Gene
kmt2d
- ID
- ZDB-GENE-060223-2
- Name
- lysine (K)-specific methyltransferase 2D
- Symbol
- kmt2d Nomenclature History
- Previous Names
-
- mll2
- im:7157663
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable histone H3K4 methyltransferase activity and transcription coactivator activity. Acts upstream of or within several processes, including chordate embryonic development; convergent extension; and determination of heart left/right asymmetry. Predicted to be located in nucleoplasm. Predicted to be part of MLL3/4 complex. Is expressed in head. Used to study Kabuki syndrome. Human ortholog(s) of this gene implicated in Kabuki syndrome; carcinoma (multiple); and intracranial aneurysm. Orthologous to human KMT2D (lysine methyltransferase 2D).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7157663 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 31 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la014386Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la022616Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la022617Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| rdu1001 | Allele with one deletion | Exon 6 | Frameshift, Premature Stop | CRISPR | |
| sa5980 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa10227 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14115 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa16818 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24354 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24355 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-kmt2d | (2) | |
| CRISPR2-kmt2d | (2) | |
| CRISPR3-kmt2d | (2) | |
| CRISPR4-kmt2d | (2) | |
| CRISPR5-kmt2d | (2) | |
| CRISPR6-kmt2d | (2) | |
| CRISPR7-kmt2d | (2) | |
| CRISPR8-kmt2d | (2) | |
| CRISPR9-kmt2d | (2) | |
| CRISPR10-kmt2d | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Kabuki syndrome | Alliance | Kabuki syndrome 1 | 147920 |
| Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | 620186 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR003888 | FY-rich, N-terminal |
| Conserved_site | IPR003889 | FY-rich, C-terminal |
| Domain | IPR001214 | SET domain |
| Domain | IPR001841 | Zinc finger, RING-type |
| Domain | IPR001965 | Zinc finger, PHD-type |
| Domain | IPR003616 | Post-SET domain |
| Domain | IPR009071 | High mobility group box domain |
| Domain | IPR019787 | Zinc finger, PHD-finger |
| Domain | IPR034732 | Extended PHD (ePHD) domain |
| Domain | IPR046999 | KMT2D, PHD5 domain |
| Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| Homologous_superfamily | IPR036910 | High mobility group box domain superfamily |
| Homologous_superfamily | IPR046341 | SET domain superfamily |
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 | KMT2D, PHD5 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:A0A8M6YVY3 | InterPro | 4966 | ||||||||||||||
| UniProtKB:A0A8M6YXU3 | InterPro | 4949 | ||||||||||||||
| UniProtKB:A0A8M3B696 | InterPro | 4967 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-367E20 | ||
| Contained in | BAC | CH211-169D8 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-166N8 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7157663 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009296953 (1) | 18009 nt | ||
| Genomic | GenBank:CR352210 (1) | 180924 nt | ||
| Polypeptide | UniProtKB:A0A8M3B696 (1) | 4967 aa |
- Shangguan, H., Huang, X., Lin, J., Chen, R. (2024) Knockdown of Kmt2d leads to growth impairment by activating the Akt/β-catenin signaling pathway. G3 (Bethesda). 14(3):
- Zhang, Y., Liu, Y., Qin, W., Zheng, S., Xiao, J., Xia, X., Yuan, X., Zeng, J., Shi, Y., Zhang, Y., Ma, H., Varshney, G.K., Fei, J.F., Liu, Y. (2024) Cytosine base editors with increased PAM and deaminase motif flexibility for gene editing in zebrafish. Nature communications. 15:95269526
- Hsu, P.J., Wang, H.D., Tseng, Y.C., Pan, S.W., Sampurna, B.P., Jong, Y.J., Yuh, C.H. (2021) L-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish. Journal of Biomedical Science. 28:8
- Liang, S., Shi, X., Yu, C., Shao, X., Zhou, H., Li, X., Chang, C., Lai, K.S., Ma, J., Zhang, R. (2020) Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing. Biochimica et biophysica acta. Molecular basis of disease. 1866(12):165906
- Ma, Z., Zhu, P., Shi, H., Guo, L., Zhang, Q., Chen, Y., Chen, S., Zhang, Z., Peng, J., Chen, J. (2019) PTC-bearing mRNA elicits a genetic compensation response via Upf3a and COMPASS components. Nature. 568(7751):259-263
- Mooney, M.R., Davis, E.E., Katsanis, N. (2019) Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation. Frontiers in genetics. 10:949
- Serrano, M.L.A., Demarest, B.L., Tone-Pah-Hote, T., Tristani-Firouzi, M., Yost, H.J. (2019) Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome. PLoS Biology. 17:e3000087
- 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
- Tsai, I.C., McKnight, K., McKinstry, S.U., Maynard, A.T., Tan, P.L., Golzio, C., White, C.T., Price, D.J., Davis, E.E., Amrine-Madsen, H., Katsanis, N. (2018) Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome. Scientific Reports. 8:10779
- Bögershausen, N., Tsai, I.C., Pohl, E., Kiper, P.Ö., Beleggia, F., Percin, E.F., Keupp, K., Matchan, A., Milz, E., Alanay, Y., Kayserili, H., Liu, Y., Banka, S., Kranz, A., Zenker, M., Wieczorek, D., Elcioglu, N., Prontera, P., Lyonnet, S., Meitinger, T., Stewart, A.F., Donnai, D., Strom, T.M., Boduroglu, K., Yigit, G., Li, Y., Katsanis, N., Wollnik, B. (2015) RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. The Journal of Clinical Investigation. 125(9):3585-99
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