Gene
zgc:153521
- ID
- ZDB-GENE-061103-379
- Name
- zgc:153521
- Symbol
- zgc:153521 Nomenclature History
- Previous Names
-
- C9H2orf69 (1)
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 53. Orthologous to human C2orf69 (chromosome 2 open reading frame 69).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Thyme et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-zgc:153521 | (2) | |
CRISPR2-zgc:153521 | Thyme et al., 2019 | |
CRISPR3-zgc:153521 | Thyme et al., 2019 | |
CRISPR4-zgc:153521 | Thyme et al., 2019 | |
CRISPR5-zgc:153521 | Wong et al., 2021 |
1 - 5 of 5
Show
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
combined oxidative phosphorylation deficiency 53 | Alliance | Combined oxidative phosphorylation deficiency 53 | 619423 |
1 - 1 of 1
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR018881 | Mitochondrial protein C2orf69 |
1 - 1 of 1
Domain Details Per Protein
Protein | Additional Resources | Length | Mitochondrial protein C2orf69 |
---|---|---|---|
UniProtKB:A0JMH2 | InterPro | 341 |
1 - 1 of 1
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
zgc:153521-201
(1)
|
Ensembl | 2,264 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-191G15 | ZFIN Curated Data | |
Encodes | cDNA | MGC:153521 | ZFIN Curated Data |
1 - 2 of 2
Show
Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001077728 (1) | 2299 nt | ||
Genomic | GenBank:BX247888 (1) | 223425 nt | ||
Polypeptide | UniProtKB:A0JMH2 (1) | 341 aa |
- Wong, H.H., Seet, S.H., Maier, M., Gurel, A., Traspas, R.M., Lee, C., Zhang, S., Talim, B., Loh, A.Y.T., Chia, C.Y., Teoh, T.S., Sng, D., Rensvold, J., Unal, S., Shishkova, E., Cepni, E., Nathan, F.M., Sirota, F.L., Liang, C., Yarali, N., Simsek-Kiper, P.O., Mitani, T., Ceylaner, S., Arman-Bilir, O., Mbarek, H., Gumruk, F., Efthymiou, S., Uğurlu Çi Men, D., Georgiadou, D., Sotiropoulou, K., Houlden, H., Paul, F., Pehlivan, D., Lainé, C., Chai, G., Ali, N.A., Choo, S.C., Keng, S.S., Boisson, B., Yılmaz, E., Xue, S., Coon, J.J., Ly, T.T.N., Gilani, N., Hasbini, D., Kayserili, H., Zaki, M., Isfort, R.J., Ordonez, N., Tripolszki, K., Bauer, P., Rezaei, N., Seyedpour, S., Khotaei, G.T., Bascom, C.C., Maroofian, R., Chaabouni, M., Alsubhi, A., Eyaid, W., Işıkay, S., Gleeson, J.G., Lupski, J.R., Casanova, J.L., Pagliarini, D.J., Akarsu, N.A., Maurer-Stroh, S., Cetinkaya, A., Bertoli-Avella, A., Mathuru, A.S., Ho, L., Bard, F.A., Reversade, B. (2021) Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy. American journal of human genetics. 108(7):1301-1317
- Thyme, S.B., Pieper, L.M., Li, E.H., Pandey, S., Wang, Y., Morris, N.S., Sha, C., Choi, J.W., Herrera, K.J., Soucy, E.R., Zimmerman, S., Randlett, O., Greenwood, J., McCarroll, S.A., Schier, A.F. (2019) Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell. 177(2):478-491.e20
- 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
1 - 3 of 3
Show