From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Transmembrane protein 216 is a
protein in humans that is encoded by the TMEM216
gene.
[5]
Clinical significance
Mutations in this gene may be associated with
Meckel syndrome or
Joubert syndrome.
[6]
See also
References
Further reading
- Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68.
doi:
10.1016/j.cell.2005.08.029.
hdl:
11858/00-001M-0000-0010-8592-0.
PMID
16169070.
S2CID
8235923.
- Valente EM, Salpietro DC, Brancati F, et al. (2003).
"Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation". Am. J. Hum. Genet. 73 (3): 663–70.
doi:
10.1086/378241.
PMC
1180692.
PMID
12908130.
- Edvardson S, Shaag A, Zenvirt S, et al. (2010).
"Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation". Am. J. Hum. Genet. 86 (1): 93–7.
doi:
10.1016/j.ajhg.2009.12.007.
PMC
2801745.
PMID
20036350.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002).
"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.
- Roume J, Genin E, Cormier-Daire V, et al. (1998).
"A gene for Meckel syndrome maps to chromosome 11q13". Am. J. Hum. Genet. 63 (4): 1095–101.
doi:
10.1086/302062.
PMC
1377494.
PMID
9758620.
- Keeler LC, Marsh SE, Leeflang EP, et al. (2003).
"Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3". Am. J. Hum. Genet. 73 (3): 656–62.
doi:
10.1086/378206.
PMC
1180691.
PMID
12917796.
- Valente EM, Logan CV, Mougou-Zerelli S, et al. (2010).
"Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes". Nat. Genet. 42 (7): 619–25.
doi:
10.1038/ng.594.
PMC
2894012.
PMID
20512146.
- Hillier LD, Lennon G, Becker M, et al. (1996).
"Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28.
doi:
10.1101/gr.6.9.807.
PMID
8889549.
- Zhang QH, Ye M, Wu XY, et al. (2000).
"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60.
doi:
10.1101/gr.140200.
PMC
310934.
PMID
11042152.