TMEM216 (transmembrane protein 216)

2014-11-01  

Identity

HGNC
TMEM216
LOCATION
11q12.2
LOCUSID
51259
ALIAS
HSPC244
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51259
MIM: 613277
HGNC: 25018
Ensembl: ENSG00000187049

Variants:

dbSNP: 51259
ClinVar: 51259
TCGA: ENSG00000187049
COSMIC: TMEM216

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187049ENST00000334888Q9P0N5
ENSG00000187049ENST00000398979J3QT25
ENSG00000187049ENST00000515837Q9P0N5

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

References

Pubmed IDYearTitleCitations
222824722012Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.44
222824722012Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.44
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.72
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.72
200363502010Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.42
205121462010Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.159
200363502010Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.42
205121462010Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.159

Citation

Dessen P

TMEM216 (transmembrane protein 216)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74882/cancer-prone-explorer/js/lib/zoomerang.js