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	29947
Gene name	DNA methyltransferase 3 like
Gene symbol	DNMT3L
Synonyms (NCBI Gene)	-
Chromosome	21
Chromosome location	21q22.3
Summary	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

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
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	12202768, 25383530, 32083663
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	HDA	16780588
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	ISS
GO:0007141	Process	Male meiosis I	IEA
GO:0007141	Process	Male meiosis I	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007283	Process	Spermatogenesis	NAS	11934864
GO:0008047	Function	Enzyme activator activity	IBA
GO:0008047	Function	Enzyme activator activity	IDA	16543361
GO:0008047	Function	Enzyme activator activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010558	Process	Negative regulation of macromolecule biosynthetic process	IEA
GO:0019899	Function	Enzyme binding	IPI	12202768
GO:0030154	Process	Cell differentiation	IEA
GO:0032259	Process	Methylation	IEA
GO:0035098	Component	ESC/E(Z) complex	IEA
GO:0035098	Component	ESC/E(Z) complex	ISS
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IEA
GO:0044726	Process	Epigenetic programing of female pronucleus	IEA
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IDA	12202768
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048863	Process	Stem cell differentiation	ISS
GO:0060718	Process	Chorionic trophoblast cell differentiation	IEA
GO:0071514	Process	Genomic imprinting	IEA
GO:0071514	Process	Genomic imprinting	ISS
GO:0090310	Process	Negative regulation of DNA methylation-dependent heterochromatin formation	IEA
GO:0090310	Process	Negative regulation of DNA methylation-dependent heterochromatin formation	ISS
GO:0141005	Process	Transposable element silencing by heterochromatin formation	IEA
GO:0141005	Process	Transposable element silencing by heterochromatin formation	ISS
GO:0141068	Process	Autosome genomic imprinting	IEA
GO:0141196	Process	Transposable element silencing by piRNA-mediated DNA methylation	IEA
GO:1902494	Component	Catalytic complex	IPI	25383530, 32083663

MIM	HGNC	e!Ensembl
606588	2980	ENSG00000142182

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

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 (4)

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.
DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (41)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30786140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	22116073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	30877840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23079992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19625766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	24386123	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38308276	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	24292451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19625766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	30877840		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17965599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17965599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	26917601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	24894164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	26317209, 26911678, 27245352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	26317209, 26911678, 27245352, 33750431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	22401780, 26647998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	26647998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	26917601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	24894164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30877840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	28894282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21979949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	30554804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23079992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22942708, 31515938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17965599, 19625766, 22671959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17965599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30877840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20670142, 22819380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	33750431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24859147		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24859147		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seminoma	Seminoma	BEFREE	15856041, 26917601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	24386123	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33369458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22942708, 31515938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22942708, 31515938	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	26917601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	26917601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17965599, 19625766, 20670142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DNMT3L (DNA methyltransferase 3 like)