Gene
ankhb
- ID
- ZDB-GENE-030131-2458
- Name
- ANKH inorganic pyrophosphate transport regulator b
- Symbol
- ankhb Nomenclature History
- Previous Names
-
- ankh
- wu:fc08d03
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable inorganic diphosphate transmembrane transporter activity and phosphate transmembrane transporter activity. Predicted to be involved in regulation of bone mineralization. Predicted to act upstream of or within phosphate ion transmembrane transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in autosomal dominant craniometaphyseal dysplasia and chondrocalcinosis. Orthologous to human ANKH (ANKH inorganic pyrophosphate transport regulator).
- 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
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant craniometaphyseal dysplasia | Alliance | Craniometaphyseal dysplasia | 123000 |
| chondrocalcinosis | Alliance | Chondrocalcinosis 2 | 118600 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR009887 | Progressive ankylosis |
Domain Details Per Protein
| Protein | Additional Resources | Length | Progressive ankylosis |
|---|---|---|---|
| UniProtKB:P58368 | InterPro | 501 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEYP-106C5 | ZFIN Curated Data | |
| Encodes | EST | fc08d03 | ||
| Encodes | cDNA | MGC:91789 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_194370 (1) | 2597 nt | ||
| Genomic | GenBank:CR391940 (1) | 140400 nt | ||
| Polypeptide | UniProtKB:P58368 (1) | 501 aa |
- Wathuliyadde, N., Willmore, K.E., Kelly, G.M. (2024) Evolution and Spatiotemporal Expression of ankha and ankhb in Zebrafish. Journal of developmental biology. 12(3):
- Van Gils, M., Willaert, A., De Vilder, E.Y.G., Coucke, P., Vanakker, O.M. (2018) Generation and Validation of a Complete Knockout Model of abcc6a In Zebrafish. The Journal of investigative dermatology. 138(11):2333-2342
- 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
- Jeradi, S., Hammerschmidt, M. (2016) Retinoic acid-induced premature osteoblast-to-preosteocyte transitioning has multiple effects on calvarial development. Development (Cambridge, England). 143(7):1205-16
- 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
- Huitema, L.F., Renn, J., Logister, I., Gray, J.K., Waltz, S.E., Flik, G., and Schulte-Merker, S. (2012) Macrophage-stimulating protein and calcium homeostasis in zebrafish. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 26(10):4092-4101
- Marandel, L., Labbe, C., Bobe, J., and Le Bail, P.Y. (2012) Evolutionary history of c-myc in teleosts and characterization of the duplicated c-myca genes in goldfish embryos. Molecular reproduction and development. 72(2):85-96
- Laue, K., Pogoda, H.M., Daniel, P.B., van Haeringen, A., Alanay, Y., von Ameln, S., Rachwalski, M., Morgan, T., Gray, M.J., Breuning, M.H., Sawyer, G.M., Sutherland-Smith, A.J., Nikkels, P.G., Kubisch, C., Bloch, W., Wollnik, B, Hammerschmidt, M., and Robertson, S.P. (2011) Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid. American journal of human genetics. 89(5):595-606
- 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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