Literature summary for 3.1.22.1 extracted from

Ueki, M.; Takeshita, H.; Fujihara, J.; Kimura-Kataoka, K.; Iida, R.; Yuasa, I.; Nakajima, T.; Kominato, Y.; Yasuda, T.
Genetic and expression analysis of all 7 non-synonymous single nucleotide polymorphisms in the human deoxyribonuclease II gene, with potential relevance to autoimmunity (2010), Clin. Chim. Acta, 411, 92-98.

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Application

Application	Comment	Organism
medicine	non-synonymous single nucleotide polymorphisms in the DNase II gene may have clinical implications in relation to the prevalence of autoimmune diseases	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
DNA fragment containing the entire coding sequence of DNase II cDNA amplified and ligated into pcDNA3.1(+). Mutants corresponding to each single nucleotide polymorphism expressed in COS-7 cell	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A335Term	does not eliminate DNase II activity	Homo sapiens
A58del	in Japanese, African, Korean and Caucasian subjects, homozygous for the G292 allele. Shows almost no DNase II activity	Homo sapiens
H188A	shows similar levels of activity to that of the wild-type	Homo sapiens
H188K	shows similar levels of activity to that of the wild-type	Homo sapiens
H188R	in Japanese, African, Korean and Caucasian subjects, homozygous for the A683 allele. DNase II activity is similar to that of the wild-type	Homo sapiens
Q322Term	eliminates DNase II activity	Homo sapiens
Q322Term	in Japanese, African, Korean and Caucasian subjects, homozygous for the C1084 allele. Shows almost no DNase II activity	Homo sapiens
Q329Term	eliminates DNase II activity	Homo sapiens
R23A	exerts no effect on the DNase II activity	Homo sapiens
R23H	exerts no effect on the DNase II activity	Homo sapiens
R23I	in Japanese, African, Korean and Caucasian subjects, homozygous for the G188 allele. DNase II activity is similar to that of the wild-type	Homo sapiens
R298A	drastically abrogates DNase II activity	Homo sapiens
R298H	drastically abrogates DNase II activity	Homo sapiens
R298K	drastically abrogates DNase II activity	Homo sapiens
R298L	in Japanese, African, Korean and Caucasian subjects, homozygous for the G1013 allele. Reduces the DNase II activity greatly to less than 10% of that of the wild-type	Homo sapiens
V190I	in Korean subjects,heterozygous for the G688 and A688 alleles. In Japanese, homozygous for the G688 allele. DNase II activity is similar to that of the wild-type	Homo sapiens
V284A	activity remains low	Homo sapiens
V284L	activity remains low	Homo sapiens
V284M	in Japanese, African, Korean and Caucasian subjects, homozygous for the G970 allele. Reduces the DNase II activity greatly to less than 10% of that of the wild-type	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	O00115	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
spleen	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
salmon testicular DNA + H2O	-	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
deoxyribonuclease II	-	Homo sapiens

General Information

General Information	Comment	Organism
physiological function	DNase II gene shows relatively low genetic diversity with regard to the non-synonymous single nucleotide polymorphisms, suggesting that the enzyme has been well conserved	Homo sapiens

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Release 2023.1 (January 2023)