DNMT3L - DNA methyltransferase 3 like Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29947

About DNMT3L

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:44,246,339-44,261,897 (from NCBI)

This gene has 4 transcripts (splice variants), 249 orthologues and 4 paralogues. Biased expression in liver (RPKM 1.3), kidney (RPKM 1.0) and 3 other tissues.

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 protein with similarity to DNA methyltransferases, but is not thought to function as a DNA Methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

DNMT3L Products (2)

mRNA	Protein	Name
NM_013369.4	NP_037501.2	DNA (cytosine-5)-methyltransferase 3-like isoform 1
NM_175867.3	NP_787063.1	DNA (cytosine-5)-methyltransferase 3-like isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables enzyme activator activity	IDA IDA: Inferred from direct assay	16543361	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	12202768	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12202768	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of gene expression, epigenetic	IDA IDA: Inferred from direct assay	12202768	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of catalytic complex	IPI IPI: Inferred from physical interaction	25383530	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
DNA (cytosine-5)-methyltransferase 3-like	DNA (cytosine-5-)-methyltransferase 3-like

DNMT3L Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DNMT3L	Q9UJW3	HDAC1	Homo sapiens	Q13547	Anti Tag CoIP	12202768
Intra	DNMT3L	Q9UJW3	HDAC1	Homo sapiens	Q13547	Pull Down	12202768
Intra	DNMT3L	Q9UJW3	RSL24D1	Homo sapiens	Q9UHA3	Validated Y2H	25416956
Intra	DNMT3L	Q9UJW3	RSL24D1	Homo sapiens	Q9UHA3	Y2H Pooling	16189514
Intra	DNMT3L	Q9UJW3	RSL24D1	Homo sapiens	Q9UHA3	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Testicular Spermatocytic Seminoma	Spermatocytic Seminoma
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome	Atr-X Syndrome Atr, Nondeletion Type Alpha-Thalassemia X-Linked Intellectual Disability Syndrome Atrx Syndrome Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome Xlmr Hypotonic Face Syndrome Alpha Thalassemia X-Linked Intellectual Disability Syndrome Alpha Thalassemia X-Linked Mental Retardation Syndrome Alpha Thalassemia/Mental Retardation, X-Linked Alpha-Thalassemia X-Linked Mental Retardation Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type X-Linked Alpha-Thalassemia/Mental Retardation Syndrome Xlmr-Hypotonic Face Syndrome Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
Tatton-Brown-Rahman Syndrome	TBRS Dnmt3a Overgrowth Syndrome Tatton-Brown-Rahman Overgrowth Syndrome Dos Dnmt3a-Related Overgrowth Syndrome Doid:0112339 Dose
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	Icf Syndrome Immunodeficiency Syndrome, Variable Ciid Centromeric Instability, Immunodeficiency Syndrome Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16 Icf
Taylor'S Syndrome	Pelvic Congestion Syndrome Congestion-Fibrosis Syndrome Taylor Syndrome
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy ADCADN Autosomal Dominant Cerebellar Ataxia, Deafness, And Narcolepsy Adca-Dn Syndrome Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome Adca-Dn Autosomal Dominant Cerebellar Ataxia-Hearing Loss-Narcolepsy Syndrome Ataxia, Cerebellar, Deafness, And Narcolepsy, Autosomal Dominant
Cartilage-Hair Hypoplasia	Metaphyseal Chondrodysplasia, Mckusick Type CHH Mckusick Type Metaphyseal Chondrodysplasia Metaphyseal Dysplasia Without Hypotrichosis Cartilage Hair Hypoplasia Like Syndrome Metaphyseal Chondrodysplasia Mckusick Type Chhv Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency Cartilage-Hair Syndrome Mckusick'S Metaphyseal Chondrodysplasia Syndrome Metaphyseal Chondrodysplasia, Recessive Type Autosomal Recessive Metaphyseal Chondrodysplasia
Alpha-Thalassemia Myelodysplasia Syndrome	ATMDS Acquired Hemoglobin H Disease Alpha-Thalassemia Myelodysplasia Syndrome, Somatic Acquired Hbh Disease Alpha-Thalassemia-Myelodysplastic Syndrome Hemoglobin H Disease, Acquired Acquired Alpha-Thalassemia With Myelodysplastic Syndrome Hemoglobin H Disease Acquired Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic
Neuropathy, Hereditary Sensory, Type Ie	HSN1E Hsn Ie Hereditary Sensory Neuropathy Type 1e Hereditary Sensory Neuropathy Type Ie Hsan 1 Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia Hereditary Sensory Neuropathy Type 1 Hsn1 Hereditary Sensory And Autonomic Neuropathy Type 1 Neuropathy Hereditary Sensory And Autonomic Type 1 Neuropathy Hereditary Sensory Radicular, Autosomal Dominant Neuropathy, Hereditary Sensory, 1e Neuropathy Hereditary Sensory With Hearing Loss And Dementia Neuropathy, Hereditary Sensory, Type I Neuropathy, Sensory, Hereditary, Type Ie Hereditary Sensory And Autonomic Neuropathy Type Ie Hereditary Sensory Autonomic Neuropathy, Type 1
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Primary Hyperoxaluria	Hyperoxaluria Hyperoxaluria, Primary Oxalosis Primary Oxalosis Congenital Oxaluria D-Glycerate Dehydrogenase Deficiency Glyceric Aciduria Glycolic Aciduria Hepatic Agt Deficiency Oxaluria, Primary Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency Primary Oxaluria Hyperoxaluria Primary Primary Hyperoxaluria Type 2 Primary Hyperoxaluria, Type I
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Weaver Syndrome	Wss Weaver-Smith Syndrome WVS Weaver-Like Syndrome Weaver-Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Syndrome Camptodactyly - Overgrowth - Unusual Facies Ezh2 Related Overgrowth Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly Weaver Smith Syndrome Weaver Like Syndrome Weaver Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Weaver Syndrome 1 Weaver Syndrome 2 Wvs1 Wvs2
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03913	DNMT3L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DNMT3L	RGD	RGD:1303239
Macaca mulatta	DNMT3L	VGNC	VGNC:108397
Mus musculus	DNMT3L	MGD	MGI:1859287
Others	DNMT3L	NCBI