TMEM216

TMEM216
Identifiers
AliasesTMEM216, HSPC244, transmembrane protein 216
External IDsMGI: 1920020 HomoloGene: 9541 GeneCards: TMEM216
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11q12.2Start61,391,687 bp[1]
End61,398,863 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 19: 10.53 – 10.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000187049 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024667 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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.

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. PMID 16169070.
  • 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.


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