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This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
DDB2 (Damage Specific DNA Binding Protein 2) is a Protein Coding gene. Diseases associated with DDB2 include Xeroderma Pigmentosum, Complementation Group E and Xeroderma Pigmentosum Group E. Among its related pathways are Endometrial cancer and Ubiquitin mediated proteolysis. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and damaged DNA binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | TAS | 8798680 |
GO:0003684 | contributes_to damaged DNA binding | IEA,IDA | 22334663 |
GO:0004842 | contributes_to ubiquitin-protein transferase activity | IDA | 12732143 |
GO:0005515 | protein binding | IPI | 9418871 |
GO:0044877 | protein-containing complex binding | IPI | 11564863 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0030054 | cell junction | IDA | -- |
GO:0031465 | Cul4B-RING E3 ubiquitin ligase complex | IDA | 22334663 |
GO:0032991 | protein-containing complex | IDA | 12732143 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Endometrial cancer |
.36
|
|
2 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
3 | Gastric cancer |
.62
.62
|
|
4 | Glioma |
.47
|
.46
|
5 | DNA Damage Response |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | IDA | 12732143 |
GO:0000715 | nucleotide-excision repair, DNA damage recognition | TAS | -- |
GO:0000717 | nucleotide-excision repair, DNA duplex unwinding | TAS | -- |
GO:0006281 | DNA repair | IEA,IBA | 21873635 |
GO:0006289 | nucleotide-excision repair | TAS | 8407967 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | · | 2f | · | 2g | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | · | 3f | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP17: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP18: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP19: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP20: | - |
ExUns: | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||
SP2: | - | - | |||||||||||||||||
SP3: | - | - | - | ||||||||||||||||
SP4: | - | - | - | ||||||||||||||||
SP5: | - | - | |||||||||||||||||
SP6: | |||||||||||||||||||
SP7: | - | - | - | - | - | ||||||||||||||
SP8: | - | ||||||||||||||||||
SP9: | - | - | - | ||||||||||||||||
SP10: | - | - | - | - | - | ||||||||||||||
SP11: | - | - | - | - | - | ||||||||||||||
SP12: | - | - | - | - | - | ||||||||||||||
SP13: | |||||||||||||||||||
SP14: | |||||||||||||||||||
SP15: | |||||||||||||||||||
SP16: | |||||||||||||||||||
SP17: | |||||||||||||||||||
SP18: | |||||||||||||||||||
SP19: | |||||||||||||||||||
SP20: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DDB2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DDB2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DDB2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ddb2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ddb2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DDB2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | DDB2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DDB2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ddb2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ddb2 30 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | DDB2 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0141700 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
872377 | Likely Pathogenic: not provided | 47,232,812(+) |
A/C NM_000107.3(DDB2):c.457-2A>C |
SPLICE_ACCEPTOR_VARIANT,INTRON | |
877194 | Uncertain Significance: Xeroderma pigmentosum, group E | 47,214,994(+) |
A/G NM_000107.3(DDB2):c.-143A>G |
FIVE_PRIME_UTR | |
877254 | Uncertain Significance: Xeroderma pigmentosum, group E | 47,238,856(+) |
C/T NM_000107.3(DDB2):c.*7C>T |
THREE_PRIME_UTR | |
877255 | Uncertain Significance: Xeroderma pigmentosum, group E | 47,238,991(+) |
A/G NM_000107.3(DDB2):c.*142A>G |
THREE_PRIME_UTR | |
877256 | Uncertain Significance: Xeroderma pigmentosum, group E | 47,239,136(+) |
T/G NM_000107.3(DDB2):c.*287T>G |
THREE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3626199 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
xeroderma pigmentosum, complementation group e |
|
|
xeroderma pigmentosum group e |
|
|
xeroderma pigmentosum, variant type |
|
|
skin carcinoma |
|
|
cockayne syndrome |
|
|