DNMT3L - DNA methyltransferase 3 like Gene

Homo sapiens

Gene ID: 29947 | Gene type: protein coding

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

Protein Preferred Names

Protein Names

DNA (cytosine-5)-methyltransferase 3-like

DNA (cytosine-5-)-methyltransferase 3-like

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

Bioactive Molecules (1)

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

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