TMEM216

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TMEM216
Identifiers
AliasesTMEM216, HSPC244, transmembrane protein 216
External IDsMGI: 1920020 HomoloGene: 9541 GeneCards: TMEM216
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for TMEM216
Genomic location for TMEM216
Band11q12.2Start61,391,687 bp[1]
End61,398,863 bp[1]
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: 10.53 – 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[edit]

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

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187049 - Ensembl, May 2017
  2. ^ a b c 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[edit]