TDG MGD MGI:108247
Felis catus TDG VGNC VGNC:66043
Bos taurus TDG VGNC VGNC:35711
Canis familiaris TDG VGNC VGNC:47216
Rattus norvegicus TDG RGD RGD:620959
Others TDG NCBI