Gene
med12
- ID
- ZDB-GENE-060125-1
- Name
- mediator complex subunit 12
- Symbol
- med12 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Enables DNA-binding transcription factor activity and promoter-enhancer loop anchoring activity. Acts upstream of or within several processes, including central nervous system development; embryonic morphogenesis; and iridophore differentiation. Predicted to be located in nucleus. Predicted to be part of mediator complex. Is expressed in several structures, including brain; head; immature eye; intermediate cell mass of mesoderm; and liver. Human ortholog(s) of this gene implicated in FG syndrome; leiomyosarcoma; major depressive disorder; phobic disorder; and syndromic X-linked intellectual disorder Lujan-Fryns-type. Orthologous to several human genes including MED12 (mediator complex subunit 12).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 41 figures from 15 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
gl10 | Allele with one point mutation | Unknown | Missense | ENU | |
la012521Tg | Transgenic insertion | Unknown | Unknown | DNA | |
m807 | Allele with one deletion | Unknown | Frameshift | ENU | |
s432 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
s435 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa6342 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa18291 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa38995 | Allele with one point mutation | Unknown | Unknown | ENU | |
t25870 | Allele with one point mutation | Unknown | Unknown | ENU | |
ta76b | unknown | Unknown | Unknown | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-med12 | LaCoursiere et al., 2024 | |
CRISPR2-med12 | LaCoursiere et al., 2024 | |
CRISPR3-med12 | LaCoursiere et al., 2024 | |
CRISPR4-med12 | LaCoursiere et al., 2024 | |
MO1-med12 | N/A | (2) |
MO2-med12 | N/A | (2) |
MO3-med12 | N/A | Wang et al., 2006 |
MO4-med12 | N/A | Lin et al., 2007 |
MO5-med12 | N/A | (2) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
FG syndrome | Alliance | Opitz-Kaveggia syndrome | 305450 |
Ohdo syndrome | Alliance | Ohdo syndrome, X-linked | 300895 |
syndromic X-linked intellectual disorder Lujan-Fryns-type | Alliance | Lujan-Fryns syndrome | 309520 |
Hardikar syndrome | 301068 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Mediator complex subunit 12 | Mediator complex, subunit Med12 | Mediator complex, subunit Med12, catenin-binding | Mediator complex, subunit Med12, LCEWAV-domain |
---|---|---|---|---|---|---|
UniProtKB:A0A0R4IBL3 | InterPro | 2175 | ||||
UniProtKB:Q2QCI8 | InterPro | 2173 | ||||
UniProtKB:A0A8M3AHU7 | InterPro | 2178 | ||||
UniProtKB:A0A8M3B095 | InterPro | 2179 |
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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 | CH211-66G21 | ZFIN Curated Data | |
Contained in | BAC | CH211-119P14 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001039461 (1) | 6938 nt | ||
Genomic | RefSeq:NW_018394907 (1) | 273812 nt | ||
Polypeptide | UniProtKB:A0A8M3B095 (1) | 2179 aa |
- LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. (2024) Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27:110172110172
- Segert, J., Schneider, I., Berger, I.M., Rottbauer, W., Just, S. (2018) Mediator complex subunit Med12 regulates cardiac jelly development and AV valve formation in zebrafish. Progress in Biophysics and Molecular Biology. 138:20-31
- Spikol, E.D., Glasgow, E. (2018) Separate roles for Med12 and Wnt signaling in regulation of oxytocin expression. Biology Open. 7(3)
- Muto, A., Ikeda, S., Lopez-Burks, M.E., Kikuchi, Y., Calof, A.L., Lander, A.D., Schilling, T.F. (2014) Nipbl and Mediator Cooperatively Regulate Gene Expression to Control Limb Development. PLoS Genetics. 10:e1004671
- Wu, S.Y., de Borsetti, N.H., Bain, E.J., Bulow, C.R., and Gamse, J.T. (2014) Mediator subunit 12 coordinates intrinsic and extrinsic control of epithalamic development. Developmental Biology. 385(1):13-22
- Coffey, C.M., Solleveld, P.A., Fang, J., Roberts, A.K., Hong, S.K., Dawid, I.B., Laverriere, C.E., and Glasgow, E. (2013) Novel oxytocin gene expression in the hindbrain is induced by alcohol exposure: transgenic zebrafish enable visualization of sensitive neurons. PLoS One. 8(1):e53991
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Hong, S.K., and Dawid, I.B. (2011) The transcriptional mediator component med12 is required for hindbrain boundary formation. PLoS One. 6(4):e19076
- Keightley, M.C., Layton, J.E., Hayman, J.W., Heath, J.K., and Lieschke, G.J. (2011) Mediator subunit 12 is required for neutrophil development in zebrafish. PLoS One. 6(8):e23845
- Lowery, L.A., De Rienzo, G., Gutzman, J.H., and Sive, H. (2009) Characterization and Classification of Zebrafish Brain Morphology Mutants. The Anatomical record. 292(1):94-106
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