KMT2B (lysine methyltransferase 2B)
|
| Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9757 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Lysine methyltransferase 2B |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
KMT2B |
SynonymsGene synonyms aliases
|
CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, MRD68, TRX2, WBP-7, WBP7 |
ChromosomeChromosome number
|
19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19q13.12 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal |
SNPsSNP information provided by dbSNP.
|
| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs539483328 |
->C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs748888652 |
C>G,T |
Pathogenic |
5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, intron variant, stop gained, genic upstream transcript variant |
| rs763183959 |
C>-,CC |
Pathogenic |
5 prime UTR variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
| rs764234724 |
->C |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs779863547 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs1057519278 |
C>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
| rs1057519279 |
C>T |
Pathogenic-likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant |
| rs1057519280 |
A>G |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
| rs1057519281 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant, genic upstream transcript variant |
| rs1057519282 |
->C |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant |
| rs1057519283 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant |
| rs1057519284 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
| rs1085307751 |
A>C |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
| rs1459799356 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1555727493 |
->GGCGGGCGGCGGC |
Pathogenic |
5 prime UTR variant, upstream transcript variant, non coding transcript variant, initiator codon variant, genic upstream transcript variant, frameshift variant |
| rs1555729045 |
C>T |
Pathogenic |
Stop gained, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
| rs1555729827 |
C>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555730069 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs1555730957 |
C>A,T |
Pathogenic, likely-benign |
Non coding transcript variant, coding sequence variant, synonymous variant, stop gained |
| rs1555731819 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs1555731832 |
G>A |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs1555731976 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
| rs1555732564 |
TCCCCCCAGACGTTCCCGTCGTCCCAGC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
| rs1555732987 |
->GCACGCCTCCTTCGGGGCCAGG |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
| rs1555734445 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
| rs1555734923 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant |
| rs1568374482 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs1568377293 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1568377563 |
ATG>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion, downstream transcript variant, genic downstream transcript variant |
| rs1568379151 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
| rs1599665134 |
->GGGCGGCGGC |
Pathogenic |
5 prime UTR variant, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
| rs1599668553 |
->A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1599669836 |
->AGCCC |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1599676503 |
AG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1599677213 |
GGGCGGG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1599679995 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1599680351 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1599687853 |
C>T |
Likely-pathogenic |
Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant |
| rs1599689373 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs1599695744 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
| GO ID |
Ontology |
Definition |
Evidence |
Reference |
| GO:0005515 |
Function |
Protein binding |
IPI |
17021013, 17474147, 18840606, 19047629, 19433796, 22266653, 22665483, 23995757, 24788516, 24981860, 26886794, 27705803, 28514442 |
| GO:0005634 |
Component |
Nucleus |
IDA |
|
| GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
| GO:0008270 |
Function |
Zinc ion binding |
IDA |
29276034 |
| GO:0035097 |
Component |
Histone methyltransferase complex |
IBA |
21873635 |
| GO:0035097 |
Component |
Histone methyltransferase complex |
IDA |
|
| GO:0042800 |
Function |
Histone methyltransferase activity (H3-K4 specific) |
IBA |
21873635 |
| GO:0042800 |
Function |
Histone methyltransferase activity (H3-K4 specific) |
IDA |
|
| GO:0044648 |
Process |
Histone H3-K4 dimethylation |
IDA |
25561738 |
| GO:0045322 |
Function |
Unmethylated CpG binding |
IDA |
29276034 |
| GO:0045652 |
Process |
Regulation of megakaryocyte differentiation |
TAS |
|
| GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IBA |
21873635 |
| GO:0051568 |
Process |
Histone H3-K4 methylation |
IBA |
21873635 |
| GO:0051568 |
Process |
Histone H3-K4 methylation |
IMP |
17166833 |
| GO:0097692 |
Process |
Histone H3-K4 monomethylation |
IDA |
25561738 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
| Protein
|
| UniProt ID |
Q9UMN6 |
| Protein name |
Histone-lysine N-methyltransferase 2B (Lysine N-methyltransferase 2B) (EC 2.1.1.364) (Myeloid/lymphoid or mixed-lineage leukemia protein 4) (Trithorax homolog 2) (WW domain-binding protein 7) (WBP-7) |
| Protein function |
Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K |
| PDB |
3UVM
,
4ERZ
,
4PZI
,
7BRE
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF02008 |
zf-CXXC |
958 → 1005 |
CXXC zinc finger domain |
Domain |
| PF00628 |
PHD |
1251 → 1303 |
PHD-finger |
Domain |
| PF00628 |
PHD |
1337 → 1396 |
PHD-finger |
Domain |
| PF13771 |
zf-HC5HC2H |
1608 → 1686 |
|
Domain |
| PF05964 |
FYRN |
1733 → 1780 |
F/Y-rich N-terminus |
Family |
| PF05965 |
FYRC |
2411 → 2493 |
F/Y rich C-terminus |
Family |
| PF00856 |
SET |
2586 → 2691 |
SET domain |
Family |
|
Sequence |
MAAAAGGGSCPGPGSARGRFPGRPRGAGGGGGRGGRGNGAERVRVALRRGGGATGPGGAE
PGEDTALLRLLGLRRGLRRLRRLWAGPRVQRGRGRGRGRGWGPSRGCVPEEESSDGESDE
EEFQGFHSDEDVAPSSLRSALRSQRGRAPRGRGRKHKTTPLPPPRLADVAPTPPKTPARK
RGEEGTERMVQALTELLRRAQAPQAPRSRACEPSTPRRSRGRPPGRPAGPCRRKQQAVVV
AEAAVTIPKPEPPPPVVPVKHQTGSWKCKEGPGPGPGTPRRGGQSSRGGRGGRGRGRGGG
LPFVIKFVSRAKKVKMGQLSLGLESGQGQGQHEESWQDVPQRRVGSGQGGSPCWKKQEQK
LDDEEEEKKEEEEKDKEGEEKEERAVAEEMMPAAEKEEAKLPPPPLTPPAPSPPPPLPPP
STSPPPPLCPPPPPPVSPPPLPSPPPPPAQEEQEESPPPVVPATCSRKRGRPPLTPSQRA
EREAARAGPEGTSPPTPTPSTATGGPPEDSPTVAPKSTTFLKNIRQFIMPVVSARSSRVI
KTPRRFMDEDPPKPPKVEVSPVLRPPITTSPPVPQEPAPVPSPPRAPTPPSTPVPLPEKR
RSILREPTFRWTSLTRELPPPPPAPPPPPAPSPPPAPATSSRRPLLLRAPQFTPSEAHLK
IYESVLTPPPLGAPEAPEPEPPPADDSPAEPEPRAVGRTNHLSLPRFAPVVTTPVKAEVS
PHGAPALSNGPQTQAQLLQPLQALQTQLLPQALPPPQPQLQPPPSPQQMPPLEKARIAGV
GSLPLSGVEEKMFSLLKRAKVQLFKIDQQQQQKVAASMPLSPGGQMEEVAGAVKQISDRG
PVRSEDESVEAKRERPSGPESPVQGPRIKHVCRHAAVALGQARAMVPEDVPRLSALPLRD
RQDLATEDTSSASETESVPSRSRRGKVEAAGPGGESEPTGSGGTLAHTPRRSLPSHHGKK
MRMARCGHCRGCLRVQDCGSCVNCLDKPKFGGPNTKKQCCVYRKCDKIEARKMERLAKKG
RTIVKTLLPWDSDESPEASPGPPGPRRGAGAGGPREEVVAHPGPEEQDSLLQRKSARRCV
KQRPSYDIFEDSDDSEPGGPPAPRRRTPRENELPLPEPEEQSRPRKPTLQPVLQLKARRR
LDKDALAPGPFASFPNGWTGKQKSPDGVHRVRVDFKEDCDLENVWLMGGLSVLTSVPGGP
PMVCLLCASKGLHELVFCQVCCDPFHPFCLEEAERPLPQHHDTWCCRRCKFCHVCGRKGR
GSKHLLECERCRHAYHPACLGPSYPTRATRKRRHWICSACVRCKSCGATPGKNWDVEWSG
DYSLCPRCTQLYEKGNYCPICTRCYEDNDYESKMMQCAQCDHWVHAKCEGLSDEDYEILS
GLPDSVLYTCGPCAGAAQPRWREALSGALQGGLRQVLQGLLSSKVVGPLLLCTQCGPDGK
QLHPGPCGLQAVSQRFEDGHYKSVHSFMEDMVGILMRHSEEGETPDRRAGGQMKGLLLKL
LESAFGWFDAHDPKYWRRSTRLPNGVLPNAVLPPSLDHVYAQWRQQEPETPESGQPPGDP
SAAFQGKDPAAFSHLEDPRQCALCLKYGDADSKEAGRLLYIGQNEWTHVNCAIWSAEVFE
ENDGSLKNVHAAVARGRQMRCELCLKPGATVGCCLSSCLSNFHFMCARASYCIFQDDKKV
FCQKHTDLLDGKEIVNPDGFDVLRRVYVDFEGINFKRKFLTGLEPDAINVLIGSIRIDSL
GTLSDLSDCEGRLFPIGYQCSRLYWSTVDARRRCWYRCRILEYRPWGPREEPAHLEAAEE
NQTIVHSPAPSSEPPGGEDPPLDTDVLVPGAPERHSPIQNLDPPLRPDSGSAPPPAPRSF
SGARIKVPNYSPSRRPLGGVSFGPLPSPGSPSSLTHHIPTVGDPDFPAPPRRSRRPSPLA
PRPPPSRWASPPLKTSPQLRVPPPTSVVTALTPTSGELAPPGPAPSPPPPEDLGPDFEDM
EVVSGLSAADLDFAASLLGTEPFQEEIVAAGAMGSSHGGPGDSSEEESSPTSRYIHFPVT
VVSAPGLAPSATPGAPRIEQLDGVDDGTDSEAEAVQQPRGQGTPPSGPGVVRAGVLGAAG
DRARPPEDLPSEIVDFVLKNLGGPGDGGAGPREESLPPAPPLANGSQPSQGLTASPADPT
RTFAWLPGAPGVRVLSLGPAPEPPKPATSKIILVNKLGQVFVKMAGEGEPVPPPVKQPPL
PPTISPTAPTSWTLPPGPLLGVLPVVGVVRPAPPPPPPPLTLVLSSGPASPPRQAIRVKR
VSTFSGRSPPAPPPYKAPRLDEDGEASEDTPQVPGLGSGGFSRVRMKTPTVRGVLDLDRP
GEPAGEESPGPLQERSPLLPLPEDGPPQVPDGPPDLLLESQWHHYSGEASSSEEEPPSPD
DKENQAPKRTGPHLRFEISSEDGFSVEAESLEGAWRTLIEKVQEARGHARLRHLSFSGMS
GARLLGIHHDAVIFLAEQLPGAQRCQHYKFRYHQQGEGQEEPPLNPHGAARAEVYLRKCT
FDMFNFLASQHRVLPEGATCDEEEDEVQLRSTRRATSLELPMAMRFRHLKKTSKEAVGVY
RSAIHGRGLFCKRNIDAGEMVIEYSGIVIRSVLTDKREKFYDGKGIGCYMFRMDDFDVVD
ATMHGNAARFINHSCEPNCFSRVIHVEGQKHIVIFALRRILRGEELTYDYKFPIEDASNK
LPCNCGAKRCRRFLN
|
|
| Sequence length |
2715 |
| Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
| Associated diseases
|
| Causal |
| Disease name |
Disease term |
dbSNP ID |
References |
| Dystonia |
Dystonia Disorders, Idiopathic familial dystonia, Adult-Onset Dystonias, Adult-Onset Idiopathic Focal Dystonias, Adult-Onset Idiopathic Torsion Dystonias, Autosomal Dominant Familial Dystonia, Autosomal Recessive Familial Dystonia, Childhood Onset Dystonias, Dystonia, Primary, Dystonia, Secondary, Dystonias, Sporadic, Familial Dystonia, DYSTONIA 28, CHILDHOOD-ONSET |
rs1586456293, rs1586456350, rs1586456278, rs267607112, rs137852968, rs80358233, rs121434410, rs730880307, rs104894433, rs104894437, rs2140127822, rs104894438, rs2140074226, rs104894439, rs104894440, rs2140073990, rs104894441, rs104894444, rs80356532, rs80356533, rs80356535, rs80356536, rs80356537, rs267606670, rs104893665, rs121917747, rs121909739, rs80359818, rs387907176, rs387907177, rs387907281, rs387907282, rs398122887, rs387907312, rs587776922, rs1565132917, rs587776923, rs1277790116, rs398122924, rs398122925, rs398122926, rs398122927, rs398122928, rs587776983, rs397515577, rs587777428, rs587777771, rs397515382, rs606231443, rs606231442, rs606231441, rs549006436, rs606231439, rs606231437, rs606231435, rs606231434, rs557052809, rs606231432, rs542652468, rs786205675, rs775863165, rs767517186, rs139260335, rs796053263, rs796053254, rs767399782, rs864309572, rs869320661, rs779204655, rs879253875, rs886039379, rs1555865401, rs587777468, rs886041396, rs1057518117, rs782175860, rs1057518953, rs113371321, rs1057518942, rs1057519278, rs1057519279, rs1057519280, rs1057519281, rs1057519282, rs1057519283, rs1057519284, rs988395114, rs1060500993, rs1064795234, rs1064797245, rs1064797344, rs1131691345, rs1131691307, rs749414480, rs1555358507, rs1555727493, rs1555362835, rs1555859571, rs763183959, rs1555859157, rs1555731819, rs879255368, rs1555731976, rs1554599616, rs1554599983, rs1554599712, rs1555360050, rs760768475, rs1566687487, rs1568379151, rs1563644456, rs1563646198, rs1563644810, rs1568853466, rs1573882268, rs1252185897, rs1586456404, rs1590612392, rs1590658782, rs1599706613, rs1599715341, rs1599719130, rs1590168246, rs1590169710, rs1599689373, rs1599712456, rs1599712523, rs1599719534, rs1586457084, rs1478393931, rs748888652, rs1599679995, rs1599680351, rs1459799356, rs1599687853, rs1599706511, rs1599725621, rs1586459408, rs1596050386, rs1599676503, rs1566687244, rs1586457060, rs1599665134, rs1599668553, rs1670619549, rs1802674870, rs1802756440, rs2075090666, rs1969024891, rs1802672249, rs2039866854 |
27992417, 31216378, 27839873, 28520167 |
| Precocious puberty |
Precocious Puberty |
rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505 |
|
| Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
|
|
| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Anarthria speech disorder |
Anarthria speech disorder |
|
|
| Choreoathetosis |
Choreoathetosis |
|
|
| Dysarthria |
Dysarthria |
|
|
| Dysgraphia |
Dysgraphia |
|
|
| Dyskinesia |
Dyskinesias, Paroxysmal |
|
|
| Dysphagia |
Deglutition Disorders |
|
|
| Focal dystonia |
Focal Dystonia |
|
|
| High palate |
Byzanthine arch palate |
|
|
| Laryngeal dystonia |
Laryngeal dystonia |
|
|
| Liver carcinoma |
Liver carcinoma |
|
22634754 |
| Micrognathism |
Micrognathism |
|
|
| Movement disorders |
Movement Disorders |
|
10409430, 27320412, 21892160, 27992417, 19344873, 23426673, 25405613, 16540515, 27839873 |
| Pycnodysostosis |
Pseudodystonia |
|
|
| Retinal lattice degeneration |
Retinal lattice degeneration |
|
|
| Retrocollis |
Retrocollis |
|
|
| Sinus tachycardia |
Sinus Tachycardia |
|
|
| Sinusitis |
Recurrent sinusitis |
|
|
| Writer`s cramp |
Writer`s Cramp |
|
|
|
|
|
