KMT2A (GeneID: 4297) | Homo sapiens
Description: lysine methyltransferase 2A [Source:HGNC Symbol;Acc:HGNC:7132]
Synonyms: MLL1A, HTRX1, ALL-1, WDSTS, MLL1, HRX, RX1, MLL, CXXC7
Other ID(s): HGNC:7132, ENSG00000118058
Protein Accession Numbers: ENST00000392873, ENST00000593514, ENST00000601525, ENST00000354520, ENST00000533790, ENST00000599178, ENST00000529852, ENST00000595462, NP_005924, ENST00000389506, ENST00000534358.1, ENST00000601231, ENST00000532204, ENST00000597155, ENST00000527869, ENST00000594623, NP_001184033, ENST00000354520.4, ENST00000534358, ENST00000600241, ENST00000531904, ENST00000597114
Statistics: gnomAD(2246) COSMIC(1650)
gnomAD Variants By Annotation

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000354520 ENST00000389506 ENST00000392873 ENST00000527869 ENST00000529852 ENST00000531904 ENST00000532204 ENST00000533790 ENST00000534358 ENST00000593514 ENST00000594623 ENST00000595462 ENST00000597114 ENST00000597155 ENST00000599178 ENST00000600241 ENST00000601231 ENST00000601525 NP_001184033 NP_005924


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Adenocarcinoma Neoplasms ; 0.46 0.793
Autosome Abnormalities Pathological Conditions, Signs and Symptoms ; 0.46 0.793
Malignant neoplasm of urinary bladder Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.46 0.793
Bladder Neoplasm Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.46 0.793
Burkitt Lymphoma Virus Diseases ; Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.46 0.793
Carcinoma, Transitional Cell Neoplasms ; 0.46 0.793
Chromosome Aberrations Pathological Conditions, Signs and Symptoms ; 0.46 0.793
Cytopenia N/A 0.46 0.793
leukemia Neoplasms ; 0.46 0.793
Lymphoid leukemia Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.46 0.793
Childhood Acute Lymphoblastic Leukemia Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.46 0.793
Leukemia, Lymphocytic, Acute, L2 Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.46 0.793
Acute biphenotypic leukemia Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.46 0.793
Acute monocytic leukemia Neoplasms ; 0.46 0.793
Leukemia, Monocytic, Chronic Neoplasms ; 0.46 0.793
Leukemia, Myelocytic, Acute Neoplasms ; 0.46 0.793
Myeloid Leukemia Neoplasms ; 0.46 0.793
Acute myelomonocytic leukemia Neoplasms ; 0.46 0.793
Malignant neoplasm of stomach Neoplasms ; Digestive System Diseases ; 0.46 0.793
Acute Myeloid Leukemia, M1 Neoplasms ; 0.46 0.793
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.46 0.793
Schizophrenia Mental Disorders ; 0.46 0.793
Stomach Neoplasms Neoplasms ; Digestive System Diseases ; 0.46 0.793
Small cell carcinoma of lung Neoplasms ; Respiratory Tract Diseases ; 0.46 0.793
Congenital anemia N/A 0.46 0.793
Adenocarcinoma, Basal Cell Neoplasms ; 0.46 0.793
Adenocarcinoma, Oxyphilic Neoplasms ; 0.46 0.793
Carcinoma, Cribriform Neoplasms ; 0.46 0.793
Carcinoma, Granular Cell Neoplasms ; 0.46 0.793
Adenocarcinoma, Tubular Neoplasms ; 0.46 0.793
Cornelia De Lange Syndrome Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.46 0.793
Acute Undifferentiated Leukemia N/A 0.46 0.793
Acute bilineal leukemia N/A 0.46 0.793
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.46 0.793
Undifferentiated type acute leukemia N/A 0.46 0.793
Precursor B-cell lymphoblastic leukemia N/A 0.46 0.793
Acute myeloid leukemia, 11q23 abnormalities N/A 0.46 0.793
Neurodevelopmental Disorders Mental Disorders ; 0.46 0.793
Hereditary Diffuse Gastric Cancer Neoplasms ; Digestive System Diseases ; 0.46 0.793
Growth Deficiency and Mental Retardation with Facial Dysmorphism Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.46 0.793
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.46 0.793
Precursor Cell Lymphoblastic Leukemia Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.46 0.793
Liver carcinoma Neoplasms ; Digestive System Diseases ; 0.46 0.793
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.46 0.793
NO RESULT FOUND
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