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) [1] Band 11q12.2 Start 61,392,393 bp [1] End 61,398,866 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19|19 A Start 10,511,229 bp [2] End 10,533,602 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 10.51 – 10.53 Mb PubMed search [3] [4]
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]

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. 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.