Gene
kmt2ca
- ID
- ZDB-GENE-080520-3
- Name
- lysine (K)-specific methyltransferase 2Ca
- Symbol
- kmt2ca Nomenclature History
- Previous Names
-
- mll3a
- si:ch211-244o18.1
- si:ch211-244o18.2
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable histone H3K4 methyltransferase activity and transcription coactivator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within chromatin organization and methylation. Predicted to be located in nucleus. Predicted to be part of MLL3/4 complex. Is expressed in telencephalon. Human ortholog(s) of this gene implicated in Kleefstra syndrome 2; carcinoma (multiple); and stomach cancer. Orthologous to human KMT2C (lysine methyltransferase 2C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-kmt2ca | N/A | Huang et al., 2013 |
| MO2-kmt2ca | N/A | Gorski et al., 2015 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Kleefstra syndrome 2 | Alliance | Kleefstra syndrome 2 | 617768 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Extended PHD (ePHD) domain | FY-rich, C-terminal | FY-rich, N-terminal | High mobility group box domain | High mobility group box domain superfamily | KMT2C, ePHD2 | KMT2C, PHD2 domain | KMT2C, PHD4 domain | Post-SET domain | SET domain | SET domain superfamily | Zinc finger, FYVE/PHD-type | Zinc finger, PHD-finger | Zinc finger, PHD-type | Zinc finger, RING/FYVE/PHD-type | Zinc finger, RING-type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PG96 | InterPro | 4909 | ||||||||||||||||
| UniProtKB:A0A8M2B9Q2 | InterPro | 4954 | ||||||||||||||||
| UniProtKB:A0A8M6YY65 | InterPro | 4957 | ||||||||||||||||
| UniProtKB:A0A8M6YWB8 | InterPro | 4957 | ||||||||||||||||
| UniProtKB:A0A8M2B9E8 | InterPro | 4942 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kmt2ca-201
(1)
|
Ensembl | 610 nt | ||
| mRNA |
kmt2ca-202
(1)
|
Ensembl | 17,032 nt | ||
| mRNA |
kmt2ca-203
(1)
|
Ensembl | 11,078 nt | ||
| mRNA |
kmt2ca-204
(1)
|
Ensembl | 11,180 nt | ||
| mRNA |
kmt2ca-205
(1)
|
Ensembl | 1,239 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-232L14 | ZFIN Curated Data | |
| Contained in | BAC | CH211-244O18 | ||
| Contained in | BAC | DKEY-148G10 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_005162545 (1) | 16829 nt | ||
| Genomic | GenBank:BX294167 (2) | 191302 nt | ||
| Polypeptide | UniProtKB:A0A8M2B9E0 (1) | 4958 aa |
- 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
- Zhang, L., Yang, Y., Li, B., Scott, I.C., Lou, X. (2018) The DEAD box RNA helicase Ddx39ab is essential for myocyte and lens development in zebrafish. Development (Cambridge, England). 145(8)
- 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
- Gorski, M., Tin, A., Garnaas, M., McMahon, G.M., Chu, A.Y., Tayo, B.O., Pattaro, C., Teumer, A., Chasman, D.I., Chalmers, J., Hamet, P., Tremblay, J., Woodward, M., Aspelund, T., Eiriksdottir, G., Gudnason, V., Harris, T.B., Launer, L.J., Smith, A.V., Mitchell, B.D., O'Connell, J.R., Shuldiner, A.R., Coresh, J., Li, M., Freudenberger, P., Hofer, E., Schmidt, H., Schmidt, R., Holliday, E.G., Mitchell, P., Wang, J.J., de Boer, I.H., Li, G., Siscovick, D.S., Kutalik, Z., Corre, T., Vollenweider, P., Waeber, G., Gupta, J., Kanetsky, P.A., Hwang, S.J., Olden, M., Yang, Q., de Andrade, M., Atkinson, E.J., Kardia, S.L., Turner, S.T., Stafford, J.M., Ding, J., Liu, Y., Barlassina, C., Cusi, D., Salvi, E., Staessen, J.A., Ridker, P.M., Grallert, H., Meisinger, C., Müller-Nurasyid, M., Krämer, B.K., Kramer, H., Rosas, S.E., Nolte, I.M., Penninx, B.W., Snieder, H., Fabiola Del Greco, M., Franke, A., Nöthlings, U., Lieb, W., Bakker, S.J., Gansevoort, R.T., van der Harst, P., Dehghan, A., Franco, O.H., Hofman, A., Rivadeneira, F., Sedaghat, S., Uitterlinden, A.G., Coassin, S., Haun, M., Kollerits, B., Kronenberg, F., Paulweber, B., Aumann, N., Endlich, K., Pietzner, M., Völker, U., Rettig, R., Chouraki, V., Helmer, C., Lambert, J.C., Metzger, M., Stengel, B., Lehtimäki, T., Lyytikäinen, L.P., Raitakari, O., Johnson, A., Parsa, A., Bochud, M., Heid, I.M., Goessling, W., Köttgen, A., Kao, W.H., Fox, C.S., Böger, C.A. (2015) Genome-wide association study of kidney function decline in individuals of European descent. Kidney International. 87(5):1017-29
- 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
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