Gene
col4a6
- ID
- ZDB-GENE-101001-2
- Name
- collagen, type IV, alpha 6
- Symbol
- col4a6 Nomenclature History
- Previous Names
-
- im:7147757
- shiomaneki (1)
- sio
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within axon extension involved in axon guidance and basement membrane organization. Predicted to be located in basement membrane and extracellular region. Predicted to be part of collagen type IV trimer. Predicted to be active in extracellular matrix. Is expressed in several structures, including digestive system; head; integument; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in X-linked deafness 6. Orthologous to human COL4A6 (collagen type IV alpha 6 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7147757 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la026127Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| rk18 | Allele with one point mutation | Donor Splice Site of Intron 42 | Unknown | not specified | |
| sa7085 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa34180 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa41014 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa41015 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| X-linked deafness 6 | Alliance | ?Deafness, X-linked 6 | 300914 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen IV, non-collagenous | Collagen IV, non-collagenous domain superfamily | Collagen superfamily | Collagen triple helix repeat | C-type lectin fold |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QD06 | InterPro | 1688 | |||||
| UniProtKB:A0A8M3B4D5 | InterPro | 1686 | |||||
| UniProtKB:A0A8M6Z091 | InterPro | 1714 | |||||
| UniProtKB:A0A8M6Z7E0 | InterPro | 1717 | |||||
| UniProtKB:A0A8M6Z1T7 | InterPro | 1700 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col4a6-201
(1)
|
Ensembl | 5,145 nt | ||
| mRNA |
col4a6-202
(1)
|
Ensembl | 8,255 nt | ||
| mRNA |
col4a6-203
(1)
|
Ensembl | 5,001 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 |
|---|---|---|---|---|
| Encodes | EST | IMAGE:7147757 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_017357093 (1) | 8371 nt | ||
| Genomic | GenBank:CR318600 (1) | 257374 nt | ||
| Polypeptide | UniProtKB:A0A8M6Z7E0 (1) | 1717 aa |
- LeBleu, V.S., Dai, J., Tsutakawa, S., MacDonald, B.A., Alge, J.L., Sund, M., Xie, L., Sugimoto, H., Tainer, J., Zon, L.I., Kalluri, R. (2023) Identification of unique α4 chain structure and conserved anti-angiogenic activity of α3NC1 type IV collagen in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 252(7):1046-1060
- Naylor, R.W., Lemarie, E., Jackson-Crawford, A., Davenport, J.B., Mironov, A., Lowe, M., Lennon, R. (2022) A novel nanoluciferase transgenic reporter measures proteinuria in zebrafish. Kidney International. 102(4):815-827
- Tsata, V., Möllmert, S., Schweitzer, C., Kolb, J., Möckel, C., Böhm, B., Rosso, G., Lange, C., Lesche, M., Hammer, J., Kesavan, G., Beis, D., Guck, J., Brand, M., Wehner, D. (2020) A switch in pdgfrb+ cell-derived ECM composition prevents inhibitory scarring and promotes axon regeneration in the zebrafish spinal cord. Developmental Cell. 56(4):509-524.e9
- Nicholas, C., Weaver, M., Piedade, W.P., Vocking, O., Famulski, J.K. (2019) Temporal characterization of optic fissure basement membrane composition suggests nidogen may be an initial target of remodeling. Developmental Biology. 452(1):43-54
- Xue, Y., Liu, D., Cui, G., Ding, Y., Ai, D., Gao, S., Zhang, Y., Suo, S., Wang, X., Lv, P., Zhou, C., Li, Y., Chen, X., Peng, G., Jing, N., Han, J.J., Liu, F. (2019) A 3D Atlas of Hematopoietic Stem and Progenitor Cell Expansion by Multi-dimensional RNA-Seq Analysis. Cell Reports. 27:1567-1578.e5
- Bretaud, S., Nauroy, P., Malbouyres, M., Ruggiero, F. (2018) FISHING FOR COLLAGEN FUNCTION: ABOUT DEVELOPMENT, REGENERATION AND DISEASE. Seminars in cell & developmental biology. 89:100-108
- 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
- Takeuchi, M., Yamaguchi, S., Yonemura, S., Kakiguchi, K., Sato, Y., Higashiyama, T., Shimizu, T., Hibi, M. (2015) Type IV Collagen Controls the Axogenesis of Cerebellar Granule Cells by Regulating Basement Membrane Integrity in Zebrafish. PLoS Genetics. 11:e1005587
- Kessels, M.Y., Huitema, L.F., Boeren, S., Kranenbarg, S., Schulte-Merker, S., van Leeuwen, J.L., de Vries, S.C. (2014) Proteomics analysis of the zebrafish skeletal extracellular matrix. PLoS One. 9:e90568
- Rost, S., Bach, E., Neuner, C., Nanda, I., Dysek, S., Bittner, R.E., Keller, A., Bartsch, O., Mlynski, R., Haaf, T., Müller, C.R., and Kunstmann, E. (2014) Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. European journal of human genetics : EJHG. 22(2):208-15
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