1. Gene
  2. KMT2A - lysine methyltransferase 2A Gene

KMT2A - lysine methyltransferase 2A Gene

中文名称:赖氨酸甲基转移酶 2A

种属: Homo sapiens

同用名: HRX; MLL; ALL1; GAS7; HTRX; MLL1; TRX1; ALL-1; CXXC7; HTRX1; MLL1A; WDSTS

基因 ID: 4297 | 基因类型: protein coding

关于 KMT2A

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,436,492-118,526,832 (from NCBI)

This gene has 33 transcripts (splice variants), 202 orthologues, 19 paralogues and is associated with 168 phenotypes. Ubiquitous expression in ovary (RPKM 12.8), lymph node (RPKM 6.8) and 25 other tissues.

功能概要

该基因编码一种转录共激活因子,在早期发育和造血过程中对调节基因表达起着重要作用。编码的蛋白质包含多个保守的功能域。这些结构域之一,SET 结构域,负责其组蛋白 H3 赖氨酸 4 (H3K4) 甲基转移酶活性,该酶介导与表观遗传转录激活相关的染色质修饰。这种蛋白质被 Taspase 1 酶加工成两个片段,MLL-C 和 MLL-N。这些片段重新结合并进一步组装成不同的多蛋白复合物,这些复合物调节特定靶基因的转录,包括许多 HOX 基因。涉及该基因的多重染色体易位是某些急性淋巴性白血病和急性髓性白血病的原因。交替剪接导致多个转录变体。[RefSeq 提供,2010 年 10 月]

This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the Enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

KMT2A 基因产物(3)

mRNA Protein Name
NM_001197104.2 NP_001184033.1 histone-lysine N-methyltransferase 2A isoform 1
NM_001412597.1 NP_001399526.1 histone-lysine N-methyltransferase 2A isoform 3
NM_005933.4 NP_005924.2 histone-lysine N-methyltransferase 2A isoform 2 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables histone H3K4 methyltransferase activity EXP
EXP: 通过实验结果推断
22012064 GOA
enables histone H3K4 methyltransferase activity IDA
IDA: 通过直接分析推断
19187761 GOA
enables histone H3K4 methyltransferase activity IMP
IMP: 通过突变表型推断
15960975 GOA
enables histone H3K4 trimethyltransferase activity IDA
IDA: 通过直接分析推断
20861184 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
10656681 GOA
enables lysine-acetylated histone binding IDA
IDA: 通过直接分析推断
19187761 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11313484 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
11313484 GOA
enables protein-cysteine methyltransferase activity IDA
IDA: 通过直接分析推断
24235145 GOA
enables unmethylated CpG binding IDA
IDA: 通过直接分析推断
16990798 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
16990798 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of MLL1 complex IDA
IDA: 通过直接分析推断
15960975 GOA
part of MLL1 complex IPI
IPI: 通过物理相互作用推断
23508102 GOA
part of histone methyltransferase complex IDA
IDA: 通过直接分析推断
19556245 GOA
located in nucleus IDA
IDA: 通过直接分析推断
11313484 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KMT2A 蛋白结构

zf-CXXC

zf-CXXC: CXXC zinc finger domain (1148 - 1194)

PHD

PHD: PHD-finger (1481 - 1532)

PHD

PHD: PHD-finger (1568 - 1629)

zf-HC5HC2H

zf-HC5HC2H: PHD-like zinc-binding domain (1903 - 1981)

FYRN

FYRN: F/Y-rich N-terminus (2026 - 2075)

FYRC

FYRC: F/Y rich C-terminus (3670 - 3752)

SET

SET: SET domain (3843 - 3947)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 3972 a.a.
蛋白主名 其他名称

histone-lysine N-methyltransferase 2A

Acute lymphocytic 1

KMT2A 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra KMT2A Q03164 CTR9 Homo sapiens Q6PD62
Anti Bait CoIP
20541477
Intra KMT2A Q03164 CTR9 Homo sapiens Q6PD62
Anti Tag CoIP
20541477
Intra KMT2A Q03164 SKP2 Homo sapiens Q13309-1
Anti Bait CoIP
20818375
Intra KMT2A Q03164 SKP2 Homo sapiens Q13309-1
Anti Tag CoIP
20818375
Intra KMT2A Q03164 ASH2L Homo sapiens Q9UBL3-3
X-Ray Diffraction
26886794
Intra KMT2A Q03164 ASH2L Homo sapiens Q9UBL3-3
GMS
26886794
Intra KMT2A Q03164 SIRT1 Homo sapiens Q96EB6
Y2H
25751424
Intra KMT2A Q03164 SIRT1 Homo sapiens Q96EB6
Anti Tag CoIP
25751424
Intra KMT2A Q03164 PAF1 Homo sapiens Q8N7H5
Anti Tag CoIP
20541477
Cross KMT2A Q03164 Crebbp Mus musculus P45481
ITC
20969867
Intra KMT2A Q03164 WDR5 Homo sapiens P61964
Anti Bait CoIP
23870121
Intra KMT2A Q03164 WDR5 Homo sapiens P61964
Solution Sedimentation
19556245
Intra KMT2A Q03164 WDR5 Homo sapiens P61964
SPR
18840606
Intra KMT2A Q03164 WDR5 Homo sapiens P61964
Methyltransferase Ass
19556245
Intra KMT2A Q03164 WDR5 Homo sapiens P61964
X-Ray Diffraction
18840606
Intra KMT2A Q03164 WDR5 Homo sapiens P61964
X-Ray Diffraction
21220120
Intra KMT2A Q03164 WDR5 Homo sapiens P61964
Anti Tag CoIP
20818375
Intra KMT2A Q03164 RBBP5 Homo sapiens Q15291
Anti Bait CoIP
15199122
Intra KMT2A Q03164 RBBP5 Homo sapiens Q15291
Solution Sedimentation
19556245
Intra KMT2A Q03164 RBBP5 Homo sapiens Q15291
Methyltransferase Ass
19556245
Intra KMT2A Q03164 RBBP5 Homo sapiens Q15291
Anti Bait CoIP
23870121
Intra KMT2A Q03164 RBBP5 Homo sapiens Q15291
GMS
26886794
Intra KMT2A Q03164 RBBP5 Homo sapiens Q15291
X-Ray Diffraction
21220120
Intra KMT2A Q03164 RBBP5 Homo sapiens Q15291
X-Ray Diffraction
26886794
Intra KMT2A Q03164 PPIE Homo sapiens Q9UNP9
NMR
20541251
Intra KMT2A Q03164 PPIE Homo sapiens Q9UNP9
Y2H
11313484
Intra KMT2A Q03164 PPIE Homo sapiens Q9UNP9
Pull Down
11313484
Cross KMT2A Q03164 Bmal1 Mus musculus Q9WTL8
Anti Tag CoIP
21113167
Intra KMT2A Q03164 H3C1 Homo sapiens P68431
X-Ray Diffraction
20541251
Intra KMT2A Q03164 H3C1 Homo sapiens P68431
NMR
20541251
Cross KMT2A Q03164 Clock Mus musculus O08785
Anti Tag CoIP
21113167
Intra KMT2A Q03164 KAT8 Homo sapiens Q9H7Z6
Pull Down
15960975
Intra KMT2A Q03164 CDC73 Homo sapiens Q6P1J9
Anti Tag CoIP
20541477
Intra KMT2A Q03164 CDC73 Homo sapiens Q6P1J9
Anti Bait CoIP
20541477
Intra KMT2A Q03164 MEN1 Homo sapiens O00255-2
X-Ray Diffraction
22327296
Intra KMT2A Q03164 MEN1 Homo sapiens O00255-2
GMS
22327296
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Wiedemann-Steiner Syndrome

WDSTS

Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay

Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome

Wiedemann Grosse Dibbern Syndrome

Kmt2a-Related Neurodevelopmental Disorder

Hairy Elbows Short Stature Facial Dysmorphism And Developmental Delay

Hypertrichosis Cubiti Facial Dysmorphism And Developmental Delay

Wss

Growth Deficiency And Mental Retardation With Facial Dysmorphism

Acute Myeloid Leukemia With T(9;11)(P22;Q23)

Aml With T(9

11)(P22

Q23)

Acute Megakaryocytic Leukemia

Acute Megakaryoblastic Leukemia

Acute Megakaryoblastic Leukaemia

Megakaryocytic Myelosis

Thrombocytic Leukaemia

Amkl

Aml M7

Acute Myeloblastic Leukemia Type 7

Acute Myeloid Leukemia M7

Megakaryoblastic Leukemia Acute

Leukemia, Megakaryoblastic, Acute

Acute Myeloid Leukaemia, M7

Acute Megakaryocytic Leukaemia

Acute Megakaryoblastic Leukaemia, Fab M7

Fab M7

Malignant Megakaryocytosis

M7 - Acute Megakaryoblastic Leukaemia

Megakaryoblastic Leukaemia

Megakaryocytic Leukaemia

Acute Megakaryoblastic Leukaemia, Nos

Acute Megakaryoblastic Leukaemia Without Mention Of Remission

Mixed Phenotype Acute Leukemia With T

Mpal With T

Kmt2a Rearranged

Mpal With T

Mll Rearranged

Mixed Phenotype Acute Leukemia With T(9;22)(Q34.1;Q11.2)

Mpal With T(9

22)(Q34.1

Q11.2)

Bcr-Abl1

Rare Genetic Intellectual Disability
Kabuki Syndrome 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1

Acute Megakaryoblastic Leukemia Without Down Syndrome

Non-Ds-Amkl

Acute Biphenotypic Leukemia

Mixed Phenotype Acute Leukemia

Acute Leukemia Of Ambiguous Lineage

Acute Undifferentiated Leukemia

Acute Leukemia Of Indeterminate Lineage

Hybrid Acute Leukemia

Mixed Lineage Acute Leukemia

All With Myeloid Markers

Aml With Lymphoid Markers

Acute Leukemia Of Undetermined Lineage

Bal

Biphenotypic Acute Leukemia

Undifferentiated Acute Leukemia

Mpal

Acute Myeloid Leukemia, Minimal Differentiation, Fab M0

Leukemia, Biphenotypic, Acute

Cornelia De Lange Syndrome 1

De Lange Syndrome

CDLS1

Cdl

Cdls

Typus Degenerativus Amstelodamensis

Brachmann-De Lange Syndrome

Bdls

Amstelodamensis Typus Degenerativus

Cornelia De Lange Syndrome, Type 1

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality
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

Acute Myeloid Leukemia With Mll Rearrangement

Acute Myeloid Leukemia With Kmt2a/Mll Rearrangement

Acute Myeloid Leukemia, 11q23 Abnormalities

Acute Myeloid Leukemia With 11q23 Abnormalities

Aml With 11q23 Abnormalities

Chronic Neutrophilic Leukemia

Cnl

Leukemia Neutrophilic Chronic

Rubinstein Taybi Like Syndrome

Broad Terminal Phalanges Of The Thumbs And Great Toes, Antimongoloid Slant Of The Palpebral Fissures, And Characteristic Beaked Noses

Hairy Elbows

Hypertrichosis Cubiti

Hairy Elbows Syndrome

Macdermot-Patton-Williams Syndrome

B-Lymphoblastic Leukemia/Lymphoma

B Lymphoblastic Leukemia/Lymphoma

B-All

Precursor B Lymphoblastic Lymphoma/Leukemia

C-All

Lymphoblastic Lymphoma, Nos

Common Precursor B All

Lymphoblastic B-Cell Lymphoma

Pro-B All

B-Precursor Lymphoma

Lbl - [Lymphoblastic Lymphoma]

Leukemia, Acute Monocytic

Acute Monocytic Leukemia

Acute Monoblastic Leukemia And Acute Monocytic Leukemia

Acute Monocytic Leukaemia

Acute Monocytic Leukaemia Without Mention Of Remission

Acute Monocytic Leukemia Without Mention Of Remission

Acute Monocytic Leukemia, Fab M5

Acute Monocytic Leukemia, Morphology

Leukemia, Monocytic, Acute

M5b Acute Differentiated Monocytic Leukemia

Hypertrichosis
Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Acute Myelomonocytic Leukemia

Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16

16)(P13

Q22)

Aml M4

Ammol

Acute Myeloblastic Leukemia Type 4

Aml With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16

16)(P13

Q22)

Aml-M4

Aml With Inv(16)(P13.1q22) Or T(16

16)(P13.1

Q22)

Cbfb-Myh11

Leukemia Myelomonocytic Acute

Leukemia, Myelomonocytic, Acute

Acute Myelomonocytic Leukaemia Without Mention Of Remission

Myelomonocytic Leukaemia Nos

Chronic Fungal Otitis Externa

Chronic Mycotic Otitis Externa

Chromosomal Triplication

Trisomy

Childhood Acute Lymphocytic Leukemia

Childhood Acute Lymphoblastic Leukemia

Childhood All

Pediatric Acute Lymphoblastic Leukemia

Lymphoblastic Leukemia Acute Childhood

Myeloid Sarcoma

Granulocytic Sarcoma

Chloroma

Extramedullary Myeloid Tumor

Sarcoma, Granulocytic

Sarcoma Granulocytic

Sarcoma, Myeloid

Myelosarcoma

Myeloid Sarcoma Disease

Myeloid Sarcoma Nos

Myeloid Sarcoma Without Mention Of Remission

Hematologic Cancer

Hematologic Neoplasm

Hematologic Neoplasms

Hematologic Malignancies

Blood Cancer

Hematologic Malignancy

Hematological Tumors

Hematopoietic And Lymphoid System Tumor

Hematopoietic Cancer

Hematopoietic Neoplasm

Hematopoietic Tumors

Malignant Hematopoietic Neoplasm

Liquid Tumor

Hematopoietic Neoplasms

Myeloid Leukemia

Myeloid Leukaemia

Leukaemia Myelogenous

Leukemia Myelogenous

Myeloid Granulocytic Leukaemia

Myeloid Granulocytic Leukemia

Non-Lymphocytic Leukemia

Leukemia, Myeloid

Granulocytic Leukaemia

Myelogenous Leukaemia

Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Childhood Leukemia
Neonatal Leukemia
Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Testicular Leukemia
Monocytic Leukemia

Monocytic Leukaemia

Schilling'S Leukaemia

Schilling'S Leukemia

M5b Acute Differentiated Monocytic Leukemia

Childhood Acute Myeloid Leukemia

Childhood Acute Myeloid Leukaemia

Paediatric Acute Myeloid Leukaemia

Pediatric Acute Myeloid Leukemia

Lymphoblastic Lymphoma

Lymphoma, Lymphoblastic

Lymphoma Lymphoblastic

Precursor Cell Lymphoblastic Lymphoma

Precursor Cell Lymphoblastic Leukemia Lymphoma

Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly

Central Nervous System Leukemia

Leukemia Of The Cns

B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1

B-All With Bcr-Abl1

B-Lymphoblastic Leukemia/Lymphoma With T(9

22)(Q34.1

Q11.2)

Bcr-Abl1

B Lymphoblastic Leukemia/Lymphoma With T(9

22)(Q34.1

Q11.2)

Bcr-Abl1

Intellectual Developmental Disorder, Autosomal Dominant 10

MRD10

Mental Retardation, Autosomal Dominant 10

Autosomal Dominant Non-Syndromic Intellectual Disability 10

Autosomal Dominant Intellectual Developmental Disorder 10

Autosomal Dominant Mental Retardation 10

Mental Retardation, Autosomal Dominant, Type 10

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

Mixed Phenotype Acute Leukemia, T/Myeloid

Doid:0081039

Bladder Urothelial Carcinoma

Bladder Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Bladder

Transitional Cell Carcinoma Of The Bladder

Urinary Bladder Urothelial Carcinoma

Urothelial Bladder Carcinoma

Carcinoma Transitional Cell Bladder

Tcc - [Transitional Cell Carcinoma] Of Bladder

Pancytopenia
Childhood Acute Megakaryoblastic Leukemia

Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia

Precursor T-Cell Acute Lymphoblastic Leukemia

T-All

Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

Precursor T-Cell Acute Lymphocytic Leukemia

Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Adult T-Cell Lymphoma/Leukemia

Syndromic X-Linked Intellectual Disability Nascimento Type

Mental Retardation, X-Linked Syndromic, Nascimento-Type

X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome

Mixed Phenotype Acute Leukemia, B/Myeloid

Doid:0081038

Non-Syndromic X-Linked Intellectual Disability 93

Mrx93

X-Linked Mental Retardation With Macrocephaly

Kbg Syndrome

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Adult Acute Lymphocytic Leukemia

Adult Acute Lymphoid Leukemia

Adult All

Myeloproliferative Neoplasm

Myeloproliferative Disorder

Chronic Myeloproliferative Disease

Myeloproliferative Neoplasms

Chronic Myeloproliferative Disorder

Cmpd

Cmpd, U

Chronic Myeloproliferative Disorders

Mpd

Mpn

Myeloproliferative Disorders

Myeloproliferative Disease

Campomelic Dysplasia

Kleefstra Syndrome

9q34.3 Microdeletion Syndrome

9q Subtelomeric Deletion Syndrome

9q- Syndrome

Chromosome 9q Deletion Syndrome

9q34.3 Deletion Syndrome

9qstds

Chromosome 9q34.3 Deletion Syndrome

Chromosome 9, Trisomy 9q

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Myeloproliferative Syndrome, Transient

Transient Abnormal Myelopoiesis

Transient Myeloproliferative Syndrome

Transient Myeloproliferative Disease

Mst

Tam

Leukemia, Transient, Of Down Syndrome

Tmd

Leukemia, Transient

Transient Leukemia

Transient Leukemia Of Down Syndrome

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia

Chronic Myelogenous Leukemia

CML

Chronic Granulocytic Leukemia

Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

Chronic Myeloid Leukaemia

Chronic Granulocytic Leukaemia

Chronic Myelogenous Leukaemia

Myeloid Leukemia, Chronic

Leukemia, Chronic Myelogenous

Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

Cml - Chronic Myelogenous Leukemia

Cgl

Chronic Myelocytic Leukemia

Leukemia, Chronic Myeloid, Atypical

ACML

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Myeloid Leukemia Chronic

Leukemia, Myeloid, Chronic

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Cml- [Chronic Myeloid Leukaemia]

Cgl - [Chronic Granulocytic Leukaemia]

Chronic Myelocytic Leukaemia

Lymphoma, Non-Hodgkin, Familial

Non-Hodgkin Lymphoma

Lymphoma, Non-Hodgkin

NHL

Lymphoma, Non-Hodgkin, Somatic

Lymphoma, Follicular, Somatic

Familial Non-Hodgkin Lymphoma

Lymphoma Non-Hodgkins

Follicular Lymphoma, Somatic

Lymphosarcoma

Non-Hodgkins Lymphoma

Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome

Broad Thumb-Hallux Syndrome

Chromosome 16p13.3 Deletion Syndrome

Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

Rubinstein Syndrome

Broad Thumbs-Halluces Syndrome

Rsts

Rubinstein-Taybi Deletion Syndrome

Rsts Deletion Syndrome

Proximal Chromosome 16p13.3 Deletion Syndrome

16p13.3 Deletion Syndrome

Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability

Rts

Colon Leiomyoma

Colonic Leiomyoma

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic

JMML

Leukemia, Juvenile Myelomonocytic, Somatic

Juvenile Chronic Myelomonocytic Leukemia

Juvenile Chronic Myelogenous Leukemia

Leukemia, Myelomonocytic, Juvenile

Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell

Syndromic Intellectual Disability
疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Bos taurus KMT2A VGNC VGNC:30690
Macaca mulatta KMT2A VGNC VGNC:101297
Canis familiaris KMT2A VGNC VGNC:42489
Rattus norvegicus KMT2A RGD RGD:1586165
Mus musculus KMT2A MGD MGI:96995