Gene
frem2a
- ID
- ZDB-GENE-081119-3
- Name
- FRAS1 related extracellular matrix 2a
- Symbol
- frem2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Acts upstream of or within fin morphogenesis. Predicted to be located in membrane. Is expressed in fin; fin fold pectoral fin bud; median fin fold; pharyngeal arch; and trunk. Human ortholog(s) of this gene implicated in Fraser syndrome 2 and isolated cryptophthalmia. Orthologous to human FREM2 (FRAS1 related extracellular matrix 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa2557 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa5585 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14672 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16135 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17334 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21742 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21743 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24874 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41667 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| ta90 | Allele with one point mutation | Unknown | Missense | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-frem2a | Kim et al., 2025 | |
| CRISPR2-frem2a | Kim et al., 2025 | |
| MO1-frem2a | N/A | Carney et al., 2010 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Fraser syndrome 2 | Alliance | Fraser syndrome 2 | 617666 |
| isolated cryptophthalmia | Alliance | Cryptophthalmos, unilateral or bilateral, isolated | 123570 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003644 | Na-Ca exchanger/integrin-beta4 |
| Domain | IPR045658 | FRAS1-related extracellular matrix protein, N-terminal domain |
| Family | IPR051561 | FRAS1-related extracellular matrix |
| Homologous_superfamily | IPR038081 | CalX-like domain superfamily |
| Repeat | IPR039005 | CSPG repeat |
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Domain Details Per Protein
| Protein | Additional Resources | Length | CalX-like domain superfamily | CSPG repeat | FRAS1-related extracellular matrix | FRAS1-related extracellular matrix protein, N-terminal domain | Na-Ca exchanger/integrin-beta4 |
|---|---|---|---|---|---|---|---|
| UniProtKB:B6IDE6 | InterPro | 3113 | |||||
| UniProtKB:D7PS91 | InterPro | 3119 | |||||
| UniProtKB:A0AB32TZ31 | InterPro | 3110 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
frem2a-201
(1)
|
Ensembl | 9,873 nt | ||
| mRNA |
frem2a-202
(1)
|
Ensembl | 14,471 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 | CH211-210L19 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-3L17 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001137657 (1) | 9342 nt | ||
| Genomic | GenBank:BX530083 (1) | 155046 nt | ||
| Polypeptide | UniProtKB:D7PS91 (1) | 3119 aa |
- Kim, J.M., Cho, H.W., Shin, D.M., Kim, O.H., Kim, J., Lee, H., Lee, G.H., An, J.Y., Yang, M., Jo, H.S., Jang, J.H., Chang, Y.S., Park, H.Y., Park, M.H. (2025) Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing. Human genomics. 19:11
- Benard, E.L., Küçükaylak, I., Hatzold, J., Berendes, K.U.W., Carney, T.J., Beleggia, F., Hammerschmidt, M. (2023) wnt10a is required for zebrafish median fin fold maintenance and adult unpaired fin metamorphosis. Developmental Dynamics : an official publication of the American Association of Anatomists. 253(6):566-592
- Mahabaleshwar, H., Asharani, P.V., Loo, T.Y., Koh, S.Y., Pitman, M.R., Kwok, S., Ma, J., Hu, B., Lin, F., Li Lok, X., Pitson, S.M., Saunders, T.E., Carney, T.J. (2022) Slit-Robo signalling establishes a Sphingosine-1-phosphate gradient to polarise fin mesenchyme. EMBO reports. 23(8):e54464
- White, R.J., Mackay, E., Wilson, S.W., Busch-Nentwich, E.M. (2022) Allele-specific gene expression can underlie altered transcript abundance in zebrafish mutants. eLIFE. 11:
- Tian, J., Shao, J., Liu, C., Hou, H.Y., Chou, C.W., Shboul, M., Li, G.Q., El-Khateeb, M., Samarah, O.Q., Kou, Y., Chen, Y.H., Chen, M.J., Lyu, Z., Chen, W.L., Chen, Y.F., Sun, Y.H., Liu, Y.W. (2018) Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged-Notch signaling in fin and limb development. Cellular and molecular life sciences : CMLS. 76(1):163-178
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
- Nagendran, M., Arora, P., Gori, P., Mulay, A., Ray, S., Jacob, T., Sonawane, M. (2015) Canonical Wnt signalling regulates epithelial patterning by modulating levels of laminins in zebrafish appendages. Development (Cambridge, England). 142(2):320-30
- Richardson, R.J., Gebauer, J.M., Zhang, J.L., Kobbe, B., Keene, D.R., Karlsen, K.R., Richetti, S., Wohl, A.P., Sengle, G., Neiss, W.F., Paulsson, M., Hammerschmidt, M., and Wagener, R. (2014) AMACO Is a Component of the Basement Membrane-Associated Fraser Complex. The Journal of investigative dermatology. 134(5):1313-22
- Carney, T.J., Feitosa, N.M., Sonntag, C., Slanchev, K., Kluger, J., Kiyozumi, D., Gebauer, J.M., Coffin Talbot, J., Kimmel, C.B., Sekiguchi, K., Wagener, R., Schwarz, H., Ingham, P.W., and Hammerschmidt, M. (2010) Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel Fraser Syndrome disease genes. PLoS Genetics. 6(4):e1000907
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