SFRS14
| SUGP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | SUGP2, SFRS14, SURP and G-patch domain containing 2, SRFS14 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607993; MGI: 2678085; HomoloGene: 8923; GeneCards: SUGP2; OMA:SUGP2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Putative splicing factor, arginine/serine-rich 14 is a protein that in humans is encoded by the SFRS14 gene.[5][6] Mutation of this gene may cause non-HFE-related hereditary haemochromatosis.[7][8]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000064607 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036054 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Sampson ND, Hewitt JE (Feb 2003). "SF4 and SFRS14, two related putative splicing factors on human chromosome 19p13.11". Gene. 305 (1): 91–100. doi:10.1016/S0378-1119(02)01230-1. PMID 12594045.
- ↑ "Entrez Gene: SFRS14 splicing factor, arginine/serine-rich 14".
- ↑ Li Y, Xu A, Liu S, Zhang W, Zhou D, OuYang Q, Zi H, Zhang B, Zhang N, Geng W, Zhou Y, Duan W, Wang X, Zhao X, Ou X, Fan C, Jia J, Huang J (September 2024). "SUGP2 p.(Arg639Gln) variant is involved in the pathogenesis of hemochromatosis via the CIRBP/BMPER signaling pathway". American Journal of Hematology. 99 (9): 1691–1703. doi:10.1002/ajh.27377. PMID 38800953.
- ↑ Qiu H, Yuan M, Guo Z, Liang J, Li Y, Gao Y, He S, Ma X (2 December 2024). "Hereditary Hemochromatosis Caused by SUGP2 and DENND3 Mutation in China: A Case Report". Clinical Case Reports. 12 (12) e9592. doi:10.1002/ccr3.9592. PMC 11612258. PMID 39629038.
Further reading
[edit]- Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
- Nousiainen M, Silljé HH, Sauer G, et al. (2006). "Phosphoproteome analysis of the human mitotic spindle". Proc. Natl. Acad. Sci. U.S.A. 103 (14): 5391–6. Bibcode:2006PNAS..103.5391N. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. Bibcode:2004Natur.428..529G. doi:10.1038/nature02399. PMID 15057824.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Nagase T, Ishikawa K, Nakajima D, et al. (1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
External links
[edit]- SUGP2 human gene location in the UCSC Genome Browser.
- SUGP2 human gene details in the UCSC Genome Browser.
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