Gene
kmt2e
- ID
- ZDB-GENE-030131-4120
- Name
- lysine (K)-specific methyltransferase 2E
- Symbol
- kmt2e Nomenclature History
- Previous Names
-
- mll5
- wu:fc74b02
- zgc:64223
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable methylated histone binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to act upstream of or within chromatin organization. Predicted to be part of Rpd3L-Expanded complex and Set3 complex. Is expressed in central nervous system; intermediate cell mass of mesoderm; and telencephalon. Human ortholog(s) of this gene implicated in autistic disorder and cervical cancer. Orthologous to human KMT2E (lysine methyltransferase 2E (inactive)).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64223 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Thyme et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| a226 | Allele with multiple variants | Unknown | Unknown | CRISPR | |
| sa13142 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20276 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa45175 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| uab455 | Allele with multiple variants | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-kmt2e | (2) | |
| CRISPR2-kmt2e | (2) | |
| CRISPR3-kmt2e | (2) | |
| CRISPR4-kmt2e | (2) | |
| MO1-kmt2e | N/A | Huang et al., 2013 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| O'Donnell-Luria-Rodan syndrome | 618512 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | KMT2E, SET domain | SET domain | SET domain superfamily | Zinc finger, FYVE/PHD-type | Zinc finger, PHD-finger | Zinc finger, PHD-type | Zinc finger, PHD-type, conserved site | Zinc finger, RING/FYVE/PHD-type |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BC51 | InterPro | 1598 | ||||||||
| UniProtKB:A0A8N7UVB9 | InterPro | 1631 | ||||||||
| UniProtKB:A0A8M9Q6C7 | InterPro | 1655 | ||||||||
| UniProtKB:A0A8M2BC59 | InterPro | 1622 | ||||||||
| UniProtKB:A0AB32TSG3 | InterPro | 1515 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-9A20 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-63J13 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-105O6 | ZFIN Curated Data | |
| Encodes | EST | fc74b02 | ||
| Encodes | cDNA | MGC:64223 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_199717 (1) | 2608 nt | ||
| Genomic | GenBank:BX537162 (1) | 223816 nt | ||
| Polypeptide | UniProtKB:A0A8M9Q6C7 (1) | 1655 aa |
- Gabellini, C., Pucci, C., De Cesari, C., Martini, D., Di Lauro, C., Digregorio, M., Norton, W., Zippo, A., Sessa, A., Broccoli, V., Andreazzoli, M. (2022) CRISPR/Cas9-Induced Inactivation of the Autism-Risk Gene setd5 Leads to Social Impairments in Zebrafish. International Journal of Molecular Sciences. 24(1):
- Thyme, S.B., Pieper, L.M., Li, E.H., Pandey, S., Wang, Y., Morris, N.S., Sha, C., Choi, J.W., Herrera, K.J., Soucy, E.R., Zimmerman, S., Randlett, O., Greenwood, J., McCarroll, S.A., Schier, A.F. (2019) Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell. 177(2):478-491.e20
- Fellous, A., Earley, R.L., Silvestre, F. (2018) The Kdm/Kmt gene families in the self-fertilizing mangrove rivulus fish, Kryptolebias marmoratus, suggest involvement of histone methylation machinery in development and reproduction. Gene. 687:173-187
- Diotel, N., Viales, R.R., Armant, O., März, M., Ferg, M., Rastegar, S., Strähle, U. (2015) Comprehensive expression map of transcription regulators in the adult zebrafish telencephalon reveals distinct neurogenic niches. The Journal of comparative neurology. 523(8):1202-21
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Huang, H.T., Kathrein, K.L., Barton, A., Gitlin, Z., Huang, Y.H., Ward, T.P., Hofmann, O., Dibiase, A., Song, A., Tyekucheva, S., Hide, W., Zhou, Y., and Zon, L.I. (2013) A network of epigenetic regulators guides developmental haematopoiesis in vivo. Nature cell biology. 15(12):1516-1525
- Sun, X.J., Xu, P.F., Zhou, T., Hu, M., Fu, C.T., Zhang, Y., Jin, Y., Chen, Y., Chen, S.J., Huang, Q.H., Liu, T.X., and Chen, Z. (2008) Genome-Wide Survey and Developmental Expression Mapping of Zebrafish SET Domain-Containing Genes. PLoS One. 3(1):e1499
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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