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

TMEM216
Identifiers
AliasesTMEM216, HSPC244, transmembrane protein 216
External IDsOMIM: 613277; MGI: 1920020; HomoloGene: 9541; GeneCards: TMEM216; OMA:TMEM216 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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: 10.51 – 10.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance

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

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187049Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024667Ensembl, 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

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