TMEM216

TMEM216
Identifiers
Aliases	TMEM216, HSPC244, transmembrane protein 216
External IDs	OMIM: 613277; MGI: 1920020; HomoloGene: 9541; GeneCards: TMEM216; OMA:TMEM216 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	61,398,866 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	10,533,602 bp
RNA expression pattern
	Top expressed in
	gonad; ; anterior pituitary; ; left ovary; ; ventricular zone; ; right ovary; ; right uterine tube; ; mucosa of ileum; ; testicle; ; oocyte; ; granulocyte;
	Top expressed in
	granulocyte; ; ventricular zone; ; neural tube; ; zygote; ; embryo; ; right kidney; ; otic placode; ; tibiofemoral joint; ; proximal tubule; ; embryo;
	More reference expression data
	n/a
Gene ontology
Molecular function	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 assembly; ciliary basal body-plasma membrane docking; non-motile cilium assembly;
	Sources:Amigo / QuickGO
Orthologs
	51259
	68642
	ENSG00000187049
	ENSMUSG00000024667
	Q9P0N5
	Q9CQC4
	NM_001173990; NM_001173991; NM_016499; NM_001330285
	NM_001277860; NM_001277861; NM_026798
	NP_001167461; NP_001167462; NP_001317214; NP_057583
	NP_001264789; NP_001264790; NP_081074
	Wikidata
View/Edit Human	View/Edit Mouse

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

References

GRCh38: Ensembl release 89: ENSG00000187049 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000024667 – 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.
"Entrez Gene: transmembrane protein 216".
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. 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000187049 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: transmembrane protein 216".

[pmid21029074-6] 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.

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Clinical significance

See also

References

Further reading