TMEM216

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)
End	61,398,866 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	10,533,602 bp
RNA expression pattern
	Top expressed in
	anterior pituitary; ; right uterine tube; ; oocyte; ; secondary oocyte; ; canal of the cervix; ; body of pancreas; ; left uterine tube; ; islet of Langerhans; ; pancreatic ductal cell; ; bronchial epithelial cell;
	Top expressed in
	neural tube; ; otic placode; ; proximal tubule; ; white adipose tissue; ; secondary oocyte; ; brown adipose tissue; ; olfactory epithelium; ; mirror; ; saccule; ; adrenal gland;
	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

Last updated March 04, 2023

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]

Related Research Articles

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000187049 - Ensembl, May 2017
1 2 3 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.

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000187049 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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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[3]

[4]

[5]

[6]

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

TMEM216

Contents

Clinical significance

See also

Related Research Articles

References

Further reading