full name
transmembrane protein 216

synonyms
HSPC244, TMEM216, ENSG00000187049

HGNC
HGNC:25018

Entrez Gene
Gene:51259

ENSEMBL
ENSG00000187049

location
chr: 11
start: 61159832
stop: 61166335
strand: +

OMIM
OMIM:613277: TMEM216 (Autosomal recessive inheritance,Heterogeneous)
OMIM:608091: Joubert syndrome 2
OMIM:603194: Meckel syndrome 2

transcripts
NM_001173990.2
NM_001173991.2
NM_016499.5

pathways
Anchoring of the basal body to the plasma membrane [NCBI:1268847] [REACTOME:R-HSA-5620912] [PUBMED:21816947] [PUBMED:23747070] [PUBMED:19575670] [PUBMED:23348840] [PUBMED:13978319] [PUBMED:20819941] [PUBMED:5661997] [PUBMED:23530209] [PUBMED:24469809] [PUBMED:21725307] [PUBMED:21680046] [PUBMED:21427764] [PUBMED:23351793] [PUBMED:11676918] [PUBMED:22653444] [PUBMED:25047614] [PUBMED:21422230]
Assembly of the primary cilium [NCBI:1268846] [REACTOME:R-HSA-5617833] [PUBMED:22118932] [PUBMED:23351793] [PUBMED:25040720] [PUBMED:17955020] [PUBMED:22653444] [PUBMED:20395968] [PUBMED:20399632] [PUBMED:23945166] [PUBMED:19575670] [PUBMED:24296415] [PUBMED:20145001] [PUBMED:21427764] [PUBMED:22389062]
D-myo-inositol (1,4,5)-trisphosphate biosynthesis [NCBI:545326] [BIOCYC:HUMAN_PWY-6351] [PUBMED:6232463] [PUBMED:18341203] [PUBMED:438153] [PUBMED:6146314] [PUBMED:6605482] [PUBMED:164246] [PUBMED:12117804] [PUBMED:12897244] [PUBMED:9367159] [PUBMED:17895620] [PUBMED:11395409]
D-myo-inositol-5-phosphate metabolism [NCBI:545315] [BIOCYC:HUMAN_PWY-6367] [PUBMED:164246] [PUBMED:16365287] [PUBMED:17008356] [PUBMED:9367159] [PUBMED:11676921] [PUBMED:18774718]
Organelle biogenesis and maintenance [NCBI:1268838] [REACTOME:R-HSA-1852241] [PUBMED:8608592] [PUBMED:16103713]
phospholipases [NCBI:142419] [BIOCYC:HUMAN_LIPASYN-PWY]
superpathway of inositol phosphate compounds [NCBI:547492] [BIOCYC:HUMAN_PWY-6371]