DNMT3B - DNA methyltransferase 3 beta Gene

Also Known as ICF; ICF1; FSHD4; M.HsaIIIB

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1789

About DNMT3B

Cytogenetic location: 20q11.21 Genomic coordinates (GRCh38): 20:32,762,385-32,809,356 (from NCBI)

This gene has 21 transcripts (splice variants), 217 orthologues, 4 paralogues and is associated with 5 phenotypes. Broad expression in testis (RPKM 3.4), skin (RPKM 1.5) and 25 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 DNA Methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]

DNMT3B Products (6)

mRNA Protein Name
NM_001207055.2 NP_001193984.1 DNA (cytosine-5)-methyltransferase 3B isoform 7
NM_001207056.2 NP_001193985.1 DNA (cytosine-5)-methyltransferase 3B isoform 8
NM_006892.4 NP_008823.1 DNA (cytosine-5)-methyltransferase 3B isoform 1
NM_175848.2 NP_787044.1 DNA (cytosine-5)-methyltransferase 3B isoform 2
NM_175849.2 NP_787045.1 DNA (cytosine-5)-methyltransferase 3B isoform 3
NM_175850.3 NP_787046.1 DNA (cytosine-5)-methyltransferase 3B isoform 6
Molecular Function GO Annotation Evidence Références Source
enables DNA (cytosine-5-)-methyltransferase activity IDA
IDA: Inferred from direct assay
16543361 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11735126 GOA
enables transcription corepressor activity IDA
IDA: Inferred from direct assay
17303076 GOA
enables transcription corepressor activity IMP
IMP: Inferred from mutant phenotype
18567530 GOA
Biological Process GO Annotation Evidence Références Source
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
17303076 GOA
involved in positive regulation of gene expression IMP
IMP: Inferred from mutant phenotype
18413740 GOA
Cellular Component GO Annotation Evidence Références Source
part of catalytic complex IPI
IPI: Inferred from physical interaction
32083663 GOA
located in nucleus IDA
IDA: Inferred from direct assay
17303076 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

DNMT3B Protein Structure

PWWP

PWWP: PWWP domain (224 - 307)

DNA_methylase

DNA_methylase: C-5 cytosine-specific DNA methylase (575 - 708)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 853 a.a.
Protein Preferred Names Protein Names

DNA (cytosine-5)-methyltransferase 3B

  • DNA (cytosine-5-)-methyltransferase 3 beta

DNMT3B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
DNMT3B Q9UBC3 UHRF1 Homo sapiens Q96T88 19798101
Intra
DNMT3B Q9UBC3 EZH2 Homo sapiens Q15910 27728808
Intra
DNMT3B Q9UBC3 EZH2 Homo sapiens Q15910 22094255
Intra
DNMT3B Q9UBC3 EZH2 Homo sapiens Q15910 22094255
Intra
DNMT3B Q9UBC3 EZH2 Homo sapiens Q15910 16357870
Intra
DNMT3B Q9UBC3 SUMO1 Homo sapiens P63165 11735126
Intra
DNMT3B Q9UBC3 SUMO1 Homo sapiens P63165 11735126
Intra
DNMT3B Q9UBC3 UBE2I Homo sapiens P63279 11735126
Intra
DNMT3B Q9UBC3 EED Homo sapiens O75530 22094255
Intra
DNMT3B Q9UBC3 EED Homo sapiens O75530 22094255
Cross: Cross-species interaction Intra: Intraspecies interaction

DNMT3B Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P82061 Dnmt3b Antibody (YA1806) WB, ICC/IF Human, Mouse, Rat
HY-P84853 Dnmt3b Antibody (YA4550) ICC/IF, FC, ELISA Human
HY-P84853A Dnmt3b Antibody (YA4550)(PBS only) ICC/IF, FC, ELISA Human

Related Diseases

Diseases Alias
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
  • Immunodeficiency Syndrome, Variable

  • ICF1

  • Ciid

  • Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

  • Centromeric Instability, Immunodeficiency Syndrome

  • Icf Syndrome 1

  • Centromeric Instability Immunodeficiency Syndrome

  • Icf Syndrome

  • Variable Immune Deficiency With Centromeric Instability Of Chromosomes 1 9 And 16

  • Variable Immunodeficiency Syndrome

  • Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 1

  • Common Variable Immunodeficiency

  • Chromosomal Instability

Facioscapulohumeral Muscular Dystrophy 4, Digenic
  • FSHD4

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

Facioscapulohumeral Muscular Dystrophy 1
  • Facioscapulohumeral Muscular Dystrophy

  • Fshd

  • Landouzy-Dejerine Muscular Dystrophy

  • Muscular Dystrophy, Facioscapulohumeral

  • FSHD1

  • Fshd1a

  • Muscular Dystrophy, Facioscapulohumeral, Type 1a

  • Facioscapulohumeral Muscular Dystrophy Type 1a

  • Fsh Muscular Dystrophy

  • Facioscapulohumeral Muscular Dystrophy 1a

  • Facioscapulohumeral Atrophy

  • Facioscapulohumeral Myopathy

  • Muscular Dystrophy, Facioscapulohumeral, Type 1

  • Facioscapulohumeral Muscular Dystrophy Type 1

  • Landouzy Dejerine Muscular Dystrophy

  • Muscular Dystrophy, Landouzy-Dejerine

  • Fshmd1a

  • Facio-Scapulo-Humeral Dystrophy

  • Facioscapulohumeral Type Progressive Muscular Dystrophy

  • Facioscapuloperoneal Muscular Dystrophy

  • Facioscapulohumeral Dystrophy

  • Fsh Dystrophy

  • Landouzy-Dejerine Dystrophy

  • Landouzy-Dejerine Myopathy

  • Fmd

  • Facioscapulohumeral Muscular Dystrophy-1a

  • Muscular Dystrophy Facioscapulohumeral

  • Dystrophy, Muscular, Facioscapulohumeral

  • Dystrophy, Muscular, Facioscapulohumeral, Type 1

  • Landouzy-Dejerine Disease

  • Landouzy-Déjerine Atrophy

  • Facioscapulohumeral Muscle Dystrophy

  • Fmd - [Facioscapulohumeral Muscular Dystrophy]

  • Fsh - [Facioscapulohumeral Muscular Dystrophy]

  • Fshd - [Facioscapulohumeral Muscular Dystrophy]

  • Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

  • Landouzy-Déjérine Muscular Dystrophy

Thrombocytopenic Purpura, Autoimmune
  • Idiopathic Thrombocytopenic Purpura

  • Autoimmune Thrombocytopenic Purpura

  • Immune Thrombocytopenic Purpura

  • Itp

  • Idiopathic Purpura

  • AITP

  • Ideopath Thrombocytopenic Pur

  • Primary Thrombocytopenic Purpura

  • Werlhof'S Disease

  • Thrombocytopenic Purpura Autoimmune

  • Purpura Thrombocytopenic Idiopathic

  • Purpura, Thrombocytopenic, Idiopathic

  • Autoimmune Thrombocytopenia

  • Thrombocytopenia Due To Platelet Alloimmunization

  • Idiopathic Thrombocytopenia

  • Idiopathic Thrombocytopenia Purpura

  • Frank'S Essential Thrombocytopenia

  • Itp - [Idiopathic Thrombocytopenia Purpura]

  • Werlhof Disease

  • Primary Autoimmune Thrombocytopenic Purpura

  • Haemorrhagic Purpura

  • Essential Thrombocytopenia

  • Purpura Haemorrhagica

Tatton-Brown-Rahman Syndrome
  • TBRS

  • Dnmt3a Overgrowth Syndrome

  • Tatton-Brown-Rahman Overgrowth Syndrome

  • Dos

  • Dnmt3a-Related Overgrowth Syndrome

  • Doid:0112339

  • Dose

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

Muscular Dystrophy
  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy

Macroglossia
  • Congenital Macroglossia

  • Enlarged Tongue

  • Giant Tongue

  • Acquired Macroglossia Nos

  • Congenital Hypertrophy Of Tongue

Testicular Spermatocytic Seminoma
  • Spermatocytic Seminoma

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
  • ICF2

  • Icf Syndrome 2

  • Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 2

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Facioscapulohumeral Muscular Dystrophy 2, Digenic
  • Facioscapulohumeral Muscular Dystrophy 2

  • FSHD2

  • Fshd1b

  • Facioscapulohumeral Muscular Dystrophy 1b

  • Fshd2, Digenic

  • Muscular Dystrophy, Facioscapulohumeral, Type 2

  • Muscular Dystrophy, Facioscapulohumeral, Type 1b

  • Fascioscapulohumeral Muscular Dystrophy 2, Digenic

  • Facioscapulohumeral Muscular Dystrophy Type 2

  • Digenic Facioscapulohumeral Muscular Dystrophy

  • Digenic Fshd2

  • Facioscapulohumeral Muscular Dystrophy Type 1b

  • Dystrophy, Muscular, Facioscapulohumeral, Type 2

Acute Leukemia
  • Stem Cell Leukaemia

  • Stem Cell Leukemia

  • Acute Leukemias

  • Acute Undifferentiated Leukemia

  • Undifferentiated Leukemia

  • Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

  • Blast Cell Leukaemia

  • Blast Leukaemia

  • Blastic Leukaemia

  • Undifferentiated Leukaemia

Digenic Disease
Nasopharyngeal Carcinoma
  • Malignant Neoplasm Of Nasopharynx

  • Npc

  • Nasopharyngeal Cancer

  • Nasopharyngeal Carcinoma 1

  • Nasopharynx Carcinoma

  • Nasopharyngeal Neoplasms

  • Npca

  • Carcinoma Of Nasopharynx

  • Malignant Nasopharyngeal Tumor

  • Nasopharynx Cancer

  • Squamous Cell Carcinoma Of The Nasopharynx

  • Nasopharyngeal Neoplasm

  • Cancer Of Nasopharynx

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Endometrial Cancer
  • Endometrial Carcinoma

  • Endometrial Neoplasm

  • Malignant Neoplasm Of Endometrium

  • Endometrioid Carcinoma

  • Endometrial Neoplasms

  • Carcinoma, Endometrioid

  • Endometrial Cancer, Familial

  • Endometrial Carcinoma, Somatic

  • Endometrial Cancer, Susceptibility To

  • Endometrial Ca

  • Malignant Endometrial Neoplasm

  • Neoplasm Of Endometrium

  • Primary Malignant Neoplasm Of Endometrium

  • Tumor Of Endometrium

  • Carcinoma Of The Endometrium

  • Endometrioid Carcinoma Of Female Reproductive System

  • ENDMC

  • Carcinoma Endometrioid

  • Endometrial Cancers

  • Cancer, Endometrial

  • Uterine Corpus Cancer

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

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

Burkitt Lymphoma
  • Burkitt'S Lymphoma

  • BL

  • Burkitt Lymphoma, Somatic

  • Burkitt Lymphoma/Leukaemia

  • Burkitt'S Tumor

  • Burkitt'S Tumor Or Lymphoma

  • Malignant Lymphoma, Burkitt'S Type

  • Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

  • Small Non-Cleaved Cell Lymphoma

  • Burkitt Tumor

  • Burkitts Lymphoma

  • Lymphoma, Small Noncleaved-Cell

  • Burkitt Tumour

  • Diffuse Small Noncleaved Malignant Burkitt Lymphoma

  • Malignant Burkitt Lymphoma

  • “Burkitt-Like” Lymphoma

  • Undifferentiated Burkitt Lymphoma

  • Small Noncleaved Cell Burkitt Lymphoma

Adult Syndrome
  • Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome

  • Acro Dermato Ungual Lacrimal Tooth Syndrome

  • Pigment Anomaly-Ectrodactyly-Hypodontia Syndrome

  • Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome

  • Adult

Bladder Cancer
  • Urinary Bladder Cancer

  • Bladder Carcinoma

  • Urinary Bladder Carcinoma

  • Bladder Neoplasm

  • Bladder Tumor

  • Cancer, Bladder

  • Malignant Neoplasm Of Urinary Bladder

  • Carcinoma Of Bladder

  • Bladder Cancer, Somatic

  • Tumor Of The Bladder

  • Carcinoma Of Urinary Bladder

  • Bladder Carcinoma Urinary

  • Cancer Of The Urinary Bladder

  • Cancer, Urinary Bladder

  • Malignant Bladder Neoplasm

  • Malignant Bladder Tumor

  • Neoplasm Of The Bladder

  • Neoplasm Of The Urinary Bladder

  • Tumor Of The Urinary Bladder

  • Urinary Bladder Neoplasm

  • BLC

  • Urothelial Carcinoma Of The Bladder

  • Bladder Tumors

  • Urinary Bladder Neoplasms

  • Bladder Cancer Nos

  • Vesical Cancer Nos

  • Malignant Neoplasm Of Bladder, Part Unspecified

  • Malignant Tumour Of Urinary Bladder

  • Primary Malignant Neoplasm Of Bladder

Immune Deficiency Disease
  • Immunodeficiency

  • Primary Immunodeficiency

  • Primary Immunodeficiency Disease

  • Immunologic Deficiency Syndromes

  • Hypoimmunity

  • Immune Deficiency Disorder

  • Immunodeficiency Syndrome

  • Immune Disorder

  • Primary Immune Deficiency Disorder

  • Immune System Diseases

  • Human Immunodeficiency Virus Infection

  • Hiv - [Human Immunodeficiency Virus Infection]

  • Hiv Positive Nos

  • Hiv Disease

  • Acquired Immune Deficiency Syndrome-Related Complex

  • Aids-Like Syndrome

  • Aids-Related Complex Nos

  • Arc - [Aids-Related Complex]

  • Immunodeficiency Due To Human Immunodeficiency Virus Infection

  • Unspecified Human Immunodeficiency Virus Disease

  • Hiv Disease Nos

  • Human Immunodeficiency Virus Positive Nos

  • Hiv Nos

  • Deficiency Of Complement Initial Pathway

  • Deficiency Of Complement Terminal Pathway

  • Cfdd - [Complement Factor D Deficiency]

  • Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

  • Nonfamilial Hypogammaglobulinaemia

  • Common Variable Immune Deficiency

  • Nonfamilial Agammaglobulinaemia

  • Common Variable Agammaglobulinaemia

  • Agammaglobulinaemia Nos

  • Agammaglobulinaemia Antibody Deficiency Syndrome

  • Hypogammaglobulinaemia Antibody Deficiency Syndrome

  • Acquired Agammaglobulinaemia Nos

  • Hypogammaglobulinaemia Nos

  • Hyper Igm

Gastric Cancer
  • Stomach Cancer

  • Gastric Carcinoma

  • Stomach Carcinoma

  • Gastric Cancer, Somatic

  • Gastric Neoplasm

  • Carcinoma Of Stomach

  • Stomach Neoplasms

  • Malignant Neoplasm Of Stomach

  • Gastric Cancer Risk After H. Pylori Infection

  • Cancer Of The Stomach

  • Adult Stomach Cancer

  • Adult Stomach Carcinoma

  • GASC

  • Gastric Cancer Intestinal

  • Gastric Cancers

  • Gastric Carcinomas

  • Cancer, Gastric

  • Stomach Neoplasm

  • Malignant Neoplasm Of Body Of Stomach

  • Malignant Tumor Of Lesser Curve Of Stomach

  • Gastrocarcinoma Of Unspecified Site

  • Leather Bottle Stomach

  • Carcinoma Of Fundus Of Stomach

  • Cancer Of Fundus Of Stomach

  • Primary Malignant Neoplasm Of Body Of Stomach

  • Cancer Of Body Of Stomach

  • Primary Malignant Neoplasm Of Pyloric Antrum

  • Pyloric Antrum Cancer

  • Malignant Tumour Of Stomach

Tetralogy Of Fallot
  • TOF

  • Fallot Tetralogy

  • Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

  • Tetrad Of Fallot

  • Fallot Tetrad

  • Fallot Disease

  • Fallot Complex

  • Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

  • Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

  • Interventricular Septal Defect, In Tetralogy Of Fallot

  • Ventricular Septal Defect With Obstructed Right Ventricular Outflow

  • Tof - [Tetralogy Of Fallot]

  • Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

  • Pulmonary Atresia, Ventricular Septal Defect And Mapcas

  • Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Syndromic X-Linked Intellectual Disability Nascimento Type
  • Mental Retardation, X-Linked Syndromic, Nascimento-Type

  • X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome

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

Non-Syndromic X-Linked Intellectual Disability 93
  • Mrx93

  • X-Linked Mental Retardation With Macrocephaly

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

Hyperoxaluria, Primary, Type I
  • Primary Hyperoxaluria Type 1

  • HP1

  • Glycolic Aciduria

  • Alanine-Glyoxylate Aminotransferase Deficiency

  • Hepatic Agt Deficiency

  • Oxalosis I

  • Primary Hyperoxaluria, Type I

  • Serine:Pyruvate Aminotransferase Deficiency

  • Hyperoxaluria, Primary, Type 1

  • Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency

  • Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency

  • Serine Pyruvate Aminotransferase Deficiency

  • Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

  • Oxalosis 1

  • Hyperoxaluria Primary 1

  • Hyperoxaluria Primary Type I

  • Ph1

  • Primary Hyperoxaluria Type I

  • Oxalosis Type 1

  • 2-Oxoglutarate Glyoxylate Carboligase Deficiency

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

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Myelodysplastic Syndrome
  • Myelodysplastic Syndromes

  • Myelodysplasia

  • MDS

  • Myelodysplastic Syndrome Included

  • Myelodysplastic Syndrome, Susceptibility To, Included

  • Myelodysplastic Syndrome, Somatic

  • Myelodysplastic Syndrome, Susceptibility To

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

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

Rhabdomyosarcoma
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

Squamous Cell Carcinoma, Head And Neck
  • Squamous Cell Carcinoma Of The Head And Neck

  • HNSCC

  • Head And Neck Squamous Cell Carcinoma

  • Squamous Cell Carcinoma Of Lip

  • Squamous Cell Carcinoma, Head And Neck, Somatic

  • Carcinoma Of The Head And Neck

  • Squamous Cell Carcinomas Of Head And Neck

  • Scchn

  • Squamous Cell Carcinoma Of The Hypopharynx

  • Squamous Cell Carcinoma Of The Oropharynx

  • Squamous Cell Carcinoma Of Salivary Glands

  • Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses

  • Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses

  • Squamous Cell Carcinoma Of The Oral Cavity

  • Squamous Cell Carcinoma Of The Lip

  • Carcinoma, Squamous Cell Of Head And Neck

  • Lip Squamous Cell Carcinoma

  • Carcinoma, Squamous Cell, Head And Neck

  • Salivary Gland Squamous Cell Carcinoma

  • Cancer Of Head And Neck

  • Squamous Cell Carcinoma Of Oropharynx Nos

Autosomal Dominant Intellectual Developmental Disorder 31
  • Autosomal Dominant Non-Syndromic Intellectual Disability 31

  • Autosomal Dominant Mental Retardation 31

  • Mrd31

Hereditary Sensory And Autonomic Neuropathy Type 1
  • Hereditary Sensory And Autonomic Neuropathy Type I

  • Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

  • Hsan1e

  • Hsan1

  • Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

  • Hsn1e

  • Hsnie

  • Hereditary Sensory Neuropathy Type Ie

  • Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

  • Hereditary Sensory And Autonomic Neuropathy Type Ie

  • Hereditary Sensory And Autonomic Neuropathy Type 1e

  • Hereditary Sensory Neuropathy With Hearing Loss And Dementia

  • Dnmt1-Complex Disorder

  • Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

  • Hsn Ie

  • Hereditary Sensory Autonomic Neuropathy, Type 1

  • Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Medulloblastoma
  • MDB

  • Cpnet

  • Localized Primitive Neuroectodermal Tumor

  • Classic Medulloblastoma

  • Medulloblastoma Predisposition Syndrome

  • Medulloblastoma, Somatic

  • Brain Medulloblastoma

  • Cns Pnet

  • Infratentorial Primitive Neuroectodermal Tumor

  • Neuroectodermal Tumors, Primitive

  • Medulloblastomas

  • Desmoplastic Medulloblastoma

  • Medulloblastoma, With Extensive Nodularity

  • Medulloblastoma Of Unspecified Site

  • Medullomyoblastoma Of Unspecified Site

Thrombocytopenia
  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos

Wolf-Hirschhorn Syndrome
  • Pitt-Rogers-Danks Syndrome

  • WHS

  • Chromosome 4p16.3 Deletion Syndrome

  • Wittwer Syndrome

  • 4p- Syndrome

  • Pitt Syndrome

  • 4p Deletion Syndrome

  • Distal Deletion 4p

  • Distal Monosomy 4p

  • Telomeric Deletion 4p

  • Prds

  • 4p Syndrome

  • Chromosome 4p Syndrome

  • Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

  • Wolf Syndrome

  • Chromosome 4p Deletion Syndrome

  • Chromosome 4p Monosomy

  • Del Syndrome

  • Monosomy 4p

  • Partial Monosomy 4p

  • Chromosome 4 Short Arm Deletion

Alpha-Thalassemia
  • Alpha Thalassemia

  • Alpha Thalassaemia

  • Alpha Plus Thalassemia

  • Thalassemia, Alpha-

  • Thalassemias, Alpha-

  • A-Thalassemia

  • Α-Thalassemia

  • A-THAL

  • Thalassemia

  • Alpha Thalassaemia Syndrome

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

Syndromic Intellectual Disability
Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

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

Orthologs Information

Species Symbol Source ID
Bos taurus DNMT3B VGNC VGNC:28147
Rattus norvegicus DNMT3B RGD RGD:1303274
Mus musculus DNMT3B MGD MGI:1261819
Canis familiaris DNMT3B VGNC VGNC:40037
Macaca mulatta DNMT3B VGNC VGNC:71960
Felis catus DNMT3B VGNC VGNC:61563
Others DNMT3B NCBI