TMEM216

Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.[5]

TMEM216
Identifiers
Aliases	TMEM216, HSPC244, transmembrane protein 216
External IDs	OMIM: 613277 MGI: 1920020 HomoloGene: 9541 GeneCards: TMEM216
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q12.2 Start 61,392,360 bp[1] End 61,398,863 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 A Start 10,533,865 bp[2] End 10,556,238 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • cytoplasm • integral component of membrane • cytosol • cell projection • MKS complex • cilium • ciliary transition zone • cytoskeleton • membrane Biological process • cell projection organization • cilium morphogenesis • ciliary basal body docking • non-motile cilium assembly Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	51259	68642
Ensembl	ENSG00000187049	ENSMUSG00000024667
UniProt	Q9P0N5	Q9CQC4
RefSeq (mRNA)	NM_001173990 NM_001173991 NM_016499 NM_001330285	NM_001277860 NM_001277861 NM_026798
RefSeq (protein)	NP_001167461 NP_001167462 NP_001317214 NP_057583	NP_001264789 NP_001264790 NP_081074
Location (UCSC)	Chr 11: 61.39 – 61.4 Mb	Chr 19: 10.53 – 10.56 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Clinical significance

Mutations in this gene may be associated with Meckel syndrome or Joubert syndrome.[6]

See also

• Ciliopathy

References

1. GRCh38: Ensembl release 89: ENSG00000187049 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024667 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: transmembrane protein 216".
6. Wang A (September 2010). "TMEM216 joins its ciliary cousins in ciliopathies". Clin Genet. 79 (1): 45–7. doi:10.1111/j.1399-0004.2010.01556_2.x. PMID 21029074. S2CID 948228.

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. 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.