DNMT3L (DNA methyltransferase 3 like)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29947
Gene name Gene Name - the full gene name approved by the HGNC.
DNA methyltransferase 3 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNMT3L
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(48)
GO ID Ontology Definition Evidence Reference
GO:0000792 Component Heterochromatin IEA
GO:0000794 Component Condensed nuclear chromosome IEA
GO:0001890 Process Placenta development IEA
GO:0005515 Function Protein binding IPI 12202768, 16189514, 17713477, 25383530, 25416956, 32296183
GO:0005634 Component Nucleus HDA 16780588
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606588 2980 ENSG00000142182
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9UJW3
Protein name DNA (cytosine-5)-methyltransferase 3-like
Protein function Catalytically inactive regulatory factor of DNA methyltransferases that can either promote or inhibit DNA methylation depending on the context (By similarity). Essential for the function of DNMT3A and DNMT3B: activates DNMT3A and DNMT3B by bindi
PDB 2PV0 , 2PVC , 2QRV , 4U7P , 4U7T , 5YX2 , 6BRR , 6F57 , 6KDA , 6KDB , 6KDL , 6KDP , 6KDT , 6U8P , 6U8V , 6U8W , 6U8X , 6U90 , 6U91 , 6W89 , 6W8B , 6W8D , 6W8J , 7X9D , 8TCI , 8XEE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17980 ADD_DNMT3 34 → 89 Cysteine rich ADD domain in DNMT3 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at low levels in several tissues including testis, ovary, and thymus. {ECO:0000269|PubMed:10857753}.
Sequence 
MAAIPALDPEAEPSMDVILVGSSELSSSVSPGTGRDLIAYEVKANQRNIEDICICCGSLQ
VHTQHPLFEGGICAPCKDKFLDALFLYDDDGYQSYCSICCSGETLLICGNPDCTRCYCFE
CVDSLVGPGTSGKVHAMSNWVCYLCLPSSRSGLLQRRRKWRSQLKAFYDRESENPLEMFE
TVPVWRRQPVRVLSLFEDIKKELTSLGFLESGSDPGQLKHVVDVTDTVRKDVEEWGPFDL
VYGATPPLGHTCDRPPSWYLFQFHRLLQYARPKPGSPRPFFWMFVDNLVLNKEDLDVASR
FLEMEPVTIPDVHGGSLQNAVRVWSNIPAIRSRHWALVSEEELSLLAQNKQSSKLAAKWP
TKLVKNCFLPLREYFKYFSTELTSSL
Sequence length 386
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 21347319
Carcinogenesis Associate 19625766
Carcinoma Embryonal Associate 24386123
Carcinoma Hepatocellular Inhibit 38308276
Carcinoma in Situ Associate 24292451
Carcinoma Squamous Cell Associate 19625766
Congenital central hypoventilation syndrome Associate 24894164
Down Syndrome Associate 26317209, 26911678, 27245352, 33750431
Heart Defects Congenital Associate 24894164
Infertility Male Associate 28894282