Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	1775
Gene name	Deoxyribonuclease 1 like 2
Gene symbol	DNASE1L2
Synonyms (NCBI Gene)	DNAS1L2
Chromosome	16
Chromosome location	16p13.3

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001942	Process	Hair follicle development	IEA
GO:0003335	Process	Corneocyte development	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	TAS	9205125
GO:0003824	Function	Catalytic activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004530	Function	Deoxyribonuclease I activity	IBA
GO:0004536	Function	DNA nuclease activity	IEA
GO:0004536	Function	DNA nuclease activity	TAS	9205125
GO:0005509	Function	Calcium ion binding	TAS	9205125
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0006259	Process	DNA metabolic process	TAS	9205125
GO:0006308	Process	DNA catabolic process	IBA
GO:0006308	Process	DNA catabolic process	IEA
GO:0006308	Process	DNA catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
602622	2958	ENSG00000167968

Q92874

Protein name

Deoxyribonuclease-1-like 2 (EC 3.1.21.-) (DNase I homolog protein DHP1) (Deoxyribonuclease I-like 2) (DNase I-like 2)

Protein function

Divalent cation-dependent acid DNA endonuclease involved in the breakdown of the nucleus during corneocyte formation of epidermal keratinocytes. May play an immune role by eliminating harmful DNA released into the extracellular environment by da

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03372	Exo_endo_phos	25 → 288	Endonuclease/Exonuclease/phosphatase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Preferentially expressed in the skin and up-regulated during keratinocytes differentiation. Highly abundant (at protein level) in the stratum granulosum. {ECO:0000269|PubMed:16902420}.

Sequence

MGGPRALLAALWALEAAGTAALRIGAFNIQSFGDSKVSDPACGSIIAKILAGYDLALVQE
VRDPDLSAVSALMEQINSVSEHEYSFVSSQPLGRDQYKEMYLFVYRKDAVSVVDTYLYPD
PEDVFSREPFVVKFSAPGTGERAPPLPSRRALTPPPLPAAAQNLVLIPLHAAPHQAVAEI
DALYDVYLDVIDKWGTDDMLFLGDFNADCSYVRAQDWAAIRLRSSEVFKWLIPDSADTTV
GNSDCAYDRIVACGARLRRSLKPQSATVHDFQEEFGLDQTQALAISDHFPVEVTLKFHR

Sequence length

299

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	16902420	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Disease Of Lung	Cystic lung disease	Pubtator	33802146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	BEFREE	25576224, 28394916, 28743926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DNASE1L2 (deoxyribonuclease 1 like 2)