TMEM216

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

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
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Clinical significance

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

See also

• Ciliopathy