TMEM216
Identifiers
AliasesTMEM216, HSPC244, transmembrane protein 216
External IDsOMIM: 613277 MGI: 1920020 HomoloGene: 9541 GeneCards: TMEM216
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: 10.51 – 10.53 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:". 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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