Gene
eif2b4
- ID
- ZDB-GENE-030131-955
- Name
- eukaryotic translation initiation factor 2B, subunit 4 delta
- Symbol
- eif2b4 Nomenclature History
- Previous Names
-
- si:ch211-101l18.4
- wu:fb54a09 (1)
- zgc:110790
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable translation initiation factor activity. Predicted to be involved in cytoplasmic translational initiation. Predicted to act upstream of or within translational initiation. Predicted to be located in cytosol. Predicted to be part of eukaryotic translation initiation factor 2B complex. Is expressed in brain and eye. Human ortholog(s) of this gene implicated in leukoencephalopathy with vanishing white matter 4. Orthologous to human EIF2B4 (eukaryotic translation initiation factor 2B subunit delta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110790 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa17367 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| leukoencephalopathy with vanishing white matter 4 | Alliance | Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure | 620314 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Initiation factor 2B-like, C-terminal | Initiation factor 2B-related | NagB/RpiA transferase-like |
|---|---|---|---|---|---|
| UniProtKB:A0A8M2B7A3 | InterPro | 541 | |||
| UniProtKB:Q5RIE1 | InterPro | 540 | |||
| UniProtKB:A0A8M2B7A1 | InterPro | 555 | |||
| UniProtKB:A0A286Y8J6 | InterPro | 554 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
eif2b4-201
(1)
|
Ensembl | 2,120 nt | ||
| mRNA |
eif2b4-203
(1)
|
Ensembl | 578 nt | ||
| mRNA |
eif2b4-205
(1)
|
Ensembl | 6,263 nt | ||
| ncRNA |
eif2b4-002
(1)
|
Ensembl | 794 nt | ||
| ncRNA |
eif2b4-004
(1)
|
Ensembl | 639 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 | CH211-101L18 | ||
| Contains | SNP | rs3729021 | ZFIN Curated Data | |
| Contains | SNP | rs3729022 | ZFIN Curated Data | |
| Encodes | EST | fb54a09 | ||
| Encodes | EST | wz1304 | ||
| Encodes | cDNA | MGC:110790 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001014361 (1) | 2146 nt | ||
| Genomic | GenBank:BX276101 (1) | 167149 nt | ||
| Polypeptide | UniProtKB:A0A8M2B7A1 (1) | 555 aa |
- Keefe, M.D., Soderholm, H.E., Shih, H.Y., Stevenson, T.J., Glaittli, K.A., Bowles, D.M., Scholl, E., Colby, S., Merchant, S., Hsu, E.W., Bonkowsky, J.L. (2020) Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response. eLIFE. 9:
- 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
- Nachtigall, P., Dias, M., Pinhal, D. (2014) Evolution and genomic organization of muscle microRNAs in fish genomes. BMC Evolutionary Biology. 14:196
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
- 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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