KMT2C (GeneID: 58508) | Homo sapiens
Description: lysine methyltransferase 2C [Source:HGNC Symbol;Acc:HGNC:13726]
Synonyms: HALR, MLL3
Other ID(s): HGNC:13726, ENSG00000055609
Protein Accession Numbers: ENST00000355193, ENST00000558665, ENST00000452749, ENST00000418061, ENST00000262189.6, ENST00000558084, ENST00000424877, ENST00000360104, NP_733751, ENST00000262189, ENST00000485655, ENST00000418673
Statistics: gnomAD(1829)
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.
ENST00000262189 ENST00000355193 ENST00000360104 ENST00000418061 ENST00000418673 ENST00000424877 ENST00000452749 ENST00000485655 ENST00000558084 ENST00000558665 NP_733751


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
PF00628 PHD PHD-finger 1003-1054 CL0390 zf-FYVE-PHD Mus musculus
PF00628 PHD PHD-finger 953-1003 CL0390 zf-FYVE-PHD Mus musculus
PF00628 PHD PHD-finger 389-437 CL0390 zf-FYVE-PHD Mus musculus
PF00856 SET SET domain 4775-4880 Mus musculus
PF05964 FYRN F/Y-rich N-terminus 4544-4595 Mus musculus
PF05965 FYRC F/Y rich C-terminus 4601-4685 Mus musculus
PF13771 zf-HC5HC2H PHD-like zinc-binding domain 251-330 CL0390 zf-FYVE-PHD Mus musculus
PF13832 zf-HC5HC2H_2 PHD-zinc-finger like domain 4393-4509 CL0390 zf-FYVE-PHD Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Adenocarcinoma Neoplasms ; 0.604 0.621
Malignant neoplasm of urinary bladder Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.604 0.621
Bladder Neoplasm Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.604 0.621
Carcinoma, Transitional Cell Neoplasms ; 0.604 0.621
Adenoid Cystic Carcinoma Neoplasms ; 0.604 0.621
Leukemia, Myelocytic, Acute Neoplasms ; 0.604 0.621
Liver Diseases, Parasitic Parasitic Diseases ; Digestive System Diseases ; 0.604 0.621
Malignant neoplasm of stomach Neoplasms ; Digestive System Diseases ; 0.604 0.621
Acute Myeloid Leukemia, M1 Neoplasms ; 0.604 0.621
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.604 0.621
Sezary Syndrome Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.604 0.621
Stomach Neoplasms Neoplasms ; Digestive System Diseases ; 0.604 0.621
Adenocarcinoma, Basal Cell Neoplasms ; 0.604 0.621
Adenocarcinoma, Oxyphilic Neoplasms ; 0.604 0.621
Carcinoma, Cribriform Neoplasms ; 0.604 0.621
Carcinoma, Granular Cell Neoplasms ; 0.604 0.621
Adenocarcinoma, Tubular Neoplasms ; 0.604 0.621
Cholangiocarcinoma Neoplasms ; 0.604 0.621
Squamous cell carcinoma of esophagus Neoplasms ; Digestive System Diseases ; 0.604 0.621
Intrahepatic Cholangiocarcinoma Neoplasms ; 0.604 0.621
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.604 0.621
Kleefstra Syndrome Musculoskeletal Diseases ; Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.604 0.621
Colorectal Cancer Neoplasms ; Digestive System Diseases ; 0.604 0.621
Neurodevelopmental Disorders Mental Disorders ; 0.604 0.621
Hereditary Diffuse Gastric Cancer Neoplasms ; Digestive System Diseases ; 0.604 0.621
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.604 0.621
Liver carcinoma Neoplasms ; Digestive System Diseases ; 0.604 0.621
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.604 0.621
Extrahepatic Cholangiocarcinoma Neoplasms ; 0.604 0.621
NO RESULT FOUND
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