The TMEM216 gene homepage

General information
Gene symbol TMEM216
Gene name transmembrane protein 216
Chromosome 11
Chromosomal band q13.1
Imprinted Unknown
Genomic reference NG_032976.1
Transcript reference NM_001173990.2, NM_016499.5
Associated with diseases ID, JBTS2, MKS2
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 143
Unique public DNA variants reported 23
Individuals with public variants 127
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome. We gratefully acknowledge the efforts of Anne Polvi for acting as a curator for this database until 2018.
Date created May 03, 2013
Date last updated April 16, 2023
Version TMEM216:230416

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 25018
Entrez Gene 51259
PubMed articles TMEM216
OMIM - Gene 613277
OMIM - Diseases JBTS2 (Joubert syndrome, type 2 (JBTS-2))
MKS2 (Meckel syndrome, type 2 (MKS-2))
GeneCards TMEM216
GeneTests TMEM216
Orphanet TMEM216

Active transcripts




NCBI ID     

NCBI Protein ID     

00021461 11 transcript variant 1 NM_016499.5 NP_057583.2 143
00025629 11 transcript variant 2 NM_001173990.2 NP_001167461.1 35

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