Gene
abcc9
- ID
- ZDB-GENE-050517-23
- Name
- ATP-binding cassette, sub-family C (CFTR/MRP), member 9
- Symbol
- abcc9 Nomenclature History
- Previous Names
-
- si:dkey-183c2.3
- SUR2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Enables ATP-activated inward rectifier potassium channel activity. Acts upstream of or within regulation of heart contraction and regulation of potassium:proton exchanging ATPase activity. Predicted to be part of protein-containing complex. Predicted to be active in plasma membrane. Is expressed in heart. Used to study hypertrichotic osteochondrodysplasia Cantu type. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; dilated cardiomyopathy 1O; familial atrial fibrillation; hypertrichotic osteochondrodysplasia Cantu type; and intellectual disability and myopathy syndrome. Orthologous to human ABCC9 (ATP binding cassette subfamily C member 9).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 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 |
|---|---|---|---|---|---|
| hu11838 | Allele with multiple variants | Unknown | Unknown | CRISPR | |
| hu11859 | Allele with multiple variants | Unknown | Unknown | CRISPR | |
| sa8414 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa8868 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17129 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18175 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa26260 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38431 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-abcc9 | (5) | |
| CRISPR2-abcc9 | (2) | |
| CRISPR3-abcc9 | LaCoursiere et al., 2024 | |
| CRISPR4-abcc9 | LaCoursiere et al., 2024 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| dilated cardiomyopathy 1O | Alliance | Cardiomyopathy, dilated, 1O | 608569 |
| familial atrial fibrillation | Alliance | ?Atrial fibrillation, familial, 12 | 614050 |
| hypertrichotic osteochondrodysplasia Cantu type | Alliance | Hypertrichotic osteochondrodysplasia (Cantu syndrome) | 239850 |
| intellectual disability and myopathy syndrome | Alliance | Intellectual disability and myopathy syndrome | 619719 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| hypertrichotic osteochondrodysplasia Cantu type | abcc9hu11838/+ | standard conditions | (2) |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017871 | ABC transporter-like, conserved site |
| Domain | IPR003439 | ABC transporter-like, ATP-binding domain |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR011527 | ABC transporter type 1, transmembrane domain |
| Domain | IPR047080 | ATP-binding cassette sub-family C member 9, ATP-binding cassette domain 1 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | AAA+ ATPase domain | ABC transporter-like, ATP-binding domain | ABC transporter-like, conserved site | ABC transporter type 1, transmembrane domain | ABC transporter type 1, transmembrane domain superfamily | ATP-binding cassette sub-family C member 8/9 | ATP-binding cassette sub-family C member 9, ATP-binding cassette domain 1 | ATP-binding cassette transporter C-like | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M6YY04 | InterPro | 1570 | |||||||||
| UniProtKB:A0A8M2BBV1 | InterPro | 1571 | |||||||||
| UniProtKB:Q5RH87 | InterPro | 1558 | |||||||||
| UniProtKB:A0A8M2BC16 | InterPro | 1583 | |||||||||
| UniProtKB:A0A0R4IAS5 | InterPro | 1557 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| TgBAC(abcc9:GAL4FF) |
|
| 1 | (6) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-183C2 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:195228 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001030154 (1) | 4737 nt | ||
| Genomic | GenBank:BX571719 (2) | 111614 nt | ||
| Polypeptide | UniProtKB:A0A8M2BBT3 (1) | 1583 aa |
- Kleinendorst, L., Siegelaar, S.E., Roessler, H.I., Meiwand, L., van den Boogaard, M., de Bruin-Bon, R.H.A.C.M., van Duinen, K.F., Planken, R.N., Jaspars, E.H., Kemperman, P.M.J.H., Bouma, B.J., Nichols, C.G., Bekkenk, M.W., van Haaften, G.W., van Haelst, M.M. (2025) Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome. Scientific Reports. 15:1770417704
- Wang, C., Zhong, Y., Zhang, Y., Jiang, Y., Wang, C., An, L., Luo, C., Yang, L., He, Z., Yang, Y., Luo, M., Mao, M., Wang, W., Liu, Q., Shi, Y., Ping, Y.F. (2025) Cd248a regulates pericyte development and viability in zebrafish. Communications biology. 8:451451
- Efthymiou, S., Scala, M., Nagaraj, V., Ochenkowska, K., Komdeur, F.L., Liang, R.A., Abdel-Hamid, M.S., Sultan, T., Barøy, T., Van Ghelue, M., Vona, B., Maroofian, R., Zafar, F., Alkuraya, F.S., Zaki, M.S., Severino, M., Duru, K.C., Tryon, R.C., Brauteset, L.V., Ansari, M., Hamilton, M., van Haelst, M.M., van Haaften, G., Zara, F., Houlden, H., Samarut, É., Nichols, C.G., Smeland, M.F., McClenaghan, C. (2024) Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome. Brain : a journal of neurology. 147(5):1822-1836
- 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
- Singareddy, S.S., Roessler, H.I., McClenaghan, C., Ikle, J., Tryon, R., van Haaften, G., Nichols, C.G. (2021) ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle. The Journal of physiology. 600(2):299-312
- Lawson, N.D., Li, R., Shin, M., Grosse, A., Yukselen, O., Stone, O.A., Kucukural, A., Zhu, L. (2020) An improved zebrafish transcriptome annotation for sensitive and comprehensive detection of cell type-specific genes. eLIFE. 9:
- Ando, K., Wang, W., Peng, D., Chiba, A., Lagendijk, A., Barske, L., Crump, J.G., Stainier, D.Y.R., Lendahl, U., Koltowska, K., Hogan, B.M., Fukuhara, S., Mochizuki, N., Betsholtz, C. (2019) Peri-arterial specification of vascular mural cells from naïve mesenchyme requires Notch signaling. Development (Cambridge, England). 146(2):
- Smeland, M.F., McClenaghan, C., Roessler, H.I., Savelberg, S., Hansen, G.Å.M., Hjellnes, H., Arntzen, K.A., Müller, K.I., Dybesland, A.R., Harter, T., Sala-Rabanal, M., Emfinger, C.H., Huang, Y., Singareddy, S.S., Gunn, J., Wozniak, D.F., Kovacs, A., Massink, M., Tessadori, F., Kamel, S.M., Bakkers, J., Remedi, M.S., Van Ghelue, M., Nichols, C.G., van Haaften, G. (2019) ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9. Nature communications. 10:4457
- Tessadori, F., Roessler, H.I., Savelberg, S.M.C., Chocron, S., Kamel, S.M., Duran, K.J., van Haelst, M.M., van Haaften, G., Bakkers, J. (2018) Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders. Disease models & mechanisms. 11(10):
- Vanlandewijck, M., He, L., Mäe, M.A., Andrae, J., Ando, K., Del Gaudio, F., Nahar, K., Lebouvier, T., Laviña, B., Gouveia, L., Sun, Y., Raschperger, E., Räsänen, M., Zarb, Y., Mochizuki, N., Keller, A., Lendahl, U., Betsholtz, C. (2018) A molecular atlas of cell types and zonation in the brain vasculature. Nature. 554:475480475-480
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